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Gut 2007;56:1177
Copyright © 2007 BMJ Publishing Group Ltd & British Society of Gastroenterology
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Robin Spiller, Emad El-Omar, Editor and Deputy Editor

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


LIFETIME RISK OF SMALL BOWEL CANCER IN FAMILIES WITH LYNCH SYNDROME
Lynch syndrome (hereditary non-polyposis colorectal cancer; HNPCC) is caused by a germ-line mutation in one of the DNA mismatch repair (MMR) genes. Mutations of the MLH1 and MSH2 genes account for 70–90% of cases. Such patients develop colorectal cancer at an early age and have an excess of extra colonic malignancies, including small bowel cancer with a relative risk >100. Knowing whether to screen such families for this rare condition depends on an accurate knowledge of the absolute risk. In this study, 1496 family members with a MMR mutation from 189 families on the Dutch HNPCC registry were examined. The cumulative risk of developing small bowel cancer in MMR mutation carriers is shown in the figure, with a lifetime risk of 4.2%. The specific MMR mutation did not alter the risk nor did gender. The authors conclude that the annual incidence is too small to justify invasive screening techniques such . . . [Full text of this article]


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