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In Brief: BRCA1 and BRCA2
Author(s) -
Foulkes William D,
Shuen Andrew Y
Publication year - 2013
Publication title -
the journal of pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.964
H-Index - 184
eISSN - 1096-9896
pISSN - 0022-3417
DOI - 10.1002/path.4205
Subject(s) - breast cancer , brca2 protein , genetics , identification (biology) , gene , biology , genealogy , medicine , cancer , cancer research , mutation , history , germline mutation , botany
The discovery of the first major breast cancer susceptibility gene, BRCA1 , occurred almost 20 years ago. BRCA1 , together with BRCA2 remain the most important discoveries in human cancer genetics. Identification of highly penetrant mutations in these two tumour suppressor genes has had broad implications for women at risk and their families, for health professionals caring for these persons and for basic researchers. The BRCA proteins have many critical functions, the most notable of which, from a clinical perspective, is repair of double‐strand DNA breaks. Copyright © 2013 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.