ArticleGastroenterology2011
High risk of colorectal and endometrial cancer in Ashkenazi families with the MSH2 A636P founder mutation.
Article in Gastroenterology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 13 citations in OpenAlex.
- Hereditary Nonpolyposis Colon Cancer (Lynch Syndrome): An Emerging Public Health Concern.Health science reports · 2025Article
- Clinicopathological features, prognostic factor analysis, and survival nomogram of patients with double primary cancers involving lung cancer.Cancer medicine · 2024Article
- Penetrance of Colorectal Cancer Among Mismatch Repair Gene Mutation Carriers: A Meta-Analysis.JNCI cancer spectrum · 2020Review
- Outcome of genetic evaluation of patients with kidney cancer referred for suspected hereditary cancer syndromes.Urologic oncology · 2016Article
- Genetic testing for Lynch syndrome: family communication and motivation.Familial cancer · 2016Article
- Cancer risks and immunohistochemical profiles linked to the Danish MLH1 Lynch syndrome founder mutation.Familial cancer · 2012Article
- The founder Ashkenazi Jewish mutations in the MSH2 and MSH6 genes in Israeli patients with gastric and pancreatic cancer.Familial cancer · 2012Article
- Anticipation in lynch syndrome: where we are where we go.Current genomics · 2011Article
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Authors and funding
9 authors at 3 institutions in 3 countries.
Funding
Abstract
BACKGROUND &
aimsThe MSH2 A636P mutation is a founder mutation in Ashkenazi Jews that causes Lynch syndrome, with a prevalence of 0.4%-0.7%. Estimates of age-specific cumulative risk and lifetime risk for colorectal cancer (CRC) and endometrial cancer (EC) specific to carriers of this mutation are not available.
methodsWe studied 27 families with MSH2 A636P gene mutations identified in Israel; 13 were identified via a population-based, case-control study and 14 were identified from a clinical genetics service. Age-specific cumulative risks (penetrance) and hazard ratio (HR) estimates of CRC and EC risks were calculated and compared with the general Ashkenazi population using modified segregation analysis. An ascertainment-corrected likelihood that combined population-based and clinic-based sampling provided a powerful analysis for estimating penetrance. We analyzed 74 cases of CRC (40 in the clinic series and 34 in the population-based series), diagnosed at median ages of 50 years (men) and 49 years (women) in the combined sample.
resultsThe cumulative risk of CRC at age 70 was 61.62% for men (95% confidence interval [CI], 37.49%-76.45%) and 61.08% for women (95% CI, 39.39%-75.14%), with overall HRs of 31.8 (19.9-51.0) and 41.8 (27.4-64.0), respectively. There were 28 cases of EC, diagnosed at a median age of 53.0 years. The cumulative risk of EC was 55.64% (95% CI, 33.07%-70.58%) with an overall HR of 66.7 (41.7-106.7).
conclusionsLifetime risks of CRC and EC in MSH2 A636P carriers are high even after adjusting for ascertainment. These estimates are valuable for patients and providers; specialized cancer screening is necessary for carriers of this mutation.
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