Genetic and clinical landscape of breast cancers with germline BRCA1/2 variants.

doi:10.1038/s42003-020-01301-9

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Article

Genetic and clinical landscape of breast cancers with germline BRCA1/2 variants.

Communications biology - 16 Oct 2020

Inagaki-Kawata Yukiko, Yoshida Kenichi, Kawaguchi-Sakita Nobuko, Kawashima Masahiro, Nishimura Tomomi, Senda Noriko, Shiozawa Yusuke, Takeuchi Yasuhide, Inoue Yoshikage, Sato-Otsubo Aiko, Fujii Yoichi, Nannya Yasuhito, Suzuki Eiji, Takada Masahiro, Tanaka Hiroko, Shiraishi Yuichi, Chiba Kenichi, Kataoka Yuki, Torii Masae, Yoshibayashi Hiroshi, Yamagami Kazuhiko, Okamura Ryuji, Moriguchi Yoshio, Kato Hironori, Tsuyuki Shigeru, Yamauchi Akira, Suwa Hirofumi, Inamoto Takashi, Miyano Satoru, Ogawa Seishi, Toi Masakazu

Abstract excerpt

The genetic and clinical characteristics of breast tumors with germline variants, including their association with biallelic inactivation through loss-of-heterozygosity (LOH) and second somatic mutations, remain elusive. We analyzed germline variants of 11 breast cancer susceptibility genes for 1,995 Japanese breast cancer patients, and identified 101 (5.1%) pathogenic variants, including 62 BRCA2 and 15 BRCA1...

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Identifiers

PMID: 33067557
DOI: 10.1038/s42003-020-01301-9
PMCID: PMC7567851

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