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abstract
BACKGROUND
The contribution of BRCA1 and BRCA2 to ovarian cancer in Japanese patients is still unclear. This study investigated the frequency of germline mutations in BRCA1/2
in Japanese patients with ovarian, peritoneal, or fallopian tube
cancer, regardless of their family histories, which were suggestive of
hereditary breast and ovarian cancer.
METHODS
Ninety-five
unselected women with ovarian cancer who were seen from 2013 to 2015 at
Yamanashi Prefectural Central Hospital were enrolled. Analyses of BRCA1/2 gene mutations were performed with next-generation sequencing.
RESULTS
Twelve of the 95 patients (12.6%), including 5 in the BRCA1 (5.3%) and 7 in the BRCA2 (7.4%), had deleterious mutations. Among the 36 cases with a family history, 6 (16.7%) were found to carry mutations in BRCA1 and BRCA2. Notably, 6 of the 59 cases (10.2%) without a family history also had BRCA1/2 germline mutations. There was no statistical difference between the 2 groups (P
= .36). The presence of mutations and their clinical relevance were
studied. Mutation carriers were diagnosed at advanced stages (100% of
positive cases among stage III or IV cases) and had poor prognostic
histological subtypes (100% of positive cases had high-grade serous
adenocarcinomas).
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