ArticleBritish journal of cancer2012
Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer.
Article in British journal of cancer, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 2 of them syntheses that pooled it.
What it found
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Who cites it
36 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- The prevalence of mismatch repair deficiency in ovarian cancer: A systematic review and meta-analysis.International journal of cancer · 2022Pooled it
- Comparison of universal screening in major lynch-associated tumors: a systematic review of literature.Familial cancer · 2022Pooled it
- Mismatch Repair as a Dynamic and Clinically Actionable Vulnerability in Cancer.Cancer research · 2025Review
- The immunotherapy era in ovarian clear cell carcinoma: current evidence and future perspective.Frontiers in immunology · 2025Review
- Germline Genetic Testing for Hereditary Breast and Ovarian Cancer: Current Concepts in Risk Evaluation.Cold Spring Harbor perspectives in medicine · 2024Review
- A Previously Unrecognized Molecular Landscape of Lynch Syndrome in the Mexican Population.International journal of molecular sciences · 2022Article
- Hereditary Ovarian Cancer: Towards a Cost-Effective Prevention Strategy.International journal of environmental research and public health · 2022Review
- Frequency and clinical features of deficient mismatch repair in ovarian clear cell and endometrioid carcinoma.Journal of gynecologic oncology · 2022Article
- Synonymous Variants: Necessary Nuance in Our Understanding of Cancer Drivers and Treatment Outcomes.Journal of the National Cancer Institute · 2022Review
- Comprehensive epithelial tubo-ovarian cancer risk prediction model incorporating genetic and epidemiological risk factors.Journal of medical genetics · 2022Article
- Epithelial Ovarian Cancer: Providing Evidence of Predisposition Genes.International journal of environmental research and public health · 2022Review
- Mismatch repair deficiency in ovarian cancer.Gynecologic oncology reports · 2022Article
- Article
- Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study.Cancers · 2021Article
- Prevalence of Lynch syndrome in women with mismatch repair-deficient ovarian cancer.Cancer medicine · 2021Article
- How Should We Test for Lynch Syndrome? A Review of Current Guidelines and Future Strategies.Cancers · 2021Review
- Targeted sequencing of genes associated with the mismatch repair pathway in patients with endometrial cancer.PloS one · 2020Article
- Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.Scientific reports · 2019Article
- Current Position of the Molecular Therapeutic Targets for Ovarian Clