Benign Tumors Associated With Heterozygous NTHL1 Variant

Abstract

NTHL1 is a tumor suppressor gene involved in base excision repair. It is associated with an increased risk for colorectal and breast cancer when two variant gene copies are inherited. However, inheriting one variant NTHL1 copy is not associated with increased tumor risk. Genetic counselors report heterozygous NTHL1 mutations as benign. We present the case of a 22-year-old patient with a heterozygous NTHL1 variant who developed an arm schwannoma, spinal schwannoma, and hepatic hemangioma. The patient also reported feeling multiple other bumps on his body but did not seek medical care due to a lack of symptoms. This case suggests that heterozygous NTHL1 variants may be implicated in tumor development.

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