Familial Cancer

, Volume 12, Issue 2, pp 313–317 | Cite as

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

  • Heather HampelEmail author
  • Albert de la Chapelle
Original Article


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 [1]. 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 [2] 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...


Lynch Syndrome Sebaceous Carcinoma Lynch Syndrome Patient Population Incidence MSH2 Mutation Carrier 
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This work was supported by grants CA67941 and CA16058 from the United States National Institutes of Health.


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Copyright information

© Springer Science+Business Media Dordrecht 2013

Authors and Affiliations

  1. 1.The Ohio State UniversityColumbusUSA

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