Nature Communications (Nov 2022)

Reversion mutations in germline BRCA1/2-mutant tumors reveal a BRCA-mediated phenotype in non-canonical histologies

  • Yonina R. Murciano-Goroff,
  • Alison M. Schram,
  • Ezra Y. Rosen,
  • Helen Won,
  • Yixiao Gong,
  • Anne Marie Noronha,
  • Yelena Y. Janjigian,
  • Zsofia K. Stadler,
  • Jason C. Chang,
  • Soo-Ryum Yang,
  • Diana Mandelker,
  • Kenneth Offit,
  • Michael F. Berger,
  • Mark T. A. Donoghue,
  • Chaitanya Bandlamudi,
  • Alexander Drilon

DOI
https://doi.org/10.1038/s41467-022-34109-8
Journal volume & issue
Vol. 13, no. 1
pp. 1 – 10

Abstract

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Mutations in BRCA1/2 are associated with a homologous recombination deficiency phenotype in BRCA-associated cancers. Reversion mutations can restore BRCA1/2 function and result in treatment resistance in these cancer-types. Here, the authors show that, in select cases, reversion mutations in BRCA1/2 can indicate prior BRCA-mediated tumorigenesis in non-canonical histologies.