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Prioritizing variants in complete Hereditary Breast and Ovarian Cancer (HBOC) genes in patients lacking known <i>BRCA</i> mutations

2016-02-09

Abstract excerpt

BRCA1 and BRCA2 testing for HBOC does not identify all pathogenic variants. Sequencing of 20 complete genes in HBOC patients with uninformative test results (N=287), including non-coding and flanking sequences of ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, EPCAM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51B, STK11, TP53 , and XRCC2 , identified 38,372 unique variants. We apply information theory (...

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Literature Corpus work
ed32a43e-5769-51f5-ab9f-1c83bf130413
DOI
10.1101/039206
Open publication

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Prioritizing variants in complete Hereditary Breast and Ovarian Cancer (HBOC) genes in patients lacking known <i>BRCA</i> mutationsDOI 10.1101/039206
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