Article
Identification of BRCA1/2 mutation female carriers using circulating microRNA profiles.
Nature communications - 8 Jun 2023
Elias Kevin, Smyczynska Urszula, Stawiski Konrad, Nowicka Zuzanna, Webber James, Kaplan Jakub, Landen Charles, Lubinski Jan, Mukhopadhyay Asima, Chakraborty Dona, Connolly Denise C, Symecko Heather, Domchek Susan M, Garber Judy E, Konstantinopoulos Panagiotis, Fendler Wojciech, Chowdhury Dipanjan
Abstract excerpt
Identifying germline BRCA1/2 mutation carriers is vital for reducing their risk of breast and ovarian cancer. To derive a serum miRNA-based diagnostic test we used samples from 653 healthy women from six international cohorts, including 350 (53.6%) with BRCA1/2 mutations and 303 (46.4%) BRCA1/2 wild-type. All individuals were cancer-free before and at least 12 months after sampling. RNA-sequencing followed by...
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