Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
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Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. / EMBRACE.
I: Human Mutation, Bind 39, Nr. 5, 2018, s. 593-620.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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T1 - Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
AU - Rebbeck, Timothy R
AU - Friebel, Tara M
AU - Friedman, Eitan
AU - Hamann, Ute
AU - Huo, Dezheng
AU - Kwong, Ava
AU - Olah, Edith
AU - Olopade, Olufunmilayo I
AU - Solano, Angela R
AU - Teo, Soo-Hwang
AU - Thomassen, Mads
AU - Weitzel, Jeffrey N
AU - Chan, T L
AU - Couch, Fergus J
AU - Goldgar, David E
AU - Kruse, Torben A
AU - Palmero, Edenir Inêz
AU - Park, Sue Kyung
AU - Torres, Diana
AU - van Rensburg, Elizabeth J
AU - McGuffog, Lesley
AU - Parsons, Michael T
AU - Leslie, Goska
AU - Aalfs, Cora M
AU - Abugattas, Julio
AU - Adlard, Julian
AU - Agata, Simona
AU - Aittomäki, Kristiina
AU - Andrews, Lesley
AU - Andrulis, Irene L
AU - Arason, Adalgeir
AU - Arnold, Norbert
AU - Arun, Banu K
AU - Asseryanis, Ella
AU - Auerbach, Leo
AU - Azzollini, Jacopo
AU - Balmaña, Judith
AU - Barile, Monica
AU - Barkardottir, Rosa B
AU - Barrowdale, Daniel
AU - Benitez, Javier
AU - Berger, Andreas
AU - Berger, Raanan
AU - Blanco, Amie M
AU - Blazer, Kathleen R
AU - Blok, Marinus J
AU - Bonadona, Valérie
AU - Ejlertsen, Bent
AU - Gerdes, Anne-Marie
AU - Nielsen, Finn Cilius
AU - EMBRACE
N1 - © 2018 Wiley Periodicals, Inc.
PY - 2018
Y1 - 2018
N2 - The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on six continents. This study comprehensively describes the characteristics of the 1,650 unique BRCA1 and 1,731 unique BRCA2 deleterious (disease-associated) mutations identified in the CIMBA database. We observed substantial variation in mutation type and frequency by geographical region and race/ethnicity. In addition to known founder mutations, mutations of relatively high frequency were identified in specific racial/ethnic or geographic groups that may reflect founder mutations and which could be used in targeted (panel) first pass genotyping for specific populations. Knowledge of the population-specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad-based oncogenetic testing in some populations.
AB - The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on six continents. This study comprehensively describes the characteristics of the 1,650 unique BRCA1 and 1,731 unique BRCA2 deleterious (disease-associated) mutations identified in the CIMBA database. We observed substantial variation in mutation type and frequency by geographical region and race/ethnicity. In addition to known founder mutations, mutations of relatively high frequency were identified in specific racial/ethnic or geographic groups that may reflect founder mutations and which could be used in targeted (panel) first pass genotyping for specific populations. Knowledge of the population-specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad-based oncogenetic testing in some populations.
U2 - 10.1002/humu.23406
DO - 10.1002/humu.23406
M3 - Journal article
C2 - 29446198
VL - 39
SP - 593
EP - 620
JO - Human Mutation
JF - Human Mutation
SN - 1059-7794
IS - 5
ER -
ID: 214517841