Article
Differences in cancer prevalence among CHEK2 carriers identified via multi-gene panel testing.
Cancer genetics - 1 Aug 2020
Sutcliffe Erin G, Stettner Amy R, Miller Stacey A, Solomon Sheila R, Marshall Megan L, Roberts Maegan E, Susswein Lisa R, Arvai Kevin J, Klein Rachel T, Murphy Patricia D, Hruska Kathleen S
Abstract excerpt
PURPOSE: Although CHEK2 is a well-established cancer gene, questions remain including whether risks vary substantially between different variants and whether biallelic carriers have higher risks than heterozygotes. We report on a cohort of individuals with CHEK2 pathogenic and likely pathogenic variants (collectively, PV) in order to better characterize this gene. METHODS: We retrospectively queried samples...
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