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Article

Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer.

American journal of human genetics - 5 Nov 2015

Yehia Lamis, Niazi Farshad, Ni Ying, Ngeow Joanne, Sankunny Madhav, Liu Zhigang, Wei Wei, Mester Jessica L, Keri Ruth A, Zhang Bin, Eng Charis

Abstract excerpt

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...

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Identifiers

PMID: 26522472
DOI: 10.1016/j.ajhg.2015.10.001
PMCID: PMC4667132

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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