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• W2414978023 abstract "Hereditary breast cancer comprises a minor but clinically meaningful breast cancer (BC) subgroup. Mutations in the major BC-susceptibility genes are important prognostic and predictive markers; however, their carriers represent only 25% of high-risk BC patients. To further characterize variants influencing BC risk, we performed SOLiD sequencing of 581 genes in 325 BC patients (negatively tested in previous BRCA1/BRCA2/PALB2 analyses). In 105 (32%) patients, we identified and confirmed 127 truncating variants (89 unique; nonsense, frameshift indels, and splice site), 19 patients harbored more than one truncation. Forty-six (36 unique) truncating variants in 25 DNA repair genes were found in 41 (12%) patients, including 16 variants in the Fanconi anemia (FA) genes. The most frequent variant in FA genes was c.1096_1099dupATTA in FANCL that also show a borderline association with increased BC risk in subsequent analysis of enlarged groups of BC patients and controls. Another 81 (53 unique) truncating variants were identified in 48 non-DNA repair genes in 74 patients (23%) including 16 patients carrying variants in genes coding proteins of estrogen metabolism/signaling. Our results highlight the importance of mutations in the FA genes' family, and indicate that estrogen metabolism genes may reveal a novel candidate genetic component for BC susceptibility." @default.
• W2414978023 created "2016-06-24" @default.
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• W2414978023 date "2016-03-04" @default.
• W2414978023 modified "2023-10-18" @default.
• W2414978023 title "Hereditary truncating mutations of <scp>DNA</scp> repair and other genes in <i><scp>BRCA1</scp></i>/<i><scp>BRCA2</scp></i>/<i><scp>PALB2</scp></i>‐negatively tested breast cancer patients" @default.
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• W2414978023 doi "https://doi.org/10.1111/cge.12748" @default.
• W2414978023 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26822949" @default.
• W2414978023 hasPublicationYear "2016" @default.
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