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Lynch syndrome is the most common cause of hereditary colon cancer but is also associated with gastric cancer.1 Interestingly, gastric cancer was a distinguishing feature of the original Lynch pedigree described in 1913.2 Currently, the standardised incidence ratio (SIR) for gastric cancer in Lynch syndrome is estimated to be 3.4.3 Among 255 gene-positive patients with Lynch followed prospectively in our Hereditary Gastrointestinal Cancer programme, 7 (2.7%, 95% CI 1.3% to 5.7%) were diagnosed with gastric cancer at a median age of 55 years. Six carried an MSH2 mutation, five were women and five exhibited underlying chronic immune-mediated gastritis.
Patients with Lynch syndrome, defined by a germline mutation in a DNA mismatch repair gene, were first identified in a REDCap-based Hereditary GI Cancer registry of individuals followed longitudinally at an academic centre, and clinical and endoscopic features were reviewed in those with a new diagnosis of gastric cancer. SIRs were calculated using age and an age-adjusted and gender-adjusted rate from the Surveillance Epidemiology and End Result (SEER) database.4
Among the 255 individuals (102 men and 153 women) identified with Lynch syndrome, the following was the distribution of germline mutations: MSH2 (n=93, 36.5%), MSH6 (n=63, 24.7%), MLH1 (n=58, 22.8%), PMS2 (n=33, 12.9%) and EPCAM (n=8, 3.1%). Overall, there were more than 13 000 person-years of observation, with an average age …
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