Lynch syndrome: Its phenotypic and genotypic heterogeneity

Henry T. Lynch, Jane F. Lynch, Zoran Gatalica, C. Richard Boland

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


It is estimated that approximately 3-5% of all colorectal cancers may manifest the Lynch syndrome while its familial adenomatous polyposis counterpart accounts for less than 1% of the total colorectal cancer burden. Familial aggregation constitutes approximately 20% of all colorectal cancer occurrences. What does this mean to the geneticist, diagnostician, and ultimately the high-risk patient? Clearly, family history is the key, and when germline pathogenic mutations are identified within a family, one is then in the enviable position of providing a significant reduction in patients' cancer morbidity and mortality through highly-targeted screening and management. Confounders for each high-risk family will be the syndrome's phenotypic and genotypic heterogeneity, and therein it will be best comprehended through study of its natural history. In some cases the syndrome's complexity may be beyond the physician's knowledge, and help will then be available through referral to genetic counselors or centers of cancer genetics expertise. Finally, basic science and clinical studies on high-risk families harbor enormous opportunities to uncover etiology and pathogenesis which may ultimately translate into cancer prevention in both hereditary and sporadic forms of cancer.

Original languageEnglish (US)
Pages (from-to)266-273
Number of pages8
JournalViszeralmedizin: Gastrointestinal Medicine and Surgery
Issue number4
StatePublished - Aug 1 2011

All Science Journal Classification (ASJC) codes

  • Surgery
  • Gastroenterology


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