Family history and BRCA1/BRCA2 status among Japanese ovarian cancer patients and occult cancer in a BRCA1 mutant case

• Published in: Japanese journal of clinical oncology 2014-01, Vol.44 (1), p.49-56
• Main Authors: Hirasawa, Akira, Masuda, Kenta, Akahane, Tomoko, Ueki, Arisa, Yokota, Megumi, Tsuruta, Tomohiko, Nomura, Hiroyuki, Kataoka, Fumio, Tominaga, Eiichiro, Banno, Kouji, Makita, Kazuya, Susumu, Nobuyuki, Sugano, Kokichi, Kosaki, Kenjiro, Kameyama, Kaori, Aoki, Daisuke
• Format: Article
• Language: English
• Subjects: Adult; Aged; Asian Continental Ancestry Group - genetics; BRCA1 Protein - genetics; BRCA2 Protein - genetics; Breast Neoplasms - congenital; Breast Neoplasms - genetics; Cross-Sectional Studies; Female; Gene Silencing; Genetic Predisposition to Disease; Heterozygote; Humans; Japan - epidemiology; Middle Aged; Mutation; Neoplasms, Unknown Primary - genetics; Ovarian Neoplasms - epidemiology; Ovarian Neoplasms - genetics; Ovarian Neoplasms - pathology; Ovarian Neoplasms - surgery; Ovariectomy; Retrospective Studies; Risk; Salpingectomy; Tumor Suppressor Protein p53 - genetics
• ISSN: 0368-2811; 1465-3621
• DOI: 10.1093/jjco/hyt171

This study aimed to examine family history among Japanese ovarian cancer patients and to investigate the TP53 status of fallopian tube epithelial and ovarian cancer cells in a Japanese BRCA1 mutant case that may be associated with the transformed state in hereditary ovarian cancer. One hundred and two primary ovarian cancer patients were retrospectively evaluated in this cross-sectional study. The family history of cancer was determined in probands. In a BRCA1 mutant case, p53 immunostaining and direct sequencing, followed by laser-capture microdissection, were performed for the fallopian tube, considered the origin of ovarian cancer. Nine of 102 (8.8%) families were regarded as having hereditary breast-ovarian cancer syndrome, two families (2.0%) were diagnosed with Lynch syndrome and six patients harbored BRCA1 or BRCA2 mutations. One case underwent risk-reductive salpingo-oophorectomy as a BRCA1 mutant carrier was retrospectively diagnosed as occult cancer. Common TP53 mutations were detected in cancer and fallopian tube epithelial cells in the case. Here, we integrate family cancer history and histology in ovarian cancer cases as well as TP53 status in a BRCA1 mutant case into a discussion regarding carcinogenesis in a Japanese population. The TP53 status for the BRCA1 mutant case examined here supports the recently proposed theory that ovarian cancer develops because of BRCA1 or BRCA2 inactivation and/or TP53 mutations.