Lynch Syndrome
Which Cancers Are Associated with Lynch Syndrome?
Lynch Syndrome is particularly associated with a significantly increased risk of colorectal cancer and, for women, endometrial cancer – a type of cancer that begins in the womb / uterus.
Lynch Syndrome accounts for 2% to 4% of all colorectal cancer cases and approximately 2.5% of all endometrial cancer cases.4
It is also associated with an increased risk for several other cancers including gastric, ovarian, urinary tract, small bowel, bile duct and brain (glioblastoma).
The approximate risk of developing each of these different types of cancer for people with Lynch Syndrome can be found below.
| Cancer type | Lifetime risk for person with Lynch Syndrome5, 6 |
|---|---|
| Colorectal | 30-73% |
| Endometrial / uterine | 30-51% |
| Gastric / stomach | Up to 18% |
| Ovarian | 4-15% |
| Bile duct | 2-7% |
| Urinary tract | 2-20% |
| Pancreatic | 4% |
| Small bowel | 3-5% |
| Brain (glioblastoma) | 1-3% |
Which Genes Have The Highest Risk?
People with mutations in either the MLH1 or MSH2 genes have a substantially higher risk of developing colorectal cancer at a younger age compared to those with mutations in the MSH6 or PMS2 genes.5
The risk of developing endometrial (in women) and urinary tract cancers is also higher in those with mutations in the MSH2 gene.5
Data on cancer risk estimates for those with mutations in the EPCAM gene is limited.
At What Age Could Cancer Develop?
People with Lynch Syndrome tend to develop cancer at a younger age than average, often before the age of 50.2
The average age at diagnosis of colorectal cancer in affected patients with Lynch Syndrome is 44 to 61 years, while for endometrial cancer average age at diagnosis is 48 to 62 years.2
2. CDC. Lynch Syndrome. Available from: https://www.cdc.gov/genomics/disease/colorectal_cancer/lynch.htm
3. Dashti SG, Win AK, Hardikar SS, Glombicki SE, Mallenahalli S, Thirumurthi S, Peterson SK, You YN, Buchanan DD, Figueiredo JC, Campbell PT, Gallinger S, Newcomb PA, Potter JD, Lindor NM, Le Marchand L, Haile RW, Hopper JL, Jenkins MA, Basen-Engquist KM, Lynch PM, Pande M. Physical activity and the risk of colorectal cancer in Lynch Syndrome. Int J Cancer. 2018 Nov 1;143(9):2250-2260. doi: 10.1002/ijc.31611. Epub 2018 Aug 7. PMID: 29904935; PMCID: PMC6195467.
4. Bhattacharya P, McHugh TW. Lynch Syndrome. [Updated 2022 Jul 18]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK431096/
5. Stjepanovic N, Moreira L, Carneiro F, et al. ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann Oncol (2019); 00: 1–34.
6. Jasperson KW, Tuohy TM, Neklason DW, Burt RW. Hereditary and familial colon cancer. Gastroenterology. 2010 Jun;138(6):2044-58. doi: 10.1053/j.gastro.2010.01.054. PMID: 20420945; PMCID: PMC3057468.
