Nature Communications (May 2020)

High-throughput functional evaluation of BRCA2 variants of unknown significance

  • Masachika Ikegami,
  • Shinji Kohsaka,
  • Toshihide Ueno,
  • Yukihide Momozawa,
  • Satoshi Inoue,
  • Kenji Tamura,
  • Akihiko Shimomura,
  • Noriko Hosoya,
  • Hiroshi Kobayashi,
  • Sakae Tanaka,
  • Hiroyuki Mano

DOI
https://doi.org/10.1038/s41467-020-16141-8
Journal volume & issue
Vol. 11, no. 1
pp. 1 – 13

Abstract

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Many germline variants are found in the BRCA2 gene, some of which pre-dispose women to breast and ovarian cancer. Here, the authors develop a method to determine the functional significance of BRCA2 variants and show that it is comparable to the IARC system of classifying variants.