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Case Reports
. 2023 Feb;103(2):231-235.
doi: 10.1111/cge.14242. Epub 2022 Oct 17.

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

Chelsey B Weatherill  1 , Sarah A Burke  2 , Carolyn G Haskins  2 , Darcy K Berry  2 , Jeanne P Homer  1 , Michael J Demeure  1   3 , Sourat Darabi  1
Affiliations
Case Reports

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

Chelsey B Weatherill et al. Clin Genet. 2023 Feb.

Abstract

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 colorectal polyposis, CRC, female breast cancer, meningiomas, and endometrial cancer. Although research is limited, prior publications have reported a multi-tumor predisposition for individuals with biallelic pathogenic or likely pathogenic variants in NTHL1. Additional data are necessary to further define the cancer risks so affected individuals can be appropriately managed.

Keywords: NTHL1; NTHL1-associated tumor syndrome; breast cancer; cancer genetics; colorectal cancer; genetic predisposition; hereditary; meningioma; polyposis.

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