Homologous recombination and human health: the roles of BRCA1, BRCA2, and associated proteins

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-de...

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Bibliographic Details
Published in:Cold Spring Harbor perspectives in biology 2015-04, Vol.7 (4), p.a016600-a016600
Main Authors: Prakash, Rohit, Zhang, Yu, Feng, Weiran, Jasin, Maria
Format: Article
Language:English
Subjects:
Animals
BRCA1 Protein - genetics
BRCA1 Protein - metabolism
BRCA2 Protein - genetics
BRCA2 Protein - metabolism
Fanconi Anemia Complementation Group N Protein
Homologous Recombination
Humans
Neoplasms - genetics
Neoplasms - metabolism
Nuclear Proteins - genetics
Nuclear Proteins - metabolism
PERSPECTIVES
Rad51 Recombinase - metabolism
Tumor Suppressor Proteins - genetics
Tumor Suppressor Proteins - metabolism
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Summary: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.
ISSN:1943-0264
1943-0264
DOI:10.1101/cshperspect.a016600