How do we approach the goal of identifying everybody with Lynch Syndrome?
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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.
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