BRCA1/2 gene mutations may be associated with an inherited risk of ovarian cancer regardless of family history, according to a Japanese population study published in Cancer.1

Ikuko Sakamoto, MD, and fellow researchers at the Yamanashi Prefectural Central Hospital in Kofu, Japan, examined 95 women with ovarian cancer who were treated from 2013 to 2015.

BRCA1/2 gene mutation tests were performed with next-generation sequencing in order to determine a link between germline mutations and hereditary risk. Among those patients, 12 were found to have deleterious mutations, with 5 in the BRCA1 group and 7 in the BRCA2 group.

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In 36 patients who had a family history of the disease, 6 were found to have mutations in BRCA1 and BRCA2. Six of the 59 cases without family history were also found to have BRCA1/2 germline mutations, and there was no statistical difference between the groups.

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The researchers also found that patients with mutations were diagnosed at advanced stages and had poor prognostic histological subtypes.

“This finding indicates that BRCA1/2 genetic testing should be performed for all patients with ovarian cancers,” the authors concluded.


  1. Sakamoto I, Hirotsu Y, Nakagomi H, et al. BRCA1 and BRCA2 mutations in Japanese patients with ovarian, fallopian tube, and primary peritoneal cancer. [published online ahead of print October 6, 2015]. Cancer. doi: 10.1002/cncr.29707.