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Defining HNPCC and Lynch syndrome: what's in a name?
  1. S E Kravochuck,
  2. M F Kalady,
  3. C A Burke,
  4. B Heald,
  5. J M Church
  1. Department of Colorectal Surgery, The Sanford R. Weiss, M.D. Center for Hereditary Colorectal Neoplasia, Cleveland, Ohio, USA
  1. Correspondence to Dr James Church, Desk A-30, 9500 Euclid Ave, Cleveland, Ohio 44195, USA; churchj{at}ccf.org

https://doi.org/10.1136/gutjnl-2014-307344

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    Dear Sir,

    In June 2013, the Mallorca Group published revised guidelines for the clinical management of Lynch syndrome.1 In the title, HNPCC (Hereditary NonPolyposis Colorectal Cancer) is equated with Lynch syndrome, continuing a misuse of terms that has fuelled confusion for many years. The two terms describe different, although overlapping, diseases: the distinction is critical to an accurate understanding of hereditary colorectal cancer.

    HNPCC is defined clinically, usually as families satisfying Amsterdam I or II criteria.2 Lynch syndrome is defined genetically, by the presence of a germline mutation in DNA mismatch repair (MMR) or EPCAM genes.3 Not all HNPCC families have Lynch syndrome and not all Lynch syndrome families have HNPCC. To determine the extent of the misuse of terms, we searched PubMed and Medline databases in …

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    Footnotes

    • Contributors Contributorship statement: JM and SEK initiated the study concept and design and drafted the manuscript. MFK and CAB, and BL, reviewed and contributed to the study concept, design and manuscript. All authors approved the final version of the manuscript.

    • Competing interests None.

    • Provenance and peer review Not commissioned; externally peer reviewed.