Monoallelic NTHL1 p.(Gln90*) and cancer risk: evidence from a large Turkish cohort.

Abstract excerpt

Biallelic loss-of-function variants in NTHL1 are associated with an autosomal recessive cancer predisposition syndrome, whereas the cancer risk associated with monoallelic NTHL1 variants remains uncertain. The recurrent truncating variant p.(Gln90*), the first described and most frequently observed pathogenic NTHL1 variant, is commonly detected in the monoallelic state in population databases and diagnostic...

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