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Genomic rearrangements in the BRCA1 and BRCA2 genes
Author(s) -
Mazoyer Sylvie
Publication year - 2005
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.20169
Subject(s) - biology , genetics , gene , hum , exon , breakpoint , brca2 protein , coding region , point mutation , mutation , chromosome , germline mutation , art , performance art , art history
Mutations in the BRCA1 and BRCA2 genes predispose women to breast and ovarian cancer. BRCA1 and BRCA2 are 83 and 86 kb long, with coding sequences of 5.7 and 10.2 kb, scattered over 22 and 26 coding exons, respectively. The large majority of the alterations identified in these genes are point mutations and small insertions/deletions. However, an increasing number of large genomic rearrangements are being identified, especially in BRCA1 . This review gives a brief overview of the techniques used to screen the BRCA1 and BRCA2 genes for large rearrangements, and describes those for which the breakpoints have been characterized. The principal mechanisms that are thought to lead to their formation, founder effects, and recombination hotspots, are also discussed. Hum Mutat 25:415–422, 2005. © 2005 Wiley‐Liss, Inc.