Article
Reversion mutations in germline BRCA1/2-mutant tumors reveal a BRCA-mediated phenotype in non-canonical histologies.
Nature communications - 23 Nov 2022
Murciano-Goroff Yonina R, Schram Alison M, Rosen Ezra Y, Won Helen, Gong Yixiao, Noronha Anne Marie, Janjigian Yelena Y, Stadler Zsofia K, Chang Jason C, Yang Soo-Ryum, Mandelker Diana, Offit Kenneth, Berger Michael F, Donoghue Mark T A, Bandlamudi Chaitanya, Drilon Alexander
Abstract excerpt
The association between loss of BRCA1/2 and a homologous recombination deficiency phenotype is lineage dependent. In BRCA-associated cancers such as breast, ovarian, pancreas and prostate, this phenotype confers sensitivity to PARP inhibitors and platinum-therapies. Somatic reversion mutations restoring BRCA1/2 function mediate resistance, and have exclusively been reported in BRCA-associated tumors. In this...
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