Anne-Marie Axø Gerdes

Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium

EMBRACE Collaborators, E. C., Dec 2023, In: Breast Cancer Research. 25, 1, 13 p., 72.

Research output: Contribution to journal › Journal article › Research › peer-review

TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma

Jensen, M. R., Jelsig, A. M., Gerdes, Anne-Marie Axø, Hølmich, Lisbet Rosenkrantz, mzt627, mzt627, Lorentzen, H. F., Hansen, M. H., Bak, M., Johansson, P. A., Hayward, N. K., Hansen, Thomas van Overeem & Wadt, Karin Anna Wallentin, 2023, In: Human Genetics and Genomics Advances. 4, 4, 12 p., 100225.

Research output: Contribution to journal › Journal article › Research › peer-review

Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants

Stoltze, U. K., Hagen, C. M., Hansen, Thomas van Overeem, Byrjalsen, A., Gerdes, Anne-Marie Axø, Yakimov, V., Rasmussen, Simon, Bækvad-Hansen, M., Hougaard, D. M., Schmiegelow, Kjeld, Hjalgrim, Henrik, Wadt, Karin Anna Wallentin & Bybjerg-Grauholm, J., 2023, In: Genome Medicine. 15, 12 p., 17.

Research output: Contribution to journal › Journal article › Research › peer-review

Ethics in pre-ART genetics: a missed X-linked Menkes disease case

Gerdes, Anne-Marie Axø, Møller, L. B. & Horn, N., 2023, In: Journal of Assisted Reproduction and Genetics. 40, 4, p. 811-816 6 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Genetic predisposition & evolutionary traces of pediatric cancer risk: a prospective 5-year population-based genome sequencing study of children with CNS tumors

Stoltze, U. K., Foss-Skiftesvik, J., Hansen, Thomas van Overeem, Byrjalsen, A., Sehested, A., Scheie, David, Mikkelsen, T. S., Rasmussen, Simon, Bak, M., Okkels, H., Callesen, M. T., Skjøth-Rasmussen, J., Gerdes, Anne-Marie Axø, Schmiegelow, Kjeld, Mathiasen, R. & Wadt, Karin Anna Wallentin, 2023, In: Neuro-Oncology. 25, 4, p. 761-773

Research output: Contribution to journal › Journal article › Research › peer-review

Non-BRCA1/BRCA2 high-risk familial breast cancers are not associated with a high prevalence of BRCAness

Andersen, L. V. B., Larsen, M. J., Davies, H., Degasperi, A., Nielsen, H. R., Jensen, L. A., Kroeldrup, L., Gerdes, Anne-Marie Axø, Lænkholm, Anne-Vibeke, Kruse, T. A., Nik-Zainal, S. & Thomassen, M., 2023, In: Breast Cancer Research. 25, 1, 10 p., 69.

Research output: Contribution to journal › Journal article › Research › peer-review

PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants

HEBON Investigators, H. I., 2023, In: npj Breast Cancer. 9, 1, 15 p., 37.

Research output: Contribution to journal › Journal article › Research › peer-review

The effect of a single SMARCA4 exon deletion on RNA splicing: Implications for variant classification

Byrjalsen, A., Stoltze, U., Mehrjouy, M., Frederiksen, J. H., Bak, M., Birkedal, U., Hasle, H., Gerdes, Anne-Marie Axø, Schmiegelow, Kjeld, Wadt, Karin Anna Wallentin & Hansen, Thomas van Overeem, 2023, In: Molecular Genetics and Genomic Medicine. 11, 10, 7 p., e2232.

Research output: Contribution to journal › Journal article › Research › peer-review

Update of penetrance estimates in Birt-Hogg-Dubé syndrome

Bruinsma, F. J., Dowty, J. G., Win, A. K., Goddard, L. C., Agrawal, P., Attina', D., Bissada, N., De Luise, M., Eisen, D. B., Furuya, M., Gasparre, G., Genuardi, M., Gerdes, A. M., Hansen, T. V. O., Houweling, A. C., Johannesma, P. C., Lencastre, A., Lim, D., Lindor, N. M., Luzzi, V. & 20 others, Lynch, M., Maffé, A., Menko, F. H., Michels, G., Pulido, J. S., Ryu, J. H., Sattler, E. C., Steinlein, O. K., Tomassetti, S., Tucker, K., Turchetti, D., Van De Beek, I., Van Riel, L., Van Steensel, M., Zenone, T., Zompatori, M., Walsh, J., Bondavalli, D., Maher, E. R. & Winship, I. M., 2023, In: Journal of Medical Genetics. 60, 4, p. 317-326 10 p.

Research output: Contribution to journal › Review › Research › peer-review

Cancer Prevention with Resistant Starch in Lynch Syndrome Patients in the CAPP2-Randomized Placebo Controlled Trial: Planned 10-Year Follow-up

the CAPP2 Investigators, T. C. I., 2022, In: Cancer Prevention Research. 15, 9, p. 623-634

Research output: Contribution to journal › Journal article › Research › peer-review

Clinical implications of genetic testing in familial intermediate and late-onset colorectal cancer

Djursby, M., Hansen, Thomas van Overeem, Wadt, Karin Anna Wallentin, Madsen, M. B., Berchtold, L. A., Lautrup, C. K., Markholt, S., Jensen, U. B., Krogh, L. N., Lundsgaard, M., Gerdes, Anne-Marie Axø, Nilbert, Mef Christina & Therkildsen, C., 2022, In: Human Genetics. 141, p. 1925–1933

Research output: Contribution to journal › Journal article › Research › peer-review

Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium

The European Hereditary Tumour Group (EHTG) and the International Mismatch Repair Consortium (IMRC), T. E. H. T. G. (. A. T. I. M. R. C. (., 2022, In: Hereditary Cancer in Clinical Practice. 20, 36.

Research output: Contribution to journal › Journal article › Research › peer-review

Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants

ENIGMA Consortium, E. C. & CIMBA Consortium, C. C., 2022, In: Genetics in Medicine. 24, 1, p. 119-129 11 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Whole genome sequencing identifies rare genetic variants in familial pancreatic cancer patients

Tan, M., Brusgaard, K., Gerdes, Anne-Marie Axø, Larsen, M. J., Mortensen, M. B., Detlefsen, S., de Muckadell, O. B. S. & Joergensen, M. T., 2022, In: Annals of Human Genetics. 86, 4, p. 195-206 12 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Birth cohort-specific trends of sun-related behaviors among individuals from an international consortium of melanoma-prone families

Lacson, J. C. A., Zamani, S. A., Froes, L. A. R., Mitra, N., Qian, L., Doyle, S. H., Azizi, E., Balestrini, C., Bishop, D. T., Bruno, W., Carlos-ortega, B., Cuellar, F., Cust, A. E., Elder, D. E., Gerdes, A., Ghiorzo, P., Grazziotin, T. C., Gruis, N. A., Hansson, J., Hočevar, M. & 18 others, Höiom, V., Holland, E. A., Ingvar, C., Landman, G., Larre-borges, A., Mann, G. J., Molgo, M., Moredo, L. F., Olsson, H., Out-luiting, J. J., Perić, B., Pjanova, D., Puig, S., Salas-alanis, J., Schmid, H., Wadt, Karin Anna Wallentin, Newton-bishop, J. A. & Kanetsky, P. A., 1 Dec 2021, In: BMC Public Health. 21, 1, 16 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Cohort profile and heritability assessment of familial pancreatic cancer: a nation-wide study

Tan, M., Brusgaard, K., Gerdes, Anne-Marie Axø, Mortensen, M. B., Detlefsen, S., Schaffalitzky De Muckadell, O. B. & Joergensen, M. T., 3 Aug 2021, In: Scandinavian Journal of Gastroenterology. 56, 8, p. 965-971 7 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Tumour-infiltrating CD4-, CD8- and FOXP3-positive immune cells as predictive markers of mortality in BRCA1- and BRCA2-associated breast cancer

Jørgensen, N., Hviid, Thomas Vauvert F., Nielsen, L. B., Sønderstrup, I. M. H., Eriksen, J. O., Ejlertsen, Bent Laursen, Gerdes, Anne-Marie Axø, Kruse, T. A., Thomassen, M., Jensen, M. & Lænkholm, Anne-Vibeke, Aug 2021, In: British Journal of Cancer. 125, p. 1388–1398

Research output: Contribution to journal › Journal article › Research › peer-review

Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study

Epidemiological Study of Familial Breast Cancer, Gene Etude Prospective Sein Ovaire Sein, Hereditary Breast and Ovarian Cancer Research Group Netherlands, and International BRCA1/2 Carrier Cohort Study, E. S. O. F. B. C. G. E. P. S. O. S. H. B. A. O. C. R. G. N. A. I. B. C. C. S., Jul 2021, In: American Journal of Obstetrics and Gynecology. 225, 1, p. 51.e1-51.e17

Research output: Contribution to journal › Journal article › Research › peer-review

Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study

The International Mismatch Repair Consortium, T. I. M. R. C., Jul 2021, In: The Lancet Oncology. 22, 7, p. 1014-1022 9 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Direct to consumer genetic testing in Denmark—public knowledge, use, and attitudes

Gerdes, Anne-Marie Axø, Nicolaisen, L., Husum, E., Andersen, J. B., Gantzhorn, M. D., Roos, L. & Diness, Birgitte Rode, May 2021, In: European Journal of Human Genetics. 29, 5, p. 851-860 10 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Genetisk screening af adopterede raske individer

Wriedt, T. R., Gerdes, Anne-Marie Axø, Roos, L. K., Hammer-Hansen, S., Christensen, M. B. & Diness, Birgitte Rode, 29 Mar 2021, In: Ugeskrift for Laeger. 183, 13, 7 p., V11200810.

Research output: Contribution to journal › Journal article › Research › peer-review

Genetisk screening af kommende forældre

Smed, V. M., Petersen, Olav Bennike Bjørn, Gerdes, Anne-Marie Axø, Diness, Birgitte Rode & Roos, L. S., 29 Mar 2021, In: Ugeskrift for Laeger. 183, 13, 9 p., V12200933.

Research output: Contribution to journal › Journal article › Research › peer-review

Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel

Byrjalsen, A., Diets, I. J., Bakhuizen, J., Hansen, Thomas van Overeem, Schmiegelow, Kjeld, Gerdes, Anne-Marie Axø, Stoltze, U., Kuiper, R. P., Merks, J. H. M., Wadt, Karin Anna Wallentin & Jongmans, M., 2021, In: Familial Cancer. 20, 4, p. 279-287 9 p.

