Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00209805%3A_____%2F18%3A00078008" target="_blank" >RIV/00209805:_____/18:00078008 - isvavai.cz</a>
Result on the web
<a href="https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.23406" target="_blank" >https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.23406</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1002/humu.23406" target="_blank" >10.1002/humu.23406</a>
Alternative languages
Result language
angličtina
Original language name
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
Original language description
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.
Czech name
—
Czech description
—
Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
30204 - Oncology
Result continuities
Project
<a href="/en/project/LO1413" target="_blank" >LO1413: RECAMO2020</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2018
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Human mutation
ISSN
1059-7794
e-ISSN
—
Volume of the periodical
39
Issue of the periodical within the volume
5
Country of publishing house
US - UNITED STATES
Number of pages
28
Pages from-to
593-620
UT code for WoS article
000433600000001
EID of the result in the Scopus database
2-s2.0-85043494756