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- Title
BRCA1 and BRCA2 mutations in Japanese patients with ovarian, fallopian tube, and primary peritoneal cancer.
- Authors
Ikuko Sakamoto; Yosuke Hirotsu; Hiroshi Nakagomi; Hidetaka Ouchi; Atsushi Ikegami; Katsuhiro Teramoto; Kenji Amemiya; Hitoshi Mochizuki; Masao Omata; Sakamoto, Ikuko; Hirotsu, Yosuke; Nakagomi, Hiroshi; Ouchi, Hidetaka; Ikegami, Atsushi; Teramoto, Katsuhiro; Amemiya, Kenji; Mochizuki, Hitoshi; Omata, Masao
- Abstract
<bold>Background: </bold>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.<bold>Methods: </bold>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.<bold>Results: </bold>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).<bold>Conclusions: </bold>In this unselected Japanese population, approximately 13% of the cases with ovarian cancer appeared to be associated with an inherited risk, regardless of a family history. This finding indicates that BRCA1/2 genetic testing should be performed for all patients with ovarian cancers.
- Subjects
BRCA genes; GENETIC mutation; JAPANESE people; OVARIAN cancer; FALLOPIAN tubes; PERITONEAL cancer; GENETIC testing; DELETION mutation; CANCER; DISEASES; ASIANS; DISEASE susceptibility; GENEALOGY; FEMALE reproductive organ tumors; GENETIC techniques; OVARIAN tumors; PERITONEUM tumors
- Publication
Cancer (0008543X), 2016, Vol 122, Issue 1, p84
- ISSN
0008-543X
- Publication type
journal article
- DOI
10.1002/cncr.29707