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

Author

Listed:
  • 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
    National Cerebral and Cardiovascular Center)

  • 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
    Tochigi Cancer Centre Research Institute)

  • Yoshio Miki

    (Medical Research Institute, Tokyo Medical and Dental University)

  • Makoto Hirata

    (National Cancer Centre Hospital
    The University of Tokyo)

  • Koichi Matsuda

    (The University of Tokyo)

  • Amanda B. Spurdle

    (QIMR Berghofer Medical Research Institute)

  • Michiaki Kubo

    (RIKEN Center for Integrative Medical Sciences)

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

Suggested Citation

  • Yukihide Momozawa & Yusuke Iwasaki & Michael T. Parsons & Yoichiro Kamatani & Atsushi Takahashi & Chieko Tamura & Toyomasa Katagiri & Teruhiko Yoshida & Seigo Nakamura & Kokichi Sugano & Yoshio Miki &, 2018. "Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls," Nature Communications, Nature, vol. 9(1), pages 1-7, December.
    • Handle: RePEc:nat:natcom:v:9:y:2018:i:1:d:10.1038_s41467-018-06581-8
    DOI: 10.1038/s41467-018-06581-8
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