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BRCA 1 and BRCA 2 mutations in J apanese patients with ovarian, fallopian tube, and primary peritoneal cancer
Author(s) -
Sakamoto Ikuko,
Hirotsu Yosuke,
Nakagomi Hiroshi,
Ouchi Hidetaka,
Ikegami Atsushi,
Teramoto Katsuhiro,
Amemiya Kenji,
Mochizuki Hitoshi,
Omata Masao
Publication year - 2016
Publication title -
cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.052
H-Index - 304
eISSN - 1097-0142
pISSN - 0008-543X
DOI - 10.1002/cncr.29707
Subject(s) - ovarian cancer , fallopian tube cancer , medicine , brca mutation , family history , fallopian tube , serous fluid , gynecology , germline mutation , breast cancer , oncology , cancer , genetic testing , population , gastroenterology , mutation , gene , genetics , biology , environmental health
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. Cancer 2016;122:84–90. © 2015 American Cancer Society .