Research output: Contribution to journal › Journal article › Research › peer-review

The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

GEMO Study Collaborators, G. S. C., EMBRACE Collaborators, E. C., OCGN Investigators, O. I., HEBON Investigators, H. I. & kConFab Investigators, K. I., 2021, In: Genetics in Medicine. 23, 9, p. 1726-1737

Research output: Contribution to journal › Journal article › Research › peer-review

Whole genome sequencing identifies rare germline variants enriched in cancer related genes in firstdegree relatives of familial pancreatic cancer patients

Tan, M., Brusgaard, K., Gerdes, Anne-Marie Axø, Mortensen, M. B., Detlefsen, S., Schaffalitzky de Muckadell, O. B. & Joergensen, M. T., 2021, In: Clinical Genetics. 100, 5, p. 551-562 12 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Breast cancer survival in Nordic BRCA2 mutation carriers-unconventional association with oestrogen receptor status

Olafsdottir, E. J., Borg, A., Jensen, M., Gerdes, Anne-Marie Axø, Johansson, A. L. V., Barkardottir, R. B., Johannsson, O. T., Ejlertsen, Bent Laursen, Sønderstrup, I. M. H., Hovig, E., Lænkholm, Anne-Vibeke, Hansen, T. V. O., Olafsdottir, G. H., Rossing, M., Jonasson, J. G., Sigurdsson, S., Loman, N., Nilsson, M. P., Narod, S. A. & Tryggvadottir, L., Nov 2020, In: British Journal of Cancer. 123, 11, p. 1608-1615 8 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Barnes, D. R., Rookus, M. A., Mcguffog, L., Leslie, G., Mooij, T. M., Dennis, J., Mavaddat, N., Adlard, J., Ahmed, M., Aittomäki, K., Andrieu, N., Andrulis, I. L., Arnold, N., Arun, B. K., Azzollini, J., Balmaña, J., Barkardottir, R. B., Barrowdale, D., Benitez, J., Berthet, P. & 31 others, Białkowska, K., Blanco, A. M., Blok, M. J., Bonanni, B., Boonen, S. E., Borg, Å., Bozsik, A., Bradbury, A. R., Brennan, P., Brewer, C., Brunet, J., Buys, S. S., Caldés, T., Caligo, M. A., Campbell, I., Christensen, L. L., Chung, W. K., Claes, K. B. M., Colas, C., Collonge-rame, M., Cook, J., Daly, M. B., Davidson, R., De La Hoya, M., De Putter, R., Delnatte, C., Devilee, P., Ejlertsen, Bent Laursen, Gerdes, Anne-Marie Axø, Nielsen, Finn Cilius & Consortium of Investigators of Modifiers of BRCA and BRCA2, C. O. I. O. M. O. B. A. B., 1 Oct 2020, In: Genetics in Medicine. 22, 10, p. 1653-1666 14 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

Patel, V. L., Busch, E. L., Friebel, T. M., Cronin, A., Leslie, G., McGuffog, L., Adlard, J., Agata, S., Agnarsson, B. A., Ahmed, M., Aittomäki, K., Alducci, E., Andrulis, I. L., Arason, A., Arnold, N., Artioli, G., Arver, B., Auber, B., Azzollini, J., Balmaña, J. & 243 others, Barkardottir, R. B., Barnes, D. R., Barroso, A., Barrowdale, D., Belotti, M., Benitez, J., Bertelsen, B., Blok, M. J., Bodrogi, I., Bonadona, V., Bonanni, B., Bondavalli, D., Boonen, S. E., Borde, J., Borg, A., Bradbury, A. R., Brady, A., Brewer, C., Brunet, J., Buecher, B., Buys, S. S., Cabezas-Camarero, S., Caldés, T., Caliebe, A., Caligo, M. A., Calvello, M., Campbell, I. G., Carnevali, I., Carrasco, E., Chan, T. L., Chu, A. T. W., Chung, W. K., Claes, K. B. M., Collaborators, G. S., Collaborators, E., Cook, J., Cortesi, L., Couch, F. J., Daly, M. B., Damante, G., Darder, E., Davidson, R., de la Hoya, M., Puppa, L. D., Dennis, J., Díez, O., Ding, Y. C., Ditsch, N., Domchek, S. M., Donaldson, A., Dworniczak, B., Easton, D. F., Eccles, D. M., Eeles, R. A., Ehrencrona, H., Ejlertsen, Bent Laursen, Engel, C., Evans, D. G., Faivre, L., Faust, U., Feliubadaló, L., Foretova, L., Fostira, F., Fountzilas, G., Frost, D., García-Barberán, V., Garre, P., Gauthier-Villars, M., Géczi, L., Gehrig, A., Gerdes, Anne-Marie Axø, Gesta, P., Giannini, G., Glendon, G., Godwin, A. K., Goldgar, D. E., Greene, M. H., Gutierrez-Barrera, A. M., Hahnen, E., Hamann, U., Hauke, J., Herold, N., Hogervorst, F. B. L., Honisch, E., Hopper, J. L., Hulick, P. J., Investigators, K., Investigators, H., Izatt, L., Jager, A., James, P., Janavicius, R., Jensen, U. B., Jensen, T. D., Johannsson, O. T., John, E. M., Joseph, V., Kang, E., Kast, K., Kiiski, J. I., Kim, S., Kim, Z., Ko, K., Konstantopoulou, I., Kramer, G., Krogh, L., Kruse, T. A., Kwong, A., Larsen, M., Lasset, C., Lautrup, C., Lazaro, C., Lee, J., Lee, J. W., Lee, M. H., Lemke, J., Lesueur, F., Liljegren, A., Lindblom, A., Llovet, P., Lopez-Fernández, A., Lopez-Perolio, I., Lorca, V., Loud, J. T., Ma, E. S. K., Mai, P. L., Manoukian, S., Mari, V., Martin, L., Matricardi, L., Mebirouk, N., Medici, V., Meijers-Heijboer, H. E. J., Meindl, A., Mensenkamp, A. R., Miller, C., Gomes, D. M., Montagna, M., Mooij, T. M., Moserle, L., Mouret-Fourme, E., Mulligan, A. M., Nathanson, K. L., Navratilova, M., Nevanlinna, H., Niederacher, D., Nielsen, Finn Cilius, Nikitina-Zake, L., Offit, K., Olah, E., Olopade, O. I., Ong, K., Osorio, A., Ott, C., Palli, D., Park, S. K., Parsons, M. T., Pedersen, I. S., Peissel, B., Peixoto, A., Pérez-Segura, P., Peterlongo, P., Petersen, A. H., Porteous, M. E., Pujana, M. A., Radice, P., Ramser, J., Rantala, J., Rashid, M. U., Rhiem, K., Rizzolo, P., Robson, M. E., Rookus, M. A., Rossing, C. M., Ruddy, K. J., Santos, C., Saule, C., Scarpitta, R., Schmutzler, R. K., Schuster, H., Senter, L., Seynaeve, C. M., Shah, P. D., Sharma, P., Shin, V. Y., Silvestri, V., Simard, J., Singer, C. F., Skytte, A., Snape, K., Solano, A. R., Soucy, P., Southey, M. C., Spurdle, A. B., Steele, L., Steinemann, D., Stoppa-Lyonnet, D., Stradella, A., Sunde, L., Sutter, C., Tan, Y. Y., Teixeira, M. R., Teo, S. H., Thomassen, M., Tibiletti, M. G., Tischkowitz, M., Tognazzo, S., Toland, A. E., Tommasi, S., Torres, D., Toss, A., Trainer, A. H., Tung, N., van Asperen, C. J., van der Baan, F. H., van der Kolk, L. E., van der Luijt, R. B., van Hest, L. P., Varesco, L., Varon-Mateeva, R., Viel, A., Vierstraete, J., Villa, R., von Wachenfeldt, A., Wagner, P., Wang-Gohrke, S., Wappenschmidt, B., Weitzel, J. N., Wieme, G., Yadav, S., Yannoukakos, D., Yoon, S., Zanzottera, C., Zorn, K. K., D'Amico, A. V., Freedman, M. L., Pomerantz, M. M., Chenevix-Trench, G., Antoniou, A. C., Neuhausen, S. L., Ottini, L., Nielsen, H. R. & Rebbeck, T. R., 1 Feb 2020, In: Cancer Research. 80, 3, p. 624-638 15 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Alcohol Consumption, Cigarette Smoking, and Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Results from The BRCA1 and BRCA2 Cohort Consortium

Li, H., Terry, M. B., Antoniou, A. C., Phillips, K-A., Kast, K., Mooij, T. M., Engel, C., Noguès, C., Stoppa-Lyonnet, D., Lasset, C., Berthet, P., Mari, V., Caron, O., Barrowdale, D., Frost, D., Brewer, C., Evans, D. G., Izatt, L., Side, L., Walker, L. & 31 others, Tischkowitz, M., Rogers, M. T., Porteous, M. E., Snape, K., Meijers-Heijboer, H. E. J., Gille, J. J. P., Blok, M. J., Hoogerbrugge, N., Daly, M. B., Andrulis, I. L., Buys, S. S., John, E. M., McLachlan, S., Friedlander, M., Tan, Y. Y., Osorio, A., Caldes, T., Jakubowska, A., Simard, J., Singer, C. F., Olah, E., Navratilova, M., Foretova, L., Gerdes, Anne-Marie Axø, Roos-Blom, M., Arver, B., Olsson, H., Schmutzler, R. K., Hopper, J. L., Milne, R. L. & GENEPSO study, G. S., Feb 2020, In: Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology. 29, 2, p. 368-378 11 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers

Mavaddat, N., Antoniou, A. C., Mooij, T. M., Hooning, M. J., Heemskerk-Gerritsen, B. A., Noguès, C., Gauthier-Villars, M., Caron, O., Gesta, P., Pujol, P., Lortholary, A., Barrowdale, D., Frost, D., Evans, D. G., Izatt, L., Adlard, J., Eeles, R., Brewer, C., Tischkowitz, M., Henderson, A. & 31 others, Cook, J., Eccles, D., van Engelen, K., Mourits, M. J. E., Ausems, M. G. E. M., Koppert, L. B., Hopper, J. L., John, E. M., Chung, W. K., Andrulis, I. L., Daly, M. B., Buys, S. S., Benitez, J., Caldes, T., Jakubowska, A., Simard, J., Singer, C. F., Tan, Y., Olah, E., Navratilova, M., Foretova, L., Gerdes, Anne-Marie Axø, Roos-Blom, M., Van Leeuwen, F. E., Arver, B., Olsson, H., Schmutzler, R. K., Engel, C., Kast, K., Phillips, K. & GENEPSO, G., 16 Jan 2020, In: Breast Cancer Research. 22, 1, 11 p., 8.

Research output: Contribution to journal › Journal article › Research › peer-review

A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families

Djursby, M., Wadt, Karin Anna Wallentin, Frederiksen, J. H., Madsen, M. B., Berchtold, L. A., Hasselby, Jane Preuss, Willemoe, G. L., Hansen, T. V. O. & Gerdes, Anne-Marie Axø, 2020, In: Hereditary Cancer in Clinical Practice. 18, 1, 8.

