How do we approach the goal of identifying everybody with Lynch Syndrome?
- 539 Downloads
Lynch syndrome (LS) is the most common inherited cause of colorectal (CRC) and endometrial cancer. We here define LS as an individual with a germline deleterious mutation in one of the four mismatch repair (MMR) genes MSH2, MLH1, MSH6 and PMS2 or EPCAM . Presently, most people diagnosed with LS have already had colorectal (CRC) endometrial (EC) or other LS-associated cancers; however, among all existing carriers of LS the majority has not (yet) had cancer. LS is currently seriously under-diagnosed. A recent study  of stages III and IV CRC patients in the Kaiser Permanente healthcare system found that family history documentation varied from site to site with 3 sites documenting family history on <70 % of cases and 4 sites documenting family history in over 85 % of cases. Despite the fact that in those with a documented family history, 61 % had a relative with cancer and 20 % of these had CRC in at least one first degree relative, <5 % of the population received any...
KeywordsLynch Syndrome Sebaceous Carcinoma Lynch Syndrome Patient Population Incidence MSH2 Mutation Carrier
This work was supported by grants CA67941 and CA16058 from the United States National Institutes of Health.
- 3.Wilson JMG, Jungner G (1968) Principles and practice of screening for disease. WHO, Geneva. Available from: http://www.who.int/bulletin/volumes/86/4/07-050112BP.pdf
- 13.Pinol V, Castells A, Andreu M, Castellvi-Bel S, Alenda C, Llor X et al (2005) Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. JAMA 293(16):1986–1994PubMedCrossRefGoogle Scholar
- 15.Society AC (2012) Cancer treatment and survivorship facts & figures 2012–2013. Am Cancer Soc, AltantaGoogle Scholar
- 17.Weissman SM, Burt R, Church J, Erdman S, Hampel H, Holter S et al (2012) Identification of individuals at risk for lynch syndrome using targeted evaluations and genetic testing: national Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer joint practice guideline. J Genet Couns 21(4):484–493PubMedCrossRefGoogle Scholar
- 19.NCCN (2012) National Comprehensive cancer network clinical practice guidelines in oncology: colorectal cancer screening; V.2.2012. http://www.nccn.org/professionals/physician_gls/pdf/colorectal_screening.pdf
- 20.Vasen HF, de Vos Tot Nederveen Cappel WH (2006) An evidence-based review on surveillance for Lynch syndrome. Dis Colon Rectum 49(11):1797–1798 (author reply 9)Google Scholar
- 25.Beamer LC, Grant ML, Espenschied CR, Blazer KR, Hampel HL, Weitzel JN et al (2012) Reflex immunohistochemistry and microsatellite instability testing of colorectal tumors for Lynch syndrome among US cancer programs and follow-up of abnormal results. J Clin Oncol 30(10):1058–1063PubMedCrossRefGoogle Scholar