Identification of six new susceptibility loci for invasive epithelial ovarian cancer
Publikation: Bidrag til tidsskrift › Letter › Forskning › fagfællebedømt
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Identification of six new susceptibility loci for invasive epithelial ovarian cancer. / Kuchenbaecker, Karoline B; Ramus, Susan J; Tyrer, Jonathan; Lee, Andrew; Shen, Howard C; Beesley, Jonathan; Lawrenson, Kate; McGuffog, Lesley; Healey, Sue; Lee, Janet M; Spindler, Tassja J; Lin, Yvonne G; Pejovic, Tanja; Bean, Yukie; Li, Qiyuan; Coetzee, Simon; Hazelett, Dennis; Miron, Alexander; Southey, Melissa; Terry, Mary Beth; Goldgar, David E; Buys, Saundra S; Janavicius, Ramunas; Dorfling, Cecilia M; van Rensburg, Elizabeth J; Neuhausen, Susan L; Ding, Yuan Chun; Hansen, Thomas V O; Jønson, Lars; Gerdes, Anne-Marie; Ejlertsen, Bent; Barrowdale, Daniel; Dennis, Joe; Benitez, Javier; Osorio, Ana; Garcia, Maria Jose; Komenaka, Ian; Weitzel, Jeffrey N; Ganschow, Pamela; Peterlongo, Paolo; Bernard, Loris; Viel, Alessandra; Bonanni, Bernardo; Jensen, Allan; Kjaer, Susanne Kruger; Hogdall, Estrid; Hogdall, Claus; Lundvall, Lene; Nedergaard, Lotte; Gao, Yu-Tang; EMBRACE.
I: Nature Genetics, Bind 47, Nr. 2, 02.2015, s. 164-71, 3 unpag. p.Publikation: Bidrag til tidsskrift › Letter › Forskning › fagfællebedømt
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TY - JOUR
T1 - Identification of six new susceptibility loci for invasive epithelial ovarian cancer
AU - Kuchenbaecker, Karoline B
AU - Ramus, Susan J
AU - Tyrer, Jonathan
AU - Lee, Andrew
AU - Shen, Howard C
AU - Beesley, Jonathan
AU - Lawrenson, Kate
AU - McGuffog, Lesley
AU - Healey, Sue
AU - Lee, Janet M
AU - Spindler, Tassja J
AU - Lin, Yvonne G
AU - Pejovic, Tanja
AU - Bean, Yukie
AU - Li, Qiyuan
AU - Coetzee, Simon
AU - Hazelett, Dennis
AU - Miron, Alexander
AU - Southey, Melissa
AU - Terry, Mary Beth
AU - Goldgar, David E
AU - Buys, Saundra S
AU - Janavicius, Ramunas
AU - Dorfling, Cecilia M
AU - van Rensburg, Elizabeth J
AU - Neuhausen, Susan L
AU - Ding, Yuan Chun
AU - Hansen, Thomas V O
AU - Jønson, Lars
AU - Gerdes, Anne-Marie
AU - Ejlertsen, Bent
AU - Barrowdale, Daniel
AU - Dennis, Joe
AU - Benitez, Javier
AU - Osorio, Ana
AU - Garcia, Maria Jose
AU - Komenaka, Ian
AU - Weitzel, Jeffrey N
AU - Ganschow, Pamela
AU - Peterlongo, Paolo
AU - Bernard, Loris
AU - Viel, Alessandra
AU - Bonanni, Bernardo
AU - Jensen, Allan
AU - Kjaer, Susanne Kruger
AU - Hogdall, Estrid
AU - Hogdall, Claus
AU - Lundvall, Lene
AU - Nedergaard, Lotte
AU - Gao, Yu-Tang
AU - EMBRACE
PY - 2015/2
Y1 - 2015/2
N2 - Genome-wide association studies (GWAS) have identified 12 epithelial ovarian cancer (EOC) susceptibility alleles. The pattern of association at these loci is consistent in BRCA1 and BRCA2 mutation carriers who are at high risk of EOC. After imputation to 1000 Genomes Project data, we assessed associations of 11 million genetic variants with EOC risk from 15,437 cases unselected for family history and 30,845 controls and from 15,252 BRCA1 mutation carriers and 8,211 BRCA2 mutation carriers (3,096 with ovarian cancer), and we combined the results in a meta-analysis. This new study design yielded increased statistical power, leading to the discovery of six new EOC susceptibility loci. Variants at 1p36 (nearest gene, WNT4), 4q26 (SYNPO2), 9q34.2 (ABO) and 17q11.2 (ATAD5) were associated with EOC risk, and at 1p34.3 (RSPO1) and 6p22.1 (GPX6) variants were specifically associated with the serous EOC subtype, all with P < 5 × 10(-8). Incorporating these variants into risk assessment tools will improve clinical risk predictions for BRCA1 and BRCA2 mutation carriers.
AB - Genome-wide association studies (GWAS) have identified 12 epithelial ovarian cancer (EOC) susceptibility alleles. The pattern of association at these loci is consistent in BRCA1 and BRCA2 mutation carriers who are at high risk of EOC. After imputation to 1000 Genomes Project data, we assessed associations of 11 million genetic variants with EOC risk from 15,437 cases unselected for family history and 30,845 controls and from 15,252 BRCA1 mutation carriers and 8,211 BRCA2 mutation carriers (3,096 with ovarian cancer), and we combined the results in a meta-analysis. This new study design yielded increased statistical power, leading to the discovery of six new EOC susceptibility loci. Variants at 1p36 (nearest gene, WNT4), 4q26 (SYNPO2), 9q34.2 (ABO) and 17q11.2 (ATAD5) were associated with EOC risk, and at 1p34.3 (RSPO1) and 6p22.1 (GPX6) variants were specifically associated with the serous EOC subtype, all with P < 5 × 10(-8). Incorporating these variants into risk assessment tools will improve clinical risk predictions for BRCA1 and BRCA2 mutation carriers.
KW - Adolescent
KW - Adult
KW - Alleles
KW - BRCA1 Protein
KW - BRCA2 Protein
KW - Female
KW - Genes, Reporter
KW - Genetic Predisposition to Disease
KW - Genome-Wide Association Study
KW - Genotype
KW - Heterozygote
KW - Humans
KW - Mutation
KW - Neoplasms, Glandular and Epithelial
KW - Ovarian Neoplasms
KW - Polymorphism, Single Nucleotide
KW - Quantitative Trait Loci
KW - Risk
KW - Young Adult
U2 - 10.1038/ng.3185
DO - 10.1038/ng.3185
M3 - Letter
C2 - 25581431
VL - 47
SP - 164-71, 3 unpag. p.
JO - Nature Genetics
JF - Nature Genetics
SN - 1061-4036
IS - 2
ER -
ID: 161189420