Research output: Contribution to journal › Journal article › Research › peer-review

Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, placebo-controlled trial

Burn, J., Sheth, H., Elliott, F., Reed, L., Macrae, F., Mecklin, J. P., Möslein, G., McRonald, F. E., Bertario, L., Evans, D. G., Gerdes, A. M., Ho, J. W. C., Lindblom, A., Morrison, P. J., Rashbass, J., Ramesar, R., Seppälä, T., Thomas, H. J. W., Pylvänäinen, K., Borthwick, G. M. & 15 others, Mathers, J. C., Bishop, D. T., Boussioutas, A., Brewer, C., Cook, J., Eccles, D., Ellis, A., Hodgson, S. V., Lubinski, J., Maher, E. R., Porteous, M. E., Sampson, J., Scott, R. J., Side, L. & CAPP2 Investigators, C. I., 2020, In: The Lancet. 395, 10240, p. 1855-1863 9 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Characterization of the Cancer Spectrum in Men with Germline BRCA1 and BRCA2 Pathogenic Variants: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

Silvestri, V., Leslie, G., Barnes, D. R., Agnarsson, B. A., Aittomäki, K., Alducci, E., Andrulis, I. L., Barkardottir, R. B., Barroso, A., Barrowdale, D., Benitez, J., Bonanni, B., Borg, A., Buys, S. S., Caldés, T., Caligo, M. A., Capalbo, C., Campbell, I., Chung, W. K., Claes, K. B. M. & 103 others, Colonna, S. V., Cortesi, L., Couch, F. J., De La Hoya, M., Diez, O., Ding, Y. C., Domchek, S., Easton, D. F., Ejlertsen, Bent Laursen, Engel, C., Evans, D. G., Feliubadalò, L., Foretova, L., Fostira, F., Géczi, L., Gerdes, Anne-Marie Axø, Glendon, G., Godwin, A. K., Goldgar, D. E., Hahnen, E., Hogervorst, F. B. L., Hopper, J. L., Hulick, P. J., Isaacs, C., Izquierdo, A., James, P. A., Janavicius, R., Jensen, U. B., John, E. M., Joseph, V., Konstantopoulou, I., Kurian, A. W., Kwong, A., Landucci, E., Lesueur, F., Loud, J. T., Machackova, E., Mai, P. L., Majidzadeh-A, K., Manoukian, S., Montagna, M., Moserle, L., Mulligan, A. M., Nathanson, K. L., Nevanlinna, H., Ngeow Yuen Ye, J., Nikitina-Zake, L., Offit, K., Olah, E., Olopade, O. I., Osorio, A., Papi, L., Park, S. K., Pedersen, I. S., Perez-Segura, P., Petersen, A. H., Pinto, P., Porfirio, B., Pujana, M. A., Radice, P., Rantala, J., Rashid, M. U., Rosenzweig, B., Rossing, M., Santamariña, M., Schmutzler, R. K., Senter, L., Simard, J., Singer, C. F., Solano, A. R., Southey, M. C., Steele, L., Steinsnyder, Z., Stoppa-Lyonnet, D., Tan, Y. Y., Teixeira, M. R., Teo, S. H., Terry, M. B., Thomassen, M., Toland, A. E., Torres-Esquius, S., Tung, N., Van Asperen, C. J., Vega, A., Viel, A., Vierstraete, J., Wappenschmidt, B., Weitzel, J. N., Wieme, G., Yoon, S. Y., Zorn, K. K., Mcguffog, L., Parsons, M. T., Hamann, U., Greene, M. H., Kirk, J. A., Neuhausen, S. L., Rebbeck, T. R., Tischkowitz, M., Chenevix-Trench, G., Antoniou, A. C., Friedman, E. & Ottini, L., 2020, In: JAMA Oncology. 6, 8, p. 1218-1230

Research output: Contribution to journal › Journal article › Research › peer-review

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high frequency of cancer prone syndromes

Byrjalsen, A., Hansen, T. V. O., Stoltze, U. K., Mehrjouy, M. M., Barnkob, N. M., Hjalgrim, L. L., Mathiasen, R., Lautrup, C. K., Gregersen, P. A., Hasle, H., Wehner, P. S., Tuckuviene, R., Sackett, P. W., Laspiur, A. O., Rossing, M., Marvig, R. L., Tommerup, N., Olsen, T. E., Scheie, D., Gupta, R. & 3 others, Gerdes, Anne-Marie Axø, Schmiegelow, Kjeld & Wadt, Karin Anna Wallentin, 2020, In: PLOS Genetics. 16, 12, e1009231.

Research output: Contribution to journal › Journal article › Research › peer-review

New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients

Djursby, M., Madsen, M. B., Frederiksen, J. H., Berchtold, L. A., Therkildsen, C., Willemoe, G. L., Hasselby, Jane Preuss, Wikman, F., Okkels, H., Skytte, A. B., Nilbert, Mef Christina, Wadt, Karin Anna Wallentin, Gerdes, Anne-Marie Axø & van Overeem Hansen, T., 2020, In: Frontiers in Genetics. 11, 566266.

Research output: Contribution to journal › Journal article › Research › peer-review

Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT

Taylor, N. J., Mitra, N., Qian, L., Avril, M. F., Bishop, D. T., Bressac-de Paillerets, B., Bruno, W., Calista, D., Cuellar, F., Cust, A. E., Demenais, F., Elder, D. E., Gerdes, A. M., Ghiorzo, P., Goldstein, A. M., Grazziotin, T. C., Gruis, N. A., Hansson, J., Harland, M., Hayward, N. K. & 23 others, Hocevar, M., Höiom, V., Holland, E. A., Ingvar, C., Landi, M. T., Landman, G., Larre-Borges, A., Mann, G. J., Nagore, E., Olsson, H., Palmer, J. M., Perić, B., Pjanova, D., Pritchard, A. L., Puig, S., Schmid, H., van der Stoep, N., Tucker, M. A., Wadt, Karin Anna Wallentin, Yang, X. R., Newton-Bishop, J. A., Kanetsky, P. A. & GenoMEL Study Group, G. S. G., Aug 2019, In: Journal of the American Academy of Dermatology. 81, 2, p. 386-394

Research output: Contribution to journal › Journal article › Research › peer-review

Subtypes in BRCA-mutated breast cancer

Sønderstrup, I. M. H., Jensen, M. R., Ejlertsen, Bent Laursen, Eriksen, J. O., Gerdes, Anne-Marie Axø, Kruse, T. A., Larsen, M. J., Thomassen, M. & Lænkholm, Anne-Vibeke, Feb 2019, In: Human Pathology. 84, p. 192-201 10 p.

Research output: Contribution to journal › Journal article › Research › peer-review

A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?

Altaraihi, M., Wadt, Karin Anna Wallentin, Ek, J., Gerdes, Anne-Marie Axø & Østergaard, Elsebet, 2019, In: Human Genome Variation. 6, 1, 10.

Research output: Contribution to journal › Journal article › Research › peer-review

A new family with a homozygous nonsense variant in NTHL1 further delineated the clinical phenotype of NTHL1-associated polyposis

Altaraihi, M., Gerdes, Anne-Marie Axø & Wadt, Karin Anna Wallentin, 2019, In: Human Genome Variation. 6, 3 p., 46.

Research output: Contribution to journal › Journal article › Research › peer-review

Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome

Abildgaard, A. B., Stein, Amelie, Nielsen, S. V., Schultz-Knudsen, Katrine, Papaleo, E., Shrikhande, A., Hoffmann, Eva, Bernstein, I., Gerdes, Anne-Marie Axø, Takahashi, M., Ishioka, C., Lindorff-Larsen, Kresten & Hartmann-Petersen, Rasmus, 2019, In: eLife. 8, 28 p., e49138 .

Research output: Contribution to journal › Journal article › Research › peer-review

Evaluation of tumor-infiltrating lymphocytes and association with prognosis in BRCA-mutated breast cancer

Sønderstrup, I. M. H., Jensen, M. B., Ejlertsen, Bent Laursen, Eriksen, J. O., Gerdes, Anne-Marie Axø, Kruse, T. A., Larsen, M. J., Thomassen, M. & Lænkholm, Anne-Vibeke, 2019, In: Acta Oncologica. 58, 3, p. 363-370 8 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Exploring the hereditary background of renal cancer in Denmark

Christensen, M. B., Wadt, Karin Anna Wallentin, Jensen, U. B., Lautrup, C. K., Bojesen, A., Krogh, L. N., Overeem Hansen, T. V. & Gerdes, Anne-Marie Axø, 2019, In: PLoS ONE. 14, 4, 16 p., e0215725.

Research output: Contribution to journal › Journal article › Research › peer-review

Genetic counselling and testing of susceptibility genes for therapeutic decision-making in breast cancer - an European consensus statement and expert recommendations

Singer, C. F., Balmaña, J., Bürki, N., Delaloge, S., Filieri, M. E., Gerdes, Anne-Marie Axø, Grindedal, E. M., Han, S., Johansson, O., Kaufman, B., Krajc, M., Loman, N., Olah, E., Paluch-Shimon, S., Plavetic, N. D., Pohlodek, K., Rhiem, K., Teixeira, M. & Evans, D. G., 2019, In: European Journal of Cancer. 106, p. 54-60 7 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Genomisk medicin til præimplantations-, 
præ- og postnatal diagnostik

Gerdes, Anne-Marie Axø, Risom, L., Kjærgaard, S. & Østergaard, Elsebet, 2019, In: Ugeskrift for Laeger. 181, 7A, 5 p., V11180756.

Research output: Contribution to journal › Journal article › Research › peer-review

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Parsons, M. T., Tudini, E., Li, H., Hahnen, E., Wappenschmidt, B., Feliubadaló, L., Aalfs, C. M., Agata, S., Aittomäki, K., Alducci, E., Alonso-Cerezo, M. C., Arnold, N., Auber, B., Austin, R., Azzollini, J., Balmaña, J., Barbieri, E., Bartram, C. R., Blanco, A., Blümcke, B. & 31 others, Bonache, S., Bonanni, B., Borg, Å., Bortesi, B., Brunet, J., Bruzzone, C., Bucksch, K., Cagnoli, G., Caldés, T., Caliebe, A., Caligo, M. A., Calvello, M., Capone, G. L., Caputo, S. M., Carnevali, I., Carrasco, E., Caux-Moncoutier, V., Cavalli, P., Cini, G., Clarke, E. M., Concolino, P., Cops, E. J., Cortesi, L., Couch, F. J., Darder, E., de la Hoya, M., Dean, M., Gerdes, Anne-Marie Axø, Hansen, T. V. O., Wagner, S. A. & kConFab Investigators, K. I., 2019, In: Human Mutation. 40, 9, p. 1557-1578 22 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Toward mechanistic models for genotype-phenotype correlations in phenylketonuria using protein stability calculations

Scheller, R., Stein, Amelie, Nielsen, S. V., Marin, F. I., Gerdes, Anne-Marie Axø, Di Marco, M., Papaleo, E., Lindorff-Larsen, Kresten & Hartmann-Petersen, Rasmus, 2019, In: Human Mutation. 40, 4, p. 444-457

Research output: Contribution to journal › Journal article › Research › peer-review

Clinical and molecular characterization of BRCA-associated breast cancer: results from the DBCG

Soenderstrup, I. M. H., Lænkholm, Anne-Vibeke, Jensen, M. B., Eriksen, J. O., Gerdes, Anne-Marie Axø, Hansen, T. V. O., Kruse, T. A., Larsen, M. J., Pedersen, I. S., Rossing, M., Thomassen, M. & Ejlertsen, B., 2018, In: Acta Oncologica. 57, 1, p. 95-101

Research output: Contribution to journal › Journal article › Research › peer-review

Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark

Stoltze, U., Skytte, A., Roed, H., Hasle, H., Ejlertsen, B., Overeem Hansen, T. V., Schmiegelow, Kjeld, Gerdes, Anne-Marie Axø & Wadt, K., 2018, In: PLoS ONE. 13, 1, 11 p., e0190050.

