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

Autor: 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
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Nature Communications, Vol 13, Iss 1, Pp 1-10 (2022)
Druh dokumentu: article
ISSN: 2041-1723
DOI: 10.1038/s41467-022-34109-8
Popis: 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.
Databáze: Directory of Open Access Journals