Article
Evidence for GALNT12 as a moderate penetrance gene for colorectal cancer.
Human mutation - 1 Aug 2018
Evans Daniel R, Venkitachalam Srividya, Revoredo Leslie, Dohey Amanda T, Clarke Erica, Pennell Julia J, Powell Amy E, Quinn Erina, Ravi Lakshmeswari, Gerken Thomas A, Green Jane S, Woods Michael O, Guda Kishore
Abstract excerpt
Characterizing moderate penetrance susceptibility genes is an emerging frontier in colorectal cancer (CRC) research. GALNT12 is a strong candidate CRC-susceptibility gene given previous linkage and association studies, and inactivating somatic and germline alleles in CRC patients. Previously, we found rare segregating germline GALNT12 variants in a clinic-based cohort (N = 118) with predisposition for CRC. Here,...
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