Furthermore, 13 colorectal tumors from NTHL1 LoF carriers did not show a somatic second hit, and we did not find evidence of a main contribution of mutational signature SBS30, the signature associated with NTHL1 deficiency, suggesting that monoallelic loss of NTHL1 does not substantially contribute to colorectal tumor development. The gene discussed is NTHL1; the disease is colorectal neoplasm.