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Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review


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  • Timothy R Rebbeck
  • Tara M Friebel
  • Eitan Friedman
  • Ute Hamann
  • Dezheng Huo
  • Ava Kwong
  • Edith Olah
  • Olufunmilayo I Olopade
  • Angela R Solano
  • Soo-Hwang Teo
  • Mads Thomassen
  • Jeffrey N Weitzel
  • T L Chan
  • Fergus J Couch
  • David E Goldgar
  • Torben A Kruse
  • Edenir Inêz Palmero
  • Sue Kyung Park
  • Diana Torres
  • Elizabeth J van Rensburg
  • Lesley McGuffog
  • Michael T Parsons
  • Goska Leslie
  • Cora M Aalfs
  • Julio Abugattas
  • Julian Adlard
  • Simona Agata
  • Kristiina Aittomäki
  • Lesley Andrews
  • Irene L Andrulis
  • Adalgeir Arason
  • Norbert Arnold
  • Banu K Arun
  • Ella Asseryanis
  • Leo Auerbach
  • Jacopo Azzollini
  • Judith Balmaña
  • Monica Barile
  • Rosa B Barkardottir
  • Daniel Barrowdale
  • Javier Benitez
  • Andreas Berger
  • Raanan Berger
  • Amie M Blanco
  • Kathleen R Blazer
  • Marinus J Blok
  • Bent Ejlertsen
  • Anne-Marie Gerdes
  • Finn Cilius Nielsen
  • Ane Y Schmidt
Vis graf over relationer

The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on Caucasians 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 6 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. This article is protected by copyright. All rights reserved.

TidsskriftHuman Mutation
Udgave nummer5
Sider (fra-til)593-620
StatusUdgivet - 2018

ID: 52738680