Research output: Contribution to journal › Journal article › Research › peer-review

En familie med nedarvet DICER1-mutation

Altaraihi, M., Pedersen, J., Rossing, M., Gerdes, Anne-Marie Axø & Wadt, K., 2018, In: Ugeskrift for Laeger. 180, 25, 2 p., V01180063.

Research output: Contribution to journal › Letter › Research › peer-review

Is DBCG abreast of new developments?

Offersen, B. V., Ejlertsen, B., Balslev, E., Flyger, H., Gerdes, Anne-Marie Axø, Hansen, M. K., Hølmich, Lisbet Rosenkrantz, Jensen, M., Kristensen, B., Lænkholm, Anne-Vibeke, Mouridsen, H. T., Nielsen, M. H., Overgaard, J., Tuxen, M., Vejborg, I. & Christiansen, P., 2018, In: Acta Oncologica. 57, 1, p. 1-2 2 p.

Research output: Contribution to journal › Editorial › Research

Kræftdisponerende mutationer er hyppige hos børn og unge med kræft

Stoltze, U. K., Byrjalsen, A., Hjalgrim, L. L., Wahlberg, A., Gupta, R., Gerdes, Anne-Marie Axø, Wadt, K. & Schmiegelow, Kjeld, 2018, In: Ugeskrift for Laeger. 180, 17, 6 p., V07170566.

Research output: Contribution to journal › Journal article › Research › peer-review

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

EMBRACE, E., 2018, In: Human Mutation. 39, 5, p. 593-620 28 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Pediatric cancer families' participation in whole-genome sequencing research in Denmark: Parent perspectives

Byrjalsen, A., Stoltze, U., Wadt, K., Hjalgrim, L. L., Gerdes, Anne-Marie Axø, Schmiegelow, Kjeld & Wahlberg, Ayo, 2018, In: European Journal of Cancer Care. 27, 6, p. 1-11 11 p., e12877.

Research output: Contribution to journal › Journal article › Research › peer-review

The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

Moghadasi, S., Meeks, H. D., Vreeswijk, M. P., Janssen, L. A., Borg, Å., Ehrencrona, H., Paulsson-Karlsson, Y., Wappenschmidt, B., Engel, C., Gehrig, A., Arnold, N., Hansen, T. V. O., Thomassen, M., Jensen, U. B., Kruse, T. A., Ejlertsen, B., Gerdes, A-M., Pedersen, I. S., Caputo, S. M., Couch, F. & 20 others, Hallberg, E. J., van den Ouweland, A. M., Collée, M. J., Teugels, E., Adank, M. A., van der Luijt, R. B., Mensenkamp, A. R., Oosterwijk, J. C., Blok, M. J., Janin, N., Claes, K. B., Tucker, K., Viassolo, V., Toland, A. E., Eccles, D. E., Devilee, P., Van Asperen, C. J., Spurdle, A. B., Goldgar, D. E. & García, E. G., 2018, In: Journal of Medical Genetics. 55, 1, p. 15-20

Research output: Contribution to journal › Journal article › Research › peer-review

Blocking protein quality control to counter hereditary cancers

Kampmeyer, Caroline, Nielsen, S. V., Bjørnkjær, Lene, Stein, Amelie, Gerdes, Anne-Marie Axø, Lindorff-Larsen, Kresten & Hartmann-Petersen, Rasmus, Dec 2017, In: Genes, Chromosomes & Cancer. 56, 12, p. 823-831 9 p.

Research output: Contribution to journal › Review › Research › peer-review

Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families

Taylor, N. J., Mitra, N., Goldstein, A. M., Tucker, M. A., Avril, M-F., Azizi, E., Bergman, W., Bishop, D. T., Bressac-de Paillerets, B., Bruno, W., Calista, D., Cannon-Albright, L. A., Cuellar, F., Cust, A. E., Demenais, F., Elder, D. E., Gerdes, A-M., Ghiorzo, P., Grazziotin, T. C., Hansson, J. & 25 others, Harland, M., Hayward, N. K., Hocevar, M., Höiom, V., Ingvar, C., Landi, M. T., Landman, G., Larre-Borges, A., Leachman, S. A., Mann, G. J., Nagore, E., Olsson, H., Palmer, J. M., Perić, B., Pjanova, D., Pritchard, A., Puig, S., van der Stoep, N., Wadt, K. A. W., Whitaker, L., Yang, X. R., Newton Bishop, J. A., Gruis, N. A., Kanetsky, P. A. & GenoMEL Study Group, G. S. G., Dec 2017, In: The Journal of Investigative Dermatology. 137, 12, p. 2606-2612 7 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers

Kuchenbaecker, K. B., Hopper, J. L., Barnes, D. R., Phillips, K-A., Mooij, T. M., Roos-Blom, M-J., Jervis, S., van Leeuwen, F. E., Milne, R. L., Andrieu, N., Goldgar, D. E., Terry, M. B., Rookus, M. A., Easton, D. F., Antoniou, A. C., McGuffog, L., Evans, D. G., Barrowdale, D., Frost, D., Adlard, J. & 31 others, Ong, K., Izatt, L., Tischkowitz, M., Eeles, R., Davidson, R., Hodgson, S., Ellis, S., Nogues, C., Lasset, C., Stoppa-Lyonnet, D., Fricker, J., Faivre, L., Berthet, P., Hooning, M. J., van der Kolk, L. E., Kets, C. M., Adank, M. A., John, E. M., Chung, W. K., Andrulis, I. L., Southey, M., Daly, M. B., Buys, S. S., Osorio, A., Engel, C., Kast, K., Schmutzler, R. K., Caldes, T., Jakubowska, A., Gerdes, Anne-Marie Axø & BRCA1 and BRCA2 Cohort Consortium, B. A. B. C. C., 20 Jun 2017, In: J A M A: The Journal of the American Medical Association. 317, 23, p. 2402-2416 15 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Classification of the spliceogenic BRAC1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier

Byrjalsen, A., Steffensen, A. Y., Hansen, T. V. O., Wadt, K. & Gerdes, Anne-Marie Axø, Jun 2017, In: Clinical Case Reports. 5, 6, p. 876-879 4 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Phelan, C. M., Kuchenbaecker, K. B., Tyrer, J. P., Kar, S. P., Lawrenson, K., Winham, S. J., Dennis, J., Pirie, A., Riggan, M. J., Chornokur, G., Earp, M. A., Lyra, P. C., Lee, J. M., Coetzee, S., Beesley, J., McGuffog, L., Soucy, P., Dicks, E., Lee, A., Barrowdale, D. & 31 others, Lecarpentier, J., Leslie, G., Aalfs, C. M., Aben, K. K. H., Adams, M., Adlard, J., Andrulis, I. L., Anton-Culver, H., Antonenkova, N., Aravantinos, G., Arnold, N., Arun, B. K., Arver, B., Azzollini, J., Balmaña, J., Banerjee, S. N., Barjhoux, L., Barkardottir, R. B., Bean, Y., Beckmann, M. W., Beeghly-Fadiel, A., Benitez, J., Bermisheva, M., Bernardini, M. Q., Birrer, M. J., Bjorge, L., Gerdes, Anne-Marie Axø, Høgdall, Claus Kim, Høgdall, Estrid Vilma Solyom, Kjær, Susanne Krüger & AOCS Study Group, A. S. G., May 2017, In: Nature Genetics. 49, 5, p. 680-691

Research output: Contribution to journal › Journal article › Research › peer-review

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3

Hamdi, Y., Soucy, P., Kuchenbaeker, K. B., Pastinen, T., Droit, A., Lemaçon, A., Adlard, J., Aittomäki, K., Andrulis, I. L., Arason, A., Arnold, N., Azzollini, J., Arun, B. K., Bane, A., Barjhoux, L., Barrowdale, D., Benitez, J., Berthet, P., Blok, M. J., Bobolis, K. A. & 34 others, Bonadona, V., Bonanni, B., Bradbury, A. R., Brewer, C., Buecher, B., Buys, S., Caligo, M. A., Chiquette, J., Chung, W. K., Claes, K. B. M., Daly, M. B., Damiola, F., Davidson, R., de la Hoya, M., De Leeneer, K., Diez, O., Ding, Y. C., Dolcetti, R., Domchek, S. M., Dorfling, C. M., Eccles, D., Eeles, R., Einbeigi, Z., Ejlertsen, B., EMBRACE, E., Engel, C., Gareth Evans, D., Feliubadaló, L., Foretova, L., Fostira, F., Gerdes, Anne-Marie Axø, Easton, D. F., Antoniou, A. C. & Simard, J., Jan 2017, In: Breast Cancer Research and Treatment. 161, 1, p. 117-134 18 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Fordele og ulemper ved forbrugergenetik

Christiansen, C. W. & Gerdes, Anne-Marie Axø, 2017, In: Ugeskrift for Laeger. 179, 11, 4 p., V12160896.

Research output: Contribution to journal › Journal article › Research › peer-review

Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation

Rossing, M., Albrechtsen, Anders, Skytte, A., Jensen, U. B., Ousager, L. B., Gerdes, Anne-Marie Axø, Nielsen, Finn Cilius & Hansen, T. V. O., 2017, In: Journal of Human Genetics. 62, p. 151-157 7 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Milne, R. L., Kuchenbaecker, K. B., Michailidou, K., Beesley, J., Kar, S., Lindström, S., Hui, S., Lemaçon, A., Soucy, P., Dennis, J., Jiang, X., Rostamianfar, A., Finucane, H., Bolla, M. K., McGuffog, L., Wang, Q., Aalfs, C. M., ABCTB Investigators, Adams, M., Adlard, J. & 27 others, Agata, S., Ahmed, S., Ahsan, H., Aittomäki, K., Al-Ejeh, F., Allen, J., Ambrosone, C. B., Amos, C. I., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Arndt, V., Arnold, N., Aronson, K. J., Auber, B., Auer, P. L., Ausems, M. G. E. M., Azzollini, J., Bacot, F., Balmaña, J., Bojesen, Stig Egil, Gerdes, Anne-Marie Axø, Lænkholm, Anne-Vibeke, Nordestgaard, Børge, Schmidt, M. K., Antoniou, A. C. & Simard, J., 2017, In: Nature Genetics. 49, 12, p. 1767-1778

Research output: Contribution to journal › Journal article › Research › peer-review

Current perspectives on recommendations for BRCA genetic testing in ovarian cancer patients

Vergote, I., Banerjee, S., Gerdes, Anne-Marie Axø, van Asperen, C. J., Marth, C., Vaz, F., Ray-Coquard, I., Stoppa-Lyonnet, D., Gonzalez-Martin, A., Sehouli, J. & Colombo, N., Dec 2016, In: European journal of cancer (Oxford, England : 1990). 69, p. 127-134 8 p.

