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Article

Six case reports of NTHL1-associated tumor syndrome further support it as a multi-tumor predisposition syndrome.

Clinical genetics - 1 Feb 2023

Weatherill Chelsey B, Burke Sarah A, Haskins Carolyn G, Berry Darcy K, Homer Jeanne P, Demeure Michael J, Darabi Sourat

Abstract excerpt

NTHL1-associated tumor syndrome (NATS) is an autosomal recessive condition characterized by an increased risk for colorectal polyposis and colorectal cancer (CRC). Only 46 case reports have been previously published. In a retrospective review, we analyzed the clinical histories of six patients found to have NATS after genetic counseling and testing. NATS appears to be associated with an increased risk for...

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PMID: 36196035
DOI: 10.1111/cge.14242

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