Rare Germline Variants in DNA Repair Genes Detected in BRCA -Negative Finnish Patients with Early-Onset Breast Cancer.
Viivi KurkilahtiVenkat Subramaniam RathinakannanErja NynäsNeha GoelKristiina AittomäkiHeli NevanlinnaVidal FeyMinna Kankuri-TammilehtoJohanna SchleutkerPublished in: Cancers (2024)
Taken together, whole-exome sequencing yielded 72 deleterious variants, including 8 novel variants that may play a pivotal role in the development of early-onset breast cancer. Although more studies are warranted, we demonstrate that young breast cancer patients tend to carry multiple deleterious variants in one or more DNA repair genes.