Article
Variant Identification in BARD1, PRDM9, RCC1, and RECQL in Patients with Ovarian Cancer by Targeted Next-generation Sequencing of DNA Pools.
Cancer prevention research (Philadelphia, Pa.) - 1 Mar 2022
Suszynska Malwina, Ratajska Magdalena, Galka-Marciniak Paulina, Ryszkowska Aleksandra, Wydra Dariusz, Debniak Jaroslaw, Jasiak Anna, Wasag Bartosz, Cybulski Cezary, Kozlowski Piotr
Abstract excerpt
Several ovarian cancer susceptibility genes have been discovered, but more are likely to exist. In this study, we aimed to analyze knowledge-based selected genes, that is, BARD1, PRDM9, RCC1, and RECQL, in which pathogenic germline variants have been reported in patients with breast and/or ovarian cancer. As deep sequencing of DNA samples remains costly, targeted next-generation sequencing of DNA pools was...
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