COMMENTARY

Diagnosing Lynch Syndrome

Diagnosing Lynch syndrome: is the answer in the mouth?

H K Roy¹, H T Lynch²

¹ Section of Gastroenterology, Evanston-Northwestern Healthcare Research Institute, Feinberg School of Medicine at Northwestern University, Evanston IL 60035, USA
² Department of Preventive Medicine and Public Health, Creighton University School of Medicine, Omaha, Nebraska, USA

Correspondence to:
Correspondence to:
Professor H T Lynch
Department of Preventive Medicine and Public Health, Creighton University School of Medicine, Omaha, Nebraska, USA; htlynch@creighton.edu

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Alterations in vascular patterns in the buccal/subgingival mucosa may provide the basis for a non-invasive inexpensive test for recognising hereditary non-polyposis colorectal cancer

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Keywords: colorectal neoplasms; hereditary non-polyposis/diagnosis; blood vessels; population surveillance; colorectal cancer

The first 150 words of the full text of this article appear below.

Risk stratification is essential for designing efficacious and cost effective colon cancer screening programmes. One of the most important risk factors for colorectal cancers (CRC) is an inherited predisposition, implicated in 20% of all cases.¹ The spectrum of genetic susceptibility ranges from the low penetrance mutations that modestly increase the colon cancer risk (for example, I 1307K) to the much more dramatic phenotypes (for example, multiple colonic adenomas in familial adenomatous polyposis) that engender an extraordinarily high risk of cancer.² Lynch syndrome or hereditary non-polyposis colorectal cancer (HNPCC) is a case in point. This autosomal dominant condition results from a germline mutation in a DNA mismatch repair (MMR) gene (most commonly hMLH1, hMSH2, and hMSH6 with the rare occurrence in hMLH3, PMS1, and PMS2).³ Clinically, Lynch syndrome, the most common hereditary disorder predisposing to CRC, is characterised by a greater than 80% . . . [Full text of this article]

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