BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers.
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ABSTRACT:
SUBMITTER: Maxwell KN
PROVIDER: S-EPMC5567274 | biostudies-literature | 2017 Aug
REPOSITORIES: biostudies-literature
Publications
BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers.
Maxwell Kara N KN Wubbenhorst Bradley B Wenz Brandon M BM De Sloover Daniel D Pluta John J Emery Lyndsey L Barrett Amanda A Kraya Adam A AA Anastopoulos Ioannis N IN Yu Shun S Jiang Yuchao Y Chen Hao H Zhang Nancy R NR Hackman Nicole N D'Andrea Kurt K Daber Robert R Morrissette Jennifer J D JJD Mitra Nandita N Feldman Michael M Domchek Susan M SM Nathanson Katherine L KL
Nature communications 20170822 1
Complete loss of BRCA1 or BRCA2 function is associated with sensitivity to DNA damaging agents. However, not all BRCA1 and BRCA2 germline mutation-associated tumors respond. Herein we report analyses of 160 BRCA1 and BRCA2 germline mutation-associated breast and ovarian tumors. Retention of the normal BRCA1 or BRCA2 allele (absence of locus-specific loss of heterozygosity (LOH)) is observed in 7% of BRCA1 ovarian, 16% of BRCA2 ovarian, 10% of BRCA1 breast, and 46% of BRCA2 breast tumors. These t ...[more]
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