Genotype-phenotype correlations in NTHL1-associated tumour syndrome: case report and literature review.

Abstract excerpt

NTHL1-associated tumour syndrome, formerly known as NTHL1-associated polyposis, is a rare autosomal recessive tumour predisposition in which biallelic carriers of pathogenic NTHL1 variants develop multiple, predominantly adenomatous, polyps and have an increased risk of colorectal cancer and extracolonic tumour manifestations. The Nth like DNA glycosylase 1 (NTHL1) gene encodes for an enzyme involved in the base...

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