title: BRCA1 and BRCA2 mutations in Japanese patients with ovarian, fallopian tube, and primary peritoneal cancer.
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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Obstetrics and Gynecology, Yamanashi Prefectural Central Hospital, Kofu, Japan.
authors.forename: Ikuko
authors.initials: I
authors.lastname: Sakamoto
authors.affiliation: Department of Genome Analysis Center, Yamanashi Prefectural Central Hospital, Kofu, Japan.
authors.forename: Yosuke
authors.initials: Y
authors.lastname: Hirotsu
authors.affiliation: Department of Breast Surgery, Yamanashi Prefectural Central Hospital, Kofu, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Nakagomi
authors.affiliation: Department of Obstetrics and Gynecology, Yamanashi Prefectural Central Hospital, Kofu, Japan.
authors.forename: Hidetaka
authors.initials: H
authors.lastname: Ouchi
authors.affiliation: Department of Obstetrics and Gynecology, Yamanashi Prefectural Central Hospital, Kofu, Japan.
authors.forename: Atsushi
authors.initials: A
authors.lastname: Ikegami
authors.affiliation: Department of Obstetrics and Gynecology, Yamanashi Prefectural Central Hospital, Kofu, Japan.
authors.forename: Katsuhiro
authors.initials: K
authors.lastname: Teramoto
authors.affiliation: Department of Genome Analysis Center, Yamanashi Prefectural Central Hospital, Kofu, Japan.
authors.forename: Kenji
authors.initials: K
authors.lastname: Amemiya
authors.affiliation: Department of Genome Analysis Center, Yamanashi Prefectural Central Hospital, Kofu, Japan.
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Mochizuki
authors.affiliation: Department of Genome Analysis Center, Yamanashi Prefectural Central Hospital, Kofu, Japan.|Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
authors.forename: Masao
authors.initials: M
authors.lastname: Omata
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D005185:Fallopian Tube Neoplasms / Q000235:genetics* / Q000473:pathology; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D008875:Middle Aged; D010051:Ovarian Neoplasms / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010534:Peritoneal Neoplasms / Q000235:genetics* / Q000473:pathology
keywords: BRCA1; BRCA2; Japanese; genetic testing; ovarian cancer