Research output: Contribution to journal › Journal article › Research › peer-review

JP-HHT phenotype in Danish patients with SMAD4 mutations

Jelsig, A. M., Tørring, P. M., Kjeldsen, A. D., Qvist, N., Bojesen, A., Jensen, U. B., Andersen, M. K., Gerdes, Anne-Marie Axø, Brusgaard, K. & Ousager, L. B., Jul 2016, In: Clinical Genetics. 90, 1, p. 55-62 8 p.

Research output: Contribution to journal › Journal article › Research › peer-review

An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers

Madorsky-Feldman, D., Sklair-Levy, M., Perri, T., Laitman, Y., Paluch-Shimon, S., Schmutzler, R., Rhiem, K., Lester, J., Karlan, B. Y., Singer, C. F., Van Maerken, T., Claes, K., Brunet, J., Izquierdo, A., Teulé, A., Lee, J. W., Kim, S-W., Arun, B., Jakubowska, A., Lubinski, J. & 18 others, Tucker, K., Poplawski, N. K., Varesco, L., Bonelli, L. A., Buys, S. S., Mitchell, G., Tischkowitz, M., Gerdes, Anne-Marie Axø, Seynaeve, C., Robson, M., Kwong, A., Tung, N., Tessa, N., Domchek, S. M., Godwin, A. K., Rantala, J., Arver, B. & Friedman, E., Jun 2016, In: Breast Cancer Research and Treatment. 157, 2, p. 319-327 9 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Disease pattern in Danish patients with Peutz-Jeghers syndrome

Jelsig, A. M., Qvist, N., Sunde, L., Brusgaard, K., Hansen, T. V. O., Wikman, F. P., Nielsen, C. B., Nielsen, I. K., Gerdes, Anne-Marie Axø, Bojesen, A. & Ousager, L. B., May 2016, In: International Journal of Colorectal Disease. 31, 5, p. 997-1004 8 p.

Research output: Contribution to journal › Journal article › Research › peer-review

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer

Hollestelle, A., van der Baan, F. H., Berchuck, A., Johnatty, S. E., Aben, K. K., Agnarsson, B. A., Aittomäki, K., Alducci, E., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Antoniou, A. C., Apicella, C., Arndt, V., Arnold, N., Arun, B. K., Arver, B., Ashworth, A., Baglietto, L., Balleine, R. & 31 others, Bandera, E. V., Barrowdale, D., Bean, Y. T., Beckmann, L., Beckmann, M. W., Benitez, J., Berger, A., Berger, R., Beuselinck, B., Bisogna, M., Bjorge, L., Blomqvist, C., Bogdanova, N. V., Bojesen, A., Bojesen, Stig Egil, Bolla, M. K., Bonanni, B., Brand, J. S., Brauch, H., Brenner, H., Brinton, L., Brooks-Wilson, A., Bruinsma, F., Brunet, J., Gerdes, Anne-Marie Axø, Høgdall, Claus Kim, Høgdall, Estrid Vilma Solyom, Kjær, Susanne Krüger, Nielsen, Finn Cilius, Nordestgaard, Børge & Ovarian Cancer Association Consortium, Breast Cancer Association Consortium, and Consortium of Modifiers of BRCA1 and BRCA2, O. C. A. C. B. C. A. C. A. C. O. M. O. B. A. B., May 2016, In: Gynecologic Oncology. 141, 2, p. 386–401

Research output: Contribution to journal › Review › Research › peer-review

Phenotypic and Histopathological Tumor Characteristics According to CDKN2A Mutation Status among Affected Members of Melanoma Families

Taylor, N. J., Handorf, E. A., Mitra, N., Avril, M-F., Azizi, E., Bergman, W., Bianchi-Scarrà, G., Bishop, D. T., Bressac-de Paillerets, B., Calista, D., Cannon-Albright, L. A., Cuellar, F., Cust, A. E., Demenais, F., Elder, D. E., Friedman, E., Gerdes, A-M., Ghiorzo, P., Goldstein, A. M., Grazziotin, T. C. & 27 others, Hansson, J., Hayward, N. K., Hocevar, M., Höiom, V., Holland, E. A., Ingvar, C., Landi, M. T., Landman, G., Larre-Borges, A., Leachman, S. A., Mann, G. J., Nagore, E., Olsson, H., Palmer, J., Perić, B., Pjanova, D., Puig, S., Schmid, H., van der Stoep, N., Tucker, M. A., Wadt, K. A. W., Whitaker, L., Yang, X. R., Newton Bishop, J. A., Gruis, N. A., Kanetsky, P. A. & GenoMEL Consortium, G. C., May 2016, In: Journal of Investigative Dermatology. 136, 5, p. 1066-1069 4 p.

Research output: Contribution to journal › Comment/debate › Research

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

Silvestri, V., Barrowdale, D., Mulligan, A. M., Neuhausen, S. L., Fox, S., Karlan, B. Y., Mitchell, G., James, P., Thull, D. L., Zorn, K. K., Carter, N. J., Nathanson, K. L., Domchek, S. M., Rebbeck, T. R., Ramus, S. J., Nussbaum, R. L., Olopade, O. I., Rantala, J., Yoon, S-Y., Caligo, M. A. & 31 others, Spugnesi, L., Bojesen, A., Pedersen, I. S., Thomassen, M., Jensen, U. B., Toland, A. E., Senter, L., Andrulis, I. L., Glendon, G., Hulick, P. J., Imyanitov, E. N., Greene, M. H., Mai, P. L., Singer, C. F., Rappaport-Fuerhauser, C., Kramer, G., Vijai, J., Offit, K., Robson, M., Lincoln, A., Jacobs, L., Machackova, E., Foretova, L., Navratilova, M., Vasickova, P., Couch, F. J., Hallberg, E., Ruddy, K. J., Sharma, P., Gerdes, Anne-Marie Axø & kConFab Investigators, K. I., 9 Feb 2016, In: Breast Cancer Research (Online). 18, 13 p., 15.

Research output: Contribution to journal › Journal article › Research › peer-review

Germline TERT promoter mutations are rare in familial melanoma

Harland, M., Petljak, M., Robles-Espinoza, C. D., Ding, Z., Gruis, N. A., van Doorn, R., Pooley, K. A., Dunning, A. M., Aoude, L. G., Wadt, K. A. W., Gerdes, Anne-Marie Axø, Brown, K. M., Hayward, N. K., Newton-Bishop, J. A., Adams, D. J. & Bishop, D. T., Jan 2016, In: Familial Cancer. 15, 1, p. 139-44 6 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Identification of six pathogenic RAD51C mutations via mutational screening of 1228 Danish individuals with increased risk of hereditary breast and/or ovarian cancer

Jønson, L., Ahlborn, L. B., Steffensen, A. Y., Djursby, M., Ejlertsen, B., Timshel, S., Nielsen, Finn Cilius, Gerdes, Anne-Marie Axø & Hansen, T. V. O., Jan 2016, In: Breast Cancer Research and Treatment. 155, 2, p. 215-22 8 p.

Research output: Contribution to journal › Journal article › Research › peer-review

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

Meeks, H. D., Song, H., Michailidou, K., Bolla, M. K., Dennis, J., Wang, Q., Barrowdale, D., Frost, D., McGuffog, L., Ellis, S., Feng, B., Buys, S. S., Hopper, J. L., Southey, M. C., Tesoriero, A., James, P. A., Bruinsma, F., Campbell, I. G., Broeks, A., Schmidt, M. K. & 31 others, Hogervorst, F. B. L., Beckman, M. W., Fasching, P. A., Fletcher, O., Johnson, N., Sawyer, E. J., Riboli, E., Banerjee, S., Menon, U., Tomlinson, I., Burwinkel, B., Hamann, U., Marme, F., Rudolph, A., Janavicius, R., Tihomirova, L., Tung, N., Garber, J., Cramer, D., Terry, K. L., Poole, E. M., Tworoger, S. S., Dorfling, C. M., van Rensburg, E. J., Godwin, A. K., Bojesen, Stig Egil, Gerdes, Anne-Marie Axø, Kjær, Susanne Krüger, Høgdall, Claus Kim, Høgdall, Estrid Vilma Solyom & EMBRACE, E., 2016, In: JNCI - Journal of the National Cancer Institute. 108, 2, 10 p., djv315.

Research output: Contribution to journal › Journal article › Research › peer-review

Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4

Johansson, P., Aoude, L. G., Wadt, K., Glasson, W. J., Warrier, S. K., Hewitt, A. W., Kiilgaard, Jens Folke, Heegaard, Steffen, Isaacs, T., Franchina, M., Ingvar, C., Vermeulen, T., Whitehead, K. J., Schmidt, C. W., Palmer, J. M., Symmons, J., Gerdes, Anne-Marie Axø, Jönsson, G. & Hayward, N. K., 2016, In: OncoTarget. 7, 4, p. 4624-31 8 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Vigorito, E., Kuchenbaecker, K. B., Beesley, J., Adlard, J., Agnarsson, B. A., Andrulis, I. L., Arun, B. K., Barjhoux, L., Belotti, M., Benitez, J., Berger, A., Bojesen, A., Bonanni, B., Brewer, C., Caldes, T., Caligo, M. A., Campbell, I., Chan, S. B., Claes, K. B. M., Cohn, D. E. & 126 others, Cook, J., Daly, M. B., Damiola, F., Davidson, R., Pauw, A. D., Delnatte, C., Diez, O., Domchek, S. M., Dumont, M., Durda, K., Dworniczak, B., Easton, D. F., Eccles, D., Edwinsdotter Ardnor, C., Eeles, R., Ejlertsen, B., Ellis, S. D., Evans, D. G., Feliubadaló, L., Fostira, F., Foulkes, W. D., Friedman, E., Frost, D., Gaddam, P., Ganz, P. A., Garber, J., Garcia-Barberan, V., Gauthier-Villars, M., Gehrig, A., Gerdes, Anne-Marie Axø, Giraud, S., Godwin, A. K., Goldgar, D. E., Hake, C. R., Hansen, T. V. O., Healey, S., Hodgson, S., Hogervorst, F. B. L., Houdayer, C., Hulick, P. J., Imyanitov, E. N., Isaacs, C., Izatt, L., Izquierdo, A., Jacobs, L., Jakubowska, A., Janavicius, R., Jaworska-Bieniek, K., Jensen, U. B., John, E. M., Vijai, J., Karlan, B. Y., Kast, K., Investigators, K., Khan, S., Kwong, A., Laitman, Y., Lester, J., Lesueur, F., Liljegren, A., Lubinski, J., Mai, P. L., Manoukian, S., Mazoyer, S., Meindl, A., Mensenkamp, A. R., Montagna, M., Nathanson, K. L., Neuhausen, S. L., Nevanlinna, H., Niederacher, D., Olah, E., Olopade, O. I., Ong, K., Osorio, A., Park, S. K., Paulsson-Karlsson, Y., Pedersen, I. S., Peissel, B., Peterlongo, P., Pfeiler, G., Phelan, C. M., Piedmonte, M., Poppe, B., Pujana, M. A., Radice, P., Rennert, G., Rodriguez, G. C., Rookus, M. A., Ross, E. A., Schmutzler, R. K., Simard, J., Singer, C. F., Slavin, T. P., Soucy, P., Southey, M., Steinemann, D., Stoppa-Lyonnet, D., Sukiennicki, G., Sutter, C., Szabo, C. I., Tea, M., Teixeira, M. R., Teo, S., Terry, M., Thomassen, M., Tibiletti, M. G., Tihomirova, L., Tognazzo, S., van Rensburg, E. J., Varesco, L., Varon-Mateeva, R., Vratimos, A., Weitzel, J. N., McGuffog, L., Kirk, J., Toland, A. E., Hamann, U., Lindor, N., Ramus, S. J., Greene, M. H., Couch, F. J., Offit, K., Pharoah, P. P. D., Chenevix-Trench, G. & Antoniou, A. C., 2016, In: PLoS ONE. 11, 7, 19 p., e0158801.

Research output: Contribution to journal › Journal article › Research › peer-review

Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients

Bennedbæk, M., Rossing, M., Rasmussen, Å. K., Gerdes, Anne-Marie Axø, Skytte, A., Jensen, U. B., Nielsen, Finn Cilius & Hansen, T. V. O., 2016, In: Hereditary Cancer in Clinical Practice. 14, p. 1-7 7 p., 13.

Research output: Contribution to journal › Journal article › Research › peer-review

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Couch, F. J., Kuchenbaecker, K. B., Michailidou, K., Mendoza-Fandino, G. A., Nord, S., Lilyquist, J., Olswold, C., Hallberg, E., Agata, S., Ahsan, H., Aittomäki, K., Ambrosone, C. B., Andrulis, I. L., Anton-Culver, H., Arndt, V., Arun, B. K., Arver, B., Barile, M., Barkardottir, R. B., Barrowdale, D. & 229 others, Beckmann, L., Beckmann, M. W., Benitez, J., Blank, S. V., Blomqvist, C., Bogdanova, N. V., Bojesen, Stig Egil, Bolla, M. K., Bonanni, B., Brauch, H., Brenner, H., Burwinkel, B., Buys, S., Caldes, T., Caligo, M. A., Canzian, F., Carpenter, J., Chang-Claude, J., Chanock, S. J., Chung, W. K., Claes, K. B. M., Cox, A., Cross, S. S., Cunningham, J. M., Czene, K., Daly, M. B., Damiola, F., Darabi, H., de la Hoya, M., Devilee, P., Diez, O., Ding, Y. C., Dolcetti, R., Domchek, S. M., Dorfling, C. M., dos Santos Silva, I., Dumont, M., Dunning, A. M., Eccles, D. M., Ehrencrona, H., Ekici, A. B., Eliassen, H., Ellis, S. D., Fasching, P. A., Figueroa, J., Flesch-Janys, D., Försti, A., Fostira, F., Foulkes, W. D., Friebel, T. M., Friedman, E., Frost, D., Gabrielson, M., Gammon, M. D., Ganz, P. A., Gapstur, S. M., Garber, J., Gaudet, M., Gayther, S. A., Gerdes, Anne-Marie Axø, Ghoussaini, M., Giles, G., Glendon, G., Godwin, A. K., Goldberg, M. S., Goldgar, D. E., González-Neira, A., Greene, M. H., Gronwald, J., Guénel, P., Gunter, M. J., Haeberle, L., Haiman, C. A., Hamann, U., Hansen, T. V. O., Hart, S. N., Healey, S., Heikkinen, T., Henderson, B. E., Herzog, J., Hogervorst, F. B. L., Hollestelle, A., Hooning, M. J., Hoover, R. N., Hopper, J. L., Humphreys, K., Hunter, D. J., Huzarski, T., Imyanitov, E. N., Isaacs, C., Jakubowska, A., James, P., Janavicius, R., Jensen, U. B., John, E. M., Jones, M., Kabisch, M., Kar, S., Karlan, B. Y., Khan, S., Khaw, K., Kibriya, M. G., Knight, J. A., Ko, Y., Konstantopoulou, I., Kosma, V., Kristensen, V., Kwong, A., Laitman, Y., Lambrechts, D., Lazaro, C., Lee, E., Le Marchand, L., Lester, J., Lindblom, A., Lindor, N., Lindstrom, S., Liu, J., Long, J., Lubinski, J., Mai, P. L., Makalic, E., Malone, K. E., Mannermaa, A., Manoukian, S., Margolin, S., Marme, F., Martens, J. W. M., McGuffog, L., Meindl, A., Miller, A., Milne, R. L., Miron, P., Montagna, M., Mazoyer, S., Mulligan, A. M., Muranen, T. A., Nathanson, K. L., Neuhausen, S. L., Nevanlinna, H., Nordestgaard, Børge, Nussbaum, R. L., Offit, K., Olah, E., Olopade, O. I., Olson, J. E., Osorio, A., Park, S. K., Peeters, P. H., Peissel, B., Peterlongo, P., Peto, J., Phelan, C. M., Pilarski, R., Poppe, B., Pylkäs, K., Radice, P., Rahman, N., Rantala, J., Rappaport, C., Rennert, G., Richardson, A. L., Robson, M., Romieu, I., Rudolph, A., Rutgers, E. J., Sánchez, M., Santella, R. M., Sawyer, E. J., Schmidt, D. F., Schmidt, M. K., Schmutzler, R. K., Schumacher, F., Scott, R. J., Senter, L., Sharma, P., Simard, J., Singer, C. F., Sinilnikova, O. M., Soucy, P., Southey, M., Steinemann, D., Stenmark-Askmalm, M., Stoppa-Lyonnet, D., Swerdlow, A., Szabo, C. I., Tamimi, R., Tapper, W., Teixeira, M. R., Teo, S., Terry, M. B., Thomassen, M., Thompson, D., Tihomirova, L., Toland, A. E., Tollenaar, R. A. E. M., Tomlinson, I., Truong, T., Tsimiklis, H., Teulé, A., Tumino, R., Tung, N., Turnbull, C., Ursin, G., van Deurzen, C. H. M., van Rensburg, E. J., Varon-Mateeva, R., Wang, Z., Wang-Gohrke, S., Weiderpass, E., Weitzel, J. N., Whittemore, A. S., Wildiers, H., Winqvist, R., Yang, X. R., Yannoukakos, D., Yao, S., Zamora, M. P., Zheng, W., Hall, P., Kraft, P., Vachon, C., Slager, S., Chenevix-Trench, G., Pharoah, P. P. D., Monteiro, A. N. A., García-Closas, M., Easton, D. F. & Antoniou, A. C., 2016, In: Nature Communications. 7, p. 1-13 13 p., 11375.

Research output: Contribution to journal › Journal article › Research › peer-review

Is screening for pancreatic cancer in high-risk groups cost-effective? Experience from a Danish national screening program

Jøergensen, M. T., Gerdes, Anne-Marie Axø, Sørensen, J., Schaffalitzky de Muckadell, O. & Mortensen, M. B., 2016, In: Pancreatology. 16, 4, p. 584-92 9 p.

Research output: Contribution to journal › Journal article › Research › peer-review

High accuracy of family history of melanoma in Danish melanoma cases

Wadt, K. A. W., Drzewiecki, K. T. & Gerdes, Anne-Marie Axø, Dec 2015, In: Familial Cancer. 14, 4, p. 609-13 5 p.

Research output: Contribution to journal › Journal article › Research › peer-review

POLE mutations in families predisposed to cutaneous melanoma

Aoude, L. G., Heitzer, E., Johansson, P., Gartside, M., Wadt, K., Pritchard, A. L., Palmer, J. M., Symmons, J., Gerdes, Anne-Marie Axø, Montgomery, G. W., Martin, N. G., Tomlinson, I., Kearsey, S. & Hayward, N. K., Dec 2015, In: Familial Cancer. 14, 4, p. 621-8 8 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents

Bodo, S., Colas, C., Buhard, O., Collura, A., Tinat, J., Lavoine, N., Guilloux, A., Chalastanis, A., Lafitte, P., Coulet, F., Buisine, M-P., Ilencikova, D., Ruiz-Ponte, C., Kinzel, M., Grandjouan, S., Brems, H., Lejeune, S., Blanché, H., Wang, Q., Caron, O. & 31 others, Cabaret, O., Svrcek, M., Vidaud, D., Parfait, B., Verloes, A., Knappe, U. J., Soubrier, F., Mortemousque, I., Leis, A., Auclair-Perrossier, J., Frébourg, T., Fléjou, J., Entz-Werle, N., Leclerc, J., Malka, D., Cohen-Haguenauer, O., Goldberg, Y., Gerdes, Anne-Marie Axø, Fedhila, F., Mathieu-Dramard, M., Hamelin, R., Wafaa, B., Gauthier-Villars, M., Bourdeaut, F., Sheridan, E., Vasen, H., Brugières, L., Wimmer, K., Muleris, M., Duval, A. & European Consortium “Care for CMMRD”, E. C. “. F. C., Oct 2015, In: Gastroenterology. 149, 4, p. 1017-29.e3 16 p.

