Prevalence of <em>BRCA1</em> and <em>BRCA2</em> mutations in Japanese patients with triple‑negative breast cancer: A single institute retrospective study

Fujisawa,Fumie; Tamaki,Yasuhiro; Inoue,Tazuko; Nakayama,Takahiro; Yagi,Toshinari; Kittaka,Nobuyoshi; Yoshinami,Tetsuhiro; Nishio,Minako; Matsui,Saki; Kusama,Hiroki; Kamiura,Shoji

doi:10.3892/mco.2021.2258

Prevalence of BRCA1 and BRCA2 mutations in Japanese patients with triple‑negative breast cancer: A single institute retrospective study

Authors:
- Fumie Fujisawa
- Yasuhiro Tamaki
- Tazuko Inoue
- Takahiro Nakayama
- Toshinari Yagi
- Nobuyoshi Kittaka
- Tetsuhiro Yoshinami
- Minako Nishio
- Saki Matsui
- Hiroki Kusama
- Shoji Kamiura
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Affiliations: Department of Medical Oncology, Osaka International Cancer Institute, Chuo‑ku, Osaka 541‑8567, Japan, Division of Familial Cancer Clinic, Department of Genetic Medicine, Osaka International Cancer Institute, Chuo‑ku, Osaka 541‑8567, Japan, Department of Breast and Endocrine Surgery, Osaka International Cancer Institute, Chuo‑ku, Osaka 541‑8567, Japan, Department of Gynecology, Osaka International Cancer Institute, Chuo‑ku, Osaka 541‑8567, Japan
Published online on: March 12, 2021 https://doi.org/10.3892/mco.2021.2258
Article Number: 96
Copyright: © Fujisawa et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Numerous databases for risk assessment of BRCA1/2 gene mutations contain insufficient data about Asians. Furthermore, few studies have reported the prevalence of germline BRCA1/2 mutations in Japanese patients, particularly those with triple‑negative breast cancer (TNBC). The present study was a retrospective analysis of data from patients with TNBC who underwent BRCA1/2 mutation testing at Osaka International Cancer Institute (Osaka, Japan) between October 2014 and March 2020. A total of 65 patients with TNBC underwent a test for BRCA1/2 mutations, and 13 (20.0%) had deleterious mutations in the BRCA1 or BRCA2 genes. Furthermore, 12 out of 29 patients with a family history of breast or ovarian cancer had deleterious BRCA1/2 mutations, and only 1 of 34 without a family history had a mutation (41.4 vs. 2.9%; P=0.014). No patients aged >60 years had BRCA1/2 mutations; however, the age of diagnosis was not a significant risk factor for BRCA1/2 mutations (P=0.60). The prevalence of BRCA1/2 mutations in the present cohort of Japanese patients with TNBC was slightly higher than those reported in other larger studies from Europe and North America. Further data from large prospective studies are required to more precisely define the prevalence of BRCA1/2 mutations.

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