Nature Communications (Oct 2018)

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,
  • Michiaki Kubo

DOI
https://doi.org/10.1038/s41467-018-06581-8
Journal volume & issue
Vol. 9, no. 1
pp. 1 – 7

Abstract

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Association between variants in 11 different genes and breast cancer risk has been established and sequencing of these genes is recommended to provide personalized diagnosis, therapy, and surveillance for the high-risk patients and their relatives. Here the authors analyse the frequency of germline pathogenic mutations in these genes specifically in a Japanese population.