NTHL1

ASGE Journal ScanKolon

Monoallelic Variants in Recessive CRC Genes Not Associated With Increased CRC Risk

Monoallelic Variants in Recessive CRC Genes Not Associated With Increased CRC Risk

Increasingly, we are consulted on or asked to perform colonoscopies on patients who previously underwent multigene panel testing for oncogenes associated with colorectal cancer (CRC).

ASGE Journal ScanKolon

Monoallelic NTHL1 Loss of Function Not Associated With Colorectal Cancer

Monoallelic NTHL1 Loss of Function Not Associated With Colorectal Cancer

NTHL1 encodes endonuclease III-like protein 1, an enzyme involved in base-excision repair that identifies and removes oxidized pyrimidines. Biallelic loss-of-function mutations of base-excision repair genes, such