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Rare protein truncating variants of NTHL1 gene are causative for the recently described, recessively inherited NTHL1 tumor syndrome that is characterized by an increased lifetime risk for colorectal cancer, colorectal… Click to show full abstract
Rare protein truncating variants of NTHL1 gene are causative for the recently described, recessively inherited NTHL1 tumor syndrome that is characterized by an increased lifetime risk for colorectal cancer, colorectal polyposis, and breast cancer. Although there is strong evidence for breast cancer being a part of the cancer spectrum in these families, the role of pathogenic NTHL1 variants in breast cancer susceptibility in general population remains unclear.
Keywords:
cancer;
role nthl1;
evaluating role;
breast cancer
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2020
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2020
Link to full text (if available)
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recommendations!