Homologous recombination and human health: The roles of BRCA1, BRCA2, and associated proteins Journal Article


Authors: Prakash, R.; Zhang, Y.; Feng, W.; Jasin, M.
Article Title: Homologous recombination and human health: The roles of BRCA1, BRCA2, and associated proteins
Abstract: Homologous recombination (HR) is a major pathway for the repair of DNA double-strand breaks in mammalian cells, the defining step of which is homologous strand exchange directed by the RAD51 protein. The physiological importance of HR is underscored by the observation of genomic instability in HR-deficient cells and, importantly, the association of cancer predisposition and developmental defects with mutations in HR genes. The tumor suppressors BRCA1 and BRCA2, key players at different stages of HR, are frequently mutated in familial breast and ovarian cancers. Other HR proteins, including PALB2 and RAD51 paralogs, have also been identified as tumor suppressors. This review summarizes recent findings on BRCA1, BRCA2, and associated proteins involved in human disease with an emphasis on their molecular roles and interactions. © 2015 Cold Spring Harbor Laboratory Press; all rights reserved.
Keywords: mammalia
Journal Title: Cold Spring Harbor Perspectives in Medicine
Volume: 7
Issue: 4
ISSN: 2157-1422
Publisher: Cold Spring Harbor Laboratory Press  
Date Published: 2015-04-01
Start Page: a016600
Language: English
DOI: 10.1101/cshperspect.a016600
PROVIDER: scopus
PMCID: PMC4382744
PUBMED: 25833843
DOI/URL:
Notes: Export Date: 4 May 2015 -- Source: Scopus
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MSK Authors
  1. Rohit Prakash
    10 Prakash
  2. Maria Jasin
    231 Jasin
  3. Yu Zhang
    8 Zhang
  4. Weiran Feng
    4 Feng