Research output: Contribution to journal › Journal article › Research › peer-review

A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma

Wadt, K. A. W., Aoude, L. G., Johansson, P., Solinas, A., Pritchard, A., Crainic, O., Andersen, M. T., Kiilgaard, J. F., Heegaard, S., Sunde, L., Federspiel, B., Madore, J., Thompson, J. F., McCarthy, S. W., Goodwin, A., Tsao, H., Jönsson, G., Busam, K., Gupta, R., Trent, J. M. & 4 others, Gerdes, Anne-Marie Axø, Brown, K. M., Scolyer, R. A. & Hayward, N. K., Sep 2015, In: Clinical Genetics. 88, 3, p. 267-272 6 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Germline RAD51B truncating mutation in a family with cutaneous melanoma

Wadt, K. A. W., Aoude, L. G., Golmard, L., Hansen, T. V. O., Sastre-Garau, X., Hayward, N. K. & Gerdes, Anne-Marie Axø, Jun 2015, In: Familial Cancer. 14, 2, p. 337-40 4 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

Rebbeck, T. R., Mitra, N., Wan, F., Sinilnikova, O. M., Healey, S., McGuffog, L., Mazoyer, S., Chenevix-Trench, G., Easton, D. F., Antoniou, A. C., Nathanson, K. L., Laitman, Y., Kushnir, A., Paluch-Shimon, S., Berger, R., Zidan, J., Friedman, E., Ehrencrona, H., Stenmark-Askmalm, M., Einbeigi, Z. & 31 others, Loman, N., Harbst, K., Rantala, J., Melin, B., Huo, D., Olopade, O. I., Seldon, J., Ganz, P. A., Nussbaum, R. L., Chan, S. B., Odunsi, K., Gayther, S. A., Domchek, S. M., Arun, B. K., Lu, K. H., Mitchell, G., Karlan, B. Y., Walsh, C., Lester, J., Godwin, A. K., Pathak, H., Ross, E., Daly, M. B., Whittemore, A. S., John, E. M., Miron, A., Terry, M. B., Chung, W. K., Ejlertsen, Bent Laursen, Gerdes, Anne-Marie Axø & CIMBA Consortium, C. C., 7 Apr 2015, In: J A M A: The Journal of the American Medical Association. 313, 13, p. 1347-61 15 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

Blanco, I., Kuchenbaecker, K., Cuadras, D., Wang, X., Barrowdale, D., de Garibay, G. R., Librado, P., Sánchez-Gracia, A., Rozas, J., Bonifaci, N., McGuffog, L., Pankratz, V. S., Islam, A., Mateo, F., Berenguer, A., Petit, A., Català, I., Brunet, J., Feliubadaló, L., Tornero, E. & 31 others, Benítez, J., Osorio, A., Ramón y Cajal, T., Nevanlinna, H., Aittomäki, K., Arun, B. K., Toland, A. E., Karlan, B. Y., Walsh, C., Lester, J., Greene, M. H., Mai, P. L., Nussbaum, R. L., Andrulis, I. L., Domchek, S. M., Nathanson, K. L., Rebbeck, T. R., Barkardottir, R. B., Jakubowska, A., Lubinski, J., Durda, K., Jaworska-Bieniek, K., Claes, K., Van Maerken, T., Díez, O., Hansen, T. V., Jønson, L., Gerdes, Anne-Marie Axø, Ejlertsen, B., de la Hoya, M. & Teixeira, T., Apr 2015, In: P L o S One. 10, 4, p. 1-18 18 p., e0120020.

Research output: Contribution to journal › Journal article › Research › peer-review

Molecular Characterization of Melanoma Cases in Denmark Suspected of Genetic Predisposition

Wadt, K. A. W., Aoude, L. G., Krogh, L., Sunde, L., Bojesen, A., Gronskov, K., Wartacz, N., Ek, J., Tolstrup-Andersen, M., Klarskov-Andersen, M., Borg, A., Heegaard, Steffen, Kiilgaard, Jens Folke, Hansen, T. V. O., Klein, K., Jonsson, G., Drzewiecki, K. T., Duno, M., Hayward, N. K. & Gerdes, Anne-Marie Axø, 24 Mar 2015, In: P L o S One. 10, 3, p. 1-16 16 p., e0122662.

Research output: Contribution to journal › Journal article › Research › peer-review

Identification of a breast cancer family double heterozygote for RAD51C and BRCA2 gene mutations

Ahlborn, L. B., Steffensen, A. Y., Jønson, L., Djursby, M., Nielsen, Finn Cilius, Gerdes, Anne-Marie Axø & Hansen, T. V. O., 18 Mar 2015, In: Familial Cancer. 14, 1, p. 129-133 5 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

Kuchenbaecker, K. B., Ramus, S. J., Tyrer, J., Lee, A., Shen, H. C., Beesley, J., Lawrenson, K., McGuffog, L., Healey, S., Lee, J. M., Spindler, T. J., Lin, Y. G., Pejovic, T., Bean, Y., Li, Q., Coetzee, S., Hazelett, D., Miron, A., Southey, M., Terry, M. B. & 31 others, Goldgar, D. E., Buys, S. S., Janavicius, R., Dorfling, C. M., van Rensburg, E. J., Neuhausen, S. L., Ding, Y. C., Hansen, T. V. O., Jønson, L., Gerdes, Anne-Marie Axø, Ejlertsen, B., Barrowdale, D., Dennis, J., Benitez, J., Osorio, A., Garcia, M. J., Komenaka, I., Weitzel, J. N., Ganschow, P., Peterlongo, P., Bernard, L., Viel, A., Bonanni, B., Jensen, A., Kjær, Susanne Krüger, Høgdall, Estrid Vilma Solyom, Høgdall, Claus Kim, Lundvall, L., Nedergaard, L., Gao, Y. & EMBRACE, E., Feb 2015, In: Nature Genetics. 47, 2, p. 164-71, 3 unpag. p. 11 p.

Research output: Contribution to journal › Letter › Research › peer-review

Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma

Aoude, L. G., Pritchard, A. L., Robles-Espinoza, C. D., Wadt, K., Harland, M., Choi, J., Gartside, M., Quesada, V., Johansson, P., Palmer, J. M., Ramsay, A. J., Zhang, X., Jones, K., Symmons, J., Holland, E. A., Schmid, H., Bonazzi, V., Woods, S., Dutton-Regester, K., Stark, M. S. & 19 others, Snowden, H., van Doorn, R., Montgomery, G. W., Martin, N. G., Keane, T. M., López-Otín, C., Gerdes, Anne-Marie Axø, Olsson, H., Ingvar, C., Borg, A., Gruis, N. A., Trent, J. M., Jönsson, G., Bishop, D. T., Mann, G. J., Newton-Bishop, J. A., Brown, K. M., Adams, D. J. & Hayward, N. K., Feb 2015, In: JNCI - Journal of the National Cancer Institute. 107, 2, p. 1-7 7 p., 408.

Research output: Contribution to journal › Journal article › Research › peer-review

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

Peterlongo, P., Chang-Claude, J., Moysich, K. B., Rudolph, A., Schmutzler, R. K., Simard, J., Soucy, P., Eeles, R. A., Easton, D. F., Hamann, U., Wilkening, S., Chen, B., Rookus, M. A., Schmidt, M. K., van der Baan, F. H., Spurdle, A. B., Walker, L. C., Lose, F., Maia, A-T., Montagna, M. & 31 others, Matricardi, L., Lubinski, J., Jakubowska, A., Gómez Garcia, E. B., Olopade, O. I., Nussbaum, R. L., Nathanson, K. L., Domchek, S. M., Rebbeck, T. R., Arun, B. K., Karlan, B. Y., Orsulic, S., Lester, J., Chung, W. K., Miron, A., Southey, M. C., Goldgar, D. E., Buys, S. S., Janavicius, R., Dorfling, C. M., van Rensburg, E. J., Ding, Y. C., Neuhausen, S. L., Hansen, T. V. O., Gerdes, Anne-Marie Axø, Ejlertsen, B., Jønson, L., Osorio, A., Martínez-Bouzas, C., Benitez, J. & EMBRACE, E., Jan 2015, In: Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology. 24, 1, p. 308-16 9 p.

Research output: Contribution to journal › Journal article › Research › peer-review

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

Blein, S., Bardel, C., Danjean, V., McGuffog, L., Healey, S., Barrowdale, D., Lee, A., Dennis, J., Kuchenbaecker, K. B., Soucy, P., Terry, M. B., Chung, W. K., Goldgar, D. E., Buys, S. S., Janavicius, R., Tihomirova, L., Tung, N., Dorfling, C. M., van Rensburg, E. J., Neuhausen, S. L. & 31 others, Ding, Y. C., Gerdes, Anne-Marie Axø, Ejlertsen, B., Nielsen, Finn Cilius, Hansen, T. V., Osorio, A., Benitez, J., Conejero, R. A., Segota, E., Weitzel, J. N., Thelander, M., Peterlongo, P., Radice, P., Pensotti, V., Dolcetti, R., Bonanni, B., Peissel, B., Zaffaroni, D., Scuvera, G., Manoukian, S., Varesco, L., Capone, G. L., Papi, L., Ottini, L., Yannoukakos, D., Konstantopoulou, I., Garber, J., Hamann, U., Donaldson, A., Brady, A. & Breast Cancer Family Registry, B. C. F. R., 2015, In: Breast cancer research : BCR. 17, 1, p. 1-15 15 p., 61.

Research output: Contribution to journal › Journal article › Research › peer-review

Cowden Syndrome and Concomitant Pulmonary Neuroendocrine Tumor: A Presentation of Two Cases

Langer, Seppo W., Ringholm, L., Dali, C. I., Petersen, René Horsleben, Rasmussen, Å. K., Gerdes, Anne-Marie Axø, Federspiel, B. & Knigge, Ulrich, 2015, In: Case Reports in Medicine. 2015, p. 1-4 4 p., 265786.

Research output: Contribution to journal › Journal article › Research › peer-review

Functional characterization of BRCA1 gene variants by mini-gene splicing assay

Steffensen, A. Y., Dandanell, M., Jønson, L., Ejlertsen, B., Gerdes, Anne-Marie Axø, Nielsen, Finn Cilius & Hansen, T. V., Dec 2014, In: European Journal of Human Genetics. 22, 12, p. 1362-1368 7 p.

Research output: Contribution to journal › Journal article › Research › peer-review

CDKN2A-mutation hos en familie med arveligt malignt melanom

Djursby, M., Wadt, K., Lorentzen, H., Borg, A., Gerdes, Anne-Marie Axø & Krogh, L., 29 Sep 2014, In: Ugeskrift for Laeger. 176, 40, p. 2-3 2 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Prophylactic total gastrectomy in hereditary diffuse gastric cancer: identification of two novel CDH1 gene mutations-a clinical observational study

Bardram, L., Hansen, T. V. O., Gerdes, Anne-Marie Axø, Timshel, S., Friis-Hansen, L. & Federspiel, B., Jun 2014, In: Familial Cancer. 13, 2, p. 231-242 12 p.

Research output: Contribution to journal › Journal article › Research › peer-review

DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Osorio, A., Milne, R. L., Kuchenbaecker, K., Vaclová, T., Pita, G., Alonso, R., Peterlongo, P., Blanco, I., de la Hoya, M., Duran, M., Díez, O., Ramón Y Cajal, T., Konstantopoulou, I., Martínez-Bouzas, C., Andrés Conejero, R., Soucy, P., McGuffog, L., Barrowdale, D., Lee, A., Swe-Brca & 180 others, Arver, B., Rantala, J., Loman, N., Ehrencrona, H., Olopade, O. I., Beattie, M. S., Domchek, S. M., Nathanson, K., Rebbeck, T. R., Arun, B. K., Karlan, B. Y., Walsh, C., Lester, J., John, E. M., Whittemore, A. S., Daly, M. B., Southey, M., Hopper, J., Terry, M. B., Buys, S. S., Janavicius, R., Dorfling, C. M., van Rensburg, E. J., Steele, L., Neuhausen, S. L., Ding, Y. C., Hansen, T. V. O., Jønson, L., Ejlertsen, B., Gerdes, Anne-Marie Axø, Infante, M., Herráez, B., Moreno, L. T., Weitzel, J. N., Herzog, J., Weeman, K., Manoukian, S., Peissel, B., Zaffaroni, D., Scuvera, G., Bonanni, B., Mariette, F., Volorio, S., Viel, A., Varesco, L., Papi, L., Ottini, L., Tibiletti, M. G., Radice, P., Yannoukakos, D., Garber, J., Ellis, S., Frost, D., Platte, R., Fineberg, E., Evans, G., Lalloo, F., Izatt, L., Eeles, R., Adlard, J., Davidson, R., Cole, T., Eccles, D., Cook, J., Hodgson, S., Brewer, C., Tischkowitz, M., Douglas, F., Porteous, M., Side, L., Walker, L., Morrison, P., Donaldson, A., Kennedy, J., Foo, C., Godwin, A. K., Schmutzler, R. K., Wappenschmidt, B., Rhiem, K., Engel, C., Meindl, A., Ditsch, N., Arnold, N., Plendl, H. J., Niederacher, D., Sutter, C., Wang-Gohrke, S., Steinemann, D., Preisler-Adams, S., Kast, K., Varon-Mateeva, R., Gehrig, A., Stoppa-Lyonnet, D., Sinilnikova, O. M., Mazoyer, S., Damiola, F., Poppe, B., Claes, K., Piedmonte, M., Tucker, K., Backes, F., Rodríguez, G., Brewster, W., Wakeley, K., Rutherford, T., Caldés, T., Nevanlinna, H., Aittomäki, K., Rookus, M. A., van Os, T. A. M., van der Kolk, L., de Lange, J. L., Meijers-Heijboer, H. E. J., van der Hout, A. H., van Asperen, C. J., Gómez Garcia, E. B., Hoogerbrugge, N., Collée, J. M., van Deurzen, C. H. M., van der Luijt, R. B., Devilee, P., Hebon, Olah, E., Lázaro, C., Teulé, A., Menéndez, M., Jakubowska, A., Cybulski, C., Gronwald, J., Lubinski, J., Durda, K., Jaworska-Bieniek, K., Johannsson, O. T., Maugard, C., Montagna, M., Tognazzo, S., Teixeira, M. R., Healey, S., Investigators, K., Olswold, C., Guidugli, L., Lindor, N., Slager, S., Szabo, C. I., Vijai, J., Robson, M., Kauff, N., Zhang, L., Rau-Murthy, R., Fink-Retter, A., Singer, C. F., Rappaport, C., Geschwantler Kaulich, D., Pfeiler, G., Tea, M., Berger, A., Phelan, C. M., Greene, M. H., Mai, P. L., Lejbkowicz, F., Andrulis, I., Mulligan, A. M., Glendon, G., Toland, A. E., Bojesen, A., Pedersen, I. S., Sunde, L., Thomassen, M., Kruse, T. A., Jensen, U. B., Friedman, E., Laitman, Y., Shimon, S. P., Simard, J., Easton, D. F., Offit, K., Couch, F. J., Chenevix-Trench, G., Antoniou, A. C. & Benitez, J., Apr 2014, In: P L o S Genetics. 10, 4, p. 1-12 12 p., e1004256.

Research output: Contribution to journal › Journal article › Research › peer-review

Hereditary breast cancer: clinical, pathological and molecular characteristics

Larsen, M. J., Thomassen, M., Gerdes, Anne-Marie Axø & Kruse, T. A., 2014, In: Breast Cancer: Basic and Clinical Research. 8, p. 145-155 11 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Is Colorectal Neoplasia Part of the Birt-Hogg-Dub Syndrome?

Boman, P. S., Ousager, L. B., Friis-Hansen, L., Hansen, T. V. O., Broesby-Olsen, S. & Gerdes, Anne-Marie Axø, 2014, In: Journal of Gastroenterology and Hepatology Research. 3, 4, p. 1039-1042 4 p.

Research output: Contribution to journal › Journal article › Research › peer-review

RNA profiling reveals familial aggregation of molecular subtypes in non-BRCA1/2 breast cancer families

Larsen, M. J., Thomassen, M., Tan, Q., Lænkholm, Anne-Vibeke, Bak, M., Sørensen, K. P., Andersen, M. K., Kruse, T. A. & Gerdes, Anne-Marie Axø, 2014, In: B M C Medical Genomics. 7, p. 9

Research output: Contribution to journal › Journal article › Research › peer-review

Von Hippel-Lindau disease (vHL)

Binderup, M. L. M., Bisgaard, S. M. L., Harbud, V., Møller, H. U., Gimsing, S., Friis-Hansen, Lennart Jan, Hansen, Thomas van Overeem, Bagi, P., Knigge, Ulrich, Kosteljanetz, M., Bøgeskov, L., Thomsen, C., Gerdes, Anne-Marie Axø, Ousager, L. B. & Sunde, L., Dec 2013, In: Danish Medical Journal. 60, 12, p. B4763

Research output: Contribution to journal › Journal article › Research › peer-review

A BAP1 Mutation in a Danish Family Predisposes to Uveal Melanoma and Other Cancers

Aoude, L. G., Wadt, K., Bojesen, A., Cr�ger, D. G., Borg, A., Trent, J. M., Brown, K. M., Gerdes, Anne-Marie Axø, Jönsson, G. & Hayward, N. K., Aug 2013, In: P L o S One. 8, 8, p. 1-5 5 p., e72144.

Research output: Contribution to journal › Journal article › Research › peer-review

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

Bojesen, S. E., Pooley, K. A., Johnatty, S. E., Beesley, J., Michailidou, K., Tyrer, J. P., Edwards, S. L., Pickett, H. A., Shen, H. C., Smart, C. E., Hillman, K. M., Mai, P. L., Lawrenson, K., Stutz, M. D., Lu, Y., Karevan, R., Woods, N., Johnston, R. L., French, J. D., Chen, X. & 31 others, Weischer, M., Nielsen, S. F., Maranian, M. J., Ghoussaini, M., Ahmed, S., Baynes, C., Bolla, M. K., Wang, Q., Dennis, J., McGuffog, L., Barrowdale, D., Lee, A. R., Healey, S., Lush, M., Tessier, D. C., Vincent, D., Bacot, F., Vergote, I., Lambrechts, S., Despierre, E., Risch, H. A., González-Neira, A., Rossing, M. A., Pita, G., Doherty, J. A., Alvarez, N., Nordestgaard, Børge, Engelholm, S. A., Høgdall, Claus Kim, Gerdes, Anne-Marie Axø & Australian Cancer Study, A. C. S., Apr 2013, In: Nature Genetics. 45, 4, p. 371-84, 384e1-2

Research output: Contribution to journal › Journal article › Research › peer-review

Genomsekventering – klinisk anvendelse

Hertz, J. M., Gerdes, Anne-Marie Axø, Grønskov, K., Thomassen, M. & Vogel, I., 18 Mar 2013, In: Ugeskrift for Laeger. 175, 12, p. 818 1 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

Couch, F. J., Gerdes, Anne-Marie Axø, Nielsen, Finn Cilius & al., E., Mar 2013, In: P L o S Genetics. 9, 3, p. 1-21 21 p., e1003212.

Research output: Contribution to journal › Journal article › Research › peer-review

Classifications within molecular subtypes enables identification of BRCA1/BRCA2 mutation carriers by RNA tumor profiling

Larsen, M. J., Kruse, T. A., Tan, Q., Lænkholm, Anne-Vibeke, Bak, M., Lykkesfeldt, A. E., Sørensen, K. P., Hansen, Thomas van Overeem, Ejlertsen, Bent Laursen, Gerdes, Anne-Marie Axø & Thomassen, M., 2013, In: P L o S One. 8, 5, 12 p., e64268.

Research output: Contribution to journal › Journal article › Research › peer-review

Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients

Petersen, S. M., Dandanell, M., Rasmussen, Lene Juel, Gerdes, Anne-Marie Axø, Krogh, L. N., Bernstein, I., Okkels, H., Wikman, F., Nielsen, Finn Cilius & Hansen, Thomas van Overeem, 2013, In: BMC Medical Genetics. 14, p. 103

Research output: Contribution to journal › Journal article › Research › peer-review

Tamoxifen and Risk of Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers

Phillips, K-A., Milne, R. L., Rookus, M. A., Daly, M. B., Antoniou, A. C., Peock, S., Frost, D., Easton, D. F., Ellis, S., Friedlander, M. L., Buys, S. S., Andrieu, N., Noguès, C., Stoppa-Lyonnet, D., Bonadona, V., Pujol, P., McLachlan, S. A., John, E. M., Hooning, M. J., Seynaeve, C. & 16 others, Tollenaar, R. A. E. M., Goldgar, D. E., Terry, M. B., Caldes, T., Weideman, P. C., Andrulis, I. L., Singer, C. F., Birch, K., Simard, J., Southey, M. C., Olsson, H. L., Jakubowska, A., Olah, E., Gerdes, Anne-Marie Axø, Foretova, L. & Hopper, J. L., 2013, In: Journal of Clinical Oncology. 31, 25, p. 3091-3099 9 p.

Research output: Contribution to journal › Journal article › Research › peer-review

Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

Mathers, J. C., Movahedi, M., Macrae, F., Mecklin, J-P., Moeslein, G., Olschwang, S., Eccles, D., Evans, G., Maher, E. R., Bertario, L., Bisgaard, S. M. L., Dunlop, M., Ho, J. W., Hodgson, S., Lindblom, A., Lubinski, J., Morrison, P. J., Murday, V., Ramesar, R., Side, L. & 14 others, Scott, R. J., Thomas, H. J., Vasen, H., Gerdes, Anne-Marie Axø, Barker, G., Crawford, G., Elliott, F., Pylvanainen, K., Wijnen, J., Fodde, R., Lynch, H., Bishop, D. T., Burn, J. & on behalf of the CAPP2 Investigators, O. B. O. T. C. I., Dec 2012, In: The Lancet Oncology. 13, 12, p. 1242-1249 8 p.

Research output: Contribution to journal › Journal article › Research › peer-review

A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma.

Wadt, K., Choi, J., Chung, J. Y., Kiilgaard, Jens Folke, Heegaard, Steffen, Drzewiecki, K. T. M., Trent, J. M., Hewitt, S. M., Hayward, N. K., Gerdes, Anne-Marie Axø & Brown, K. M., Nov 2012, In: Pigment Cell & Melanoma Research. 25, 6, p. 815-818 4 p.

Research output: Contribution to journal › Journal article › Research › peer-review