James M Chan, Mark Clendenning, Sharelle Joseland, Peter Georgeson, Khalid Mahmood, Jihoon E Joo, Romy Walker, Julia Como, Susan Preston, Shuyi Marci Chai, Yen Lin Chu, Aaron L Meyers, Bernard J Pope, David Duggan, J Lynn Fink, Finlay A Macrae, Christophe Rosty, Ingrid M Winship, Mark A Jenkins, Daniel D Buchanan
Genetic susceptibility to familial colorectal cancer (CRC), including for individuals classified as Familial Colorectal Cancer Type X (FCCTX), remains poorly understood. We describe a multi-generation CRC-affected family segregating pathogenic variants in both BRCA1, a gene associated with breast and ovarian cancer and RNF43, a gene associated with Serrated Polyposis Syndrome (SPS). A single family out of 105 families meeting the criteria for FCCTX (Amsterdam I family history criteria with mismatch repair (MMR)-proficient CRCs) recruited to the Australasian Colorectal Cancer Family Registry (ACCFR; 1998-2008) that underwent whole exome sequencing (WES), was selected for further testing...
December 8, 2023: Familial Cancer