Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls

Yukihide Momozawa (), Yusuke Iwasaki, Michael T. Parsons, Yoichiro Kamatani, Atsushi Takahashi, Chieko Tamura, Toyomasa Katagiri, Teruhiko Yoshida, Seigo Nakamura, Kokichi Sugano, Yoshio Miki, Makoto Hirata, Koichi Matsuda, Amanda B. Spurdle and Michiaki Kubo ()
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Yukihide Momozawa: RIKEN Center for Integrative Medical Sciences
Yusuke Iwasaki: RIKEN Center for Integrative Medical Sciences
Michael T. Parsons: QIMR Berghofer Medical Research Institute
Yoichiro Kamatani: RIKEN Center for Integrative Medical Sciences
Atsushi Takahashi: RIKEN Center for Integrative Medical Sciences
Chieko Tamura: FMC Tokyo Clinic
Toyomasa Katagiri: Tokushima University
Teruhiko Yoshida: National Cancer Centre Hospital
Seigo Nakamura: Showa University School of Medicine
Kokichi Sugano: National Cancer Centre Hospital
Yoshio Miki: Medical Research Institute, Tokyo Medical and Dental University
Makoto Hirata: National Cancer Centre Hospital
Koichi Matsuda: The University of Tokyo
Amanda B. Spurdle: QIMR Berghofer Medical Research Institute
Michiaki Kubo: RIKEN Center for Integrative Medical Sciences

Nature Communications, 2018, vol. 9, issue 1, 1-7

Abstract: Abstract Pathogenic variants in highly penetrant genes are useful for the diagnosis, therapy, and surveillance for hereditary breast cancer. Large-scale studies are needed to inform future testing and variant classification processes in Japanese. We performed a case-control association study for variants in coding regions of 11 hereditary breast cancer genes in 7051 unselected breast cancer patients and 11,241 female controls of Japanese ancestry. Here, we identify 244 germline pathogenic variants. Pathogenic variants are found in 5.7% of patients, ranging from 15% in women diagnosed

Date: 2018
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DOI: 10.1038/s41467-018-06581-8

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