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Article

Japanese nationwide observational multicenter study of tumor BRCA1/2 variant testing in advanced ovarian cancer.

Cancer science - 1 Jan 2023

Oda Katsutoshi, Aoki Daisuke, Tsuda Hitoshi, Nishihara Hiroshi, Aoyama Hisanori, Inomata Hyoe, Shimada Muneaki, Enomoto Takayuki

Abstract excerpt

The association between germline BRCA1 and BRCA2 pathogenic variants (mutations: gBRCAm) and ovarian cancer risk is well established. Germline testing alone cannot detect somatic BRCA1/2 pathogenic variants (sBRCAm), which is calculated based on the proportion of tumor BRCAm (tBRCAm) from tumor samples and gBRCAm. Homologous recombination deficiency (HRD) results mainly from genetic/epigenetic alterations in...

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Identifiers

PMID: 36254756
DOI: 10.1111/cas.15518
PMCID: PMC9807512

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