ArticleGastroenterology2015
Mutation spectrum and risk of colorectal cancer in African American families with Lynch syndrome.
Article in Gastroenterology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.
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Who cites it
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 54 citations in OpenAlex.
- [Gender-specific differences in the development of colorectal cancer in Lynch syndrome patients-A systematic review].Chirurgie (Heidelberg, Germany) · 2024Pooled it
- Cumulative risks of colorectal cancer in Han Chinese patients with Lynch syndrome in Taiwan.Scientific reports · 2021Trial
- Emerging trends in the global burden of colorectal cancer.Nature reviews. Clinical oncology · 2026Review
- Lynch syndrome integrative epidemiology and genetics (LINEAGE): rationale for cohort design.Familial cancer · 2026Article
- Adenomas and Beyond: Colonoscopy Surveillance, Racial and Socioeconomic Disparities in Lynch Syndrome.Gastro hep advances · 2026Article
- Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal Cancer.Cancer research communications · 2024Article
- Misclassification of a frequent variant from PMS2CL pseudogene as a PMS2 loss of function variant in Brazilian patients.Familial cancer · 2024Article
- Evaluation of pathogenic variants detected in high homology regions of theFrontiers in oncology · 2024Article
- Rare single-nucleotide variants of MLH1 and MSH2 genes in patients with Lynch syndrome.Cancer reports (Hoboken, N.J.) · 2024Article
- Clinical Multigene Panel Testing Identifies Racial and Ethnic Differences in Germline Pathogenic Variants Among Patients With Early-Onset Colorectal Cancer.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2023Article
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- Racial and Ethnic Disparities in Germline Genetic Testing of Patients With Young-Onset Colorectal Cancer.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2022Article
- Disparities in Surgical Oncology: Management of Advanced Cancer.Annals of surgical oncology · 2021Review
- Disparities in Early-Onset Colorectal Cancer.Cells · 2021Review
- Racial and ethnic disparities in colorectal cancer incidence and mortality.Advances in cancer research · 2021Article
- Patterns of Early-Onset Colorectal Cancer Among Nigerians and African Americans.JCO global oncology · 2020Article
- Penetrance of Colorectal Cancer Among Mismatch Repair Gene Mutation Carriers: A Meta-Analysis.JNCI cancer spectrum · 2020Review
- Causes of Socioeconomic Disparities in Colorectal Cancer and Intervention Framework and Strategies.Gastroenterology · 2020Review
- Lynch Syndrome-Associated Variants and Cancer Rates in an Ancestrally Diverse Biobank.JCO precision oncology · 2020Article
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23 authors at 15 institutions in 2 countries.
Funding
Abstract
BACKGROUND &
aimsAfrican Americans (AAs) have the highest incidence of and mortality resulting from colorectal cancer (CRC) in the United States. Few data are available on genetic and nongenetic risk factors for CRC among AAs. Little is known about cancer risks and mutations in mismatch repair (MMR) genes in AAs with the most common inherited CRC condition, Lynch syndrome. We aimed to characterize phenotype, mutation spectrum, and risk of CRC in AAs with Lynch syndrome.
methodsWe performed a retrospective study of AAs with mutations in MMR genes (MLH1, MSH2, MSH6, and PMS2) using databases from 13 US referral centers. We analyzed data on personal and family histories of cancer. Modified segregation analysis conditioned on ascertainment criteria was used to estimate age- and sex-specific CRC cumulative risk, studying members of the mutation-carrying families.
resultsWe identified 51 AA families with deleterious mutations that disrupt function of the MMR gene product: 31 in MLH1 (61%), 11 in MSH2 (21%), 3 in MSH6 (6%), and 6 in PMS2 (12%); 8 mutations were detected in more than 1 individual, and 11 have not been previously reported. In the 920 members of the 51 families with deleterious mutations, the cumulative risks of CRC at 80 years of age were estimated to be 36.2% (95% confidence interval [CI], 10.5%-83.9%) for men and 29.7% (95% CI, 8.31%-76.1%) for women. CRC risk was significantly higher among individuals with mutations in MLH1 or MSH2 (hazard ratio, 13.9; 95% CI, 3.44-56.5).
conclusionsWe estimate the cumulative risk for CRC in AAs with MMR gene mutations to be similar to that of individuals of European descent with Lynch syndrome. Two-thirds of mutations were found in MLH1, some of which were found in multiple individuals and some that have not been previously reported. Differences in mutation spectrum are likely to reflect the genetic diversity of this population.
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