Hereditary nonpolyposis colorectal cancer risk factors
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Overview
The most potent risk factor in the development of hereditary nonpolyposis colorectal cancer is gene mutations caused by defective DNA mismatch repair.[1]
Risk Factors
Gene Mutations
- The 4 main MMR genes associated with high risk of developing Lynch syndrome are MLH1, MSH2, MSH6, and PMS2.
- Most mutations (90%) that cause Lynch syndrome are found in the MLH1 or MSH2 genes.
- MSH6 and PMS2 account for the other 10% of mutations.[2]
- Individuals with hereditary nonpolyposis colorectal cancer have about an 80% life time risk for colon cancer.
- Women with hereditary nonpolyposis colorectal cancer have an 80% life time risk of endometrial cancer.
- Among females with hereditary nonpolyposis colorectal cancer who have both colon and endometrial cancer, about half present first with endometrial cancer, making endometrial cancer the most common sentinel cancer in Lynch syndrome.
References
- ↑ Si JW, Wang L, Ba XJ, Zhang X, Dong Y, Zhang JX, Li WT, Li T (2015). "[Clinicopathological screening of Lynch syndrome: a report of 2 cases and literature review]". Beijing Da Xue Xue Bao (in Chinese). 47 (5): 858–64. PMID 26474631.
- ↑ Lynch Syndrome. Canadian Cancer Society http://www.cancer.ca/en/cancer-information/cancer-101/what-is-a-risk-factor/genetic-risk/lynch-syndrome/?region=ab#ixzz3t69IQ9M7 Accessed on December 01 2015