Germline Heterozygous Variants in Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer

Cancer-predisposing genes associated with inherited cancer syndromes help explain mechanisms of sporadic carcinogenesis and often inform normal development. Cowden syndrome (CS) is an autosomal-dominant disorder characterized by high lifetime risks of epithelial cancers, such that ∼50% of affected individuals are wild-type for known cancer-predisposing genes. Using whole-exome and Sanger sequencing of a multi-generation CS family affected by thyroid and other cancers, we identified a pathogenic missense heterozygous SEC23B variant (c.1781T>G [p.Val594Gly]) that segregates with the phenotype.

Source: The American Journal of Human Genetics - October 29, 2015 Category: Genetics & Stem Cells Authors: Lamis Yehia, Farshad Niazi, Ying Ni, Joanne Ngeow, Madhav Sankunny, Zhigang Liu, Wei Wei, Jessica L. Mester, Ruth A. Keri, Bin Zhang, Charis Eng Tags: Article Source Type: research