Nthl1-KO Mouse

NTHL1 is a DNA glycosylase gene involved in the base excision repair pathway, which is crucial for maintaining genomic integrity. By removing base lesions, it helps prevent genomic mutations that could lead to various diseases [1].

Mutations in NTHL1 have been associated with several diseases, especially cancer. Biallelic mutations in NTHL1 predispose individuals to NTHL1-associated polyposis (NAP), a rare tumor syndrome, which increases the risk of colorectal cancer and other malignancies. Homozygous mutations in NTHL1 are also linked to a high risk of breast, urinary tract, and basal-cell skin cancers, suggesting it is a recessive multi-tumour susceptibility gene [1,2,3,4].

In conclusion, NTHL1 plays an essential role in genomic integrity through its function in the base excision repair pathway. Its mutations are significantly associated with an increased risk of multiple cancers, especially colorectal and breast cancers. Understanding NTHL1's function through genetic models can provide insights into the mechanisms of cancer development and potentially guide prevention and surveillance strategies for mutation carriers [1,2,3,4].