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تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
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Lifetime cancer risk related to Lynch genotypes

Lifetime cancer risk related to Lynch genotypes
Cancer site MLH1 MSH2Δ MSH6 PMS2
Female Male Both Female Male Both Female Male Both Female Male Both
Any Lynch cancer 71 to 81% 71 to 72% 71 to 90% 61 to 84% 52 to 75% 52 to 84% 62 to 65% 41 to 47% 58 to 73% – – 34 to 52%
Colorectal 35 to 57% 39 to 78% 35 to 90% 26 to 68% 31 to 63% 52 to 84% 20 to 30% 12 to 69% 18 to 58% 12 to 15% 13 to 20% 12 to 52%
Endometrial 20 to 57% – – 21 to 71% – – 17 to 71% – – 13 to 15% – –
Gastric 3 to 15% 6 to 37% Up to 37% 13 to 19% 5 to 20% Up to 20% 1 to 4% 1 to 8% Up to 8% – – Unknown*
Ovarian 8 to 20% – – 12 to 38% – – 1 to 11% – – 3 to 5% – –
Ureter/kidney 2 to 5% 4 to 5% Up to 5% 6 to 19% 6 to 18% Up to 19% 1 to 5% 1 to 2% Up to 5% – – Up to 4%
Bladder 1 to 5% 4 to 11% Up to 11% 3 to 8% 4 to 13% Up to 13% 1 to 2% 1 to 8% Up to 8% – – Unknown*
Prostate 9 to 14% 24 to 30% 9 to 30% Up to 5%
Breast Up to 19% Up to 16% Up to 14% Up to 15%
Brain Up to 2% Up to 8% Up to 4% –
Small bowel Up to 4% Up to 8% Up to 4% Unknown*
Pancreatobiliary Up to 5% Up to 5% Unknown* Unknown*
Skin Up to 4% Up to 10% Up to 4% Unknown*
* Data are insufficient to make a determination.
¶ There is ongoing debate as to whether breast cancer is a Lynch syndrome associated cancer.
Δ Cancer risks in individuals with a pathogenic EPCAM variant are similar to those with a pathogenic MSH2 variant.
Data from:
  1. Bonadona V, Bonaïti B, Olschwang S, et al. Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. JAMA 2011; 305:2304.
  2. Dowty JG, Win AK, Buchanan DD, et al. Cancer risks for MLH1 and MSH2 mutation carriers. Hum Mutat 2013; 34:490.
  3. Watson P, Vasen HF, Mecklin JP, et al. The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome. Int J Cancer 2008; 123:444.
  4. Joost P, Therkildsen C, Dominguez-Valentin M, et al. Urinary Tract Cancer in Lynch Syndrome; Increased Risk in Carriers of MSH2 Mutations. Urology 2015; 86:1212.
  5. van der Post RS, Kiemeney LA, Ligtenberg MJ, et al. Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers. J Med Genet 2010; 47:464.
  6. Dominguez-Valentin M, Sampson JR, Seppälä TT, et al. Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database. Genet Med 2020; 22:15.
  7. Senter L, Clendenning M, Sotamaa K, et al. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology 2008; 135:419.
  8. Ten Broeke SW, van der Klift HM, Tops CMJ, et al. Cancer Risks for PMS2-Associated Lynch Syndrome. J Clin Oncol 2018; 36:2961.
  9. Ryan NAJ, Morris J, Green K, et al. Association of Mismatch Repair Mutation With Age at Cancer Onset in Lynch Syndrome: Implications for Stratified Surveillance Strategies. JAMA Oncol 2017; 3:1702.
  10. Baglietto L, Lindor NM, Dowty JG, et al. Risks of Lynch syndrome cancers for MSH6 mutation carriers. J Natl Cancer Inst 2010; 102:193.
  11. Choi YH, Cotterchio M, McKeown-Eyssen G, et al. Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario. Hered Cancer Clin Pract 2009; 7:14.
  12. Capelle LG, Van Grieken NC, Lingsma HF, et al. Risk and epidemiological time trends of gastric cancer in Lynch syndrome carriers in the Netherlands. Gastroenterology 2010; 138:487.
  13. Engel C, Loeffler M, Steinke V, et al. Risks of less common cancers in proven mutation carriers with lynch syndrome. J Clin Oncol 2012; 30:4409.
  14. Ramsoekh D, Wagner A, van Leerdam ME, et al. Cancer risk in MLH1, MSH2 and MSH6 mutation carriers; different risk profiles may influence clinical management. Hered Cancer Clin Pract 2009; 7:17.
  15. Harkness EF, Barrow E, Newton K, et al. Lynch syndrome caused by MLH1 mutations is associated with an increased risk of breast cancer: A cohort study. J Med Genet 2015; 52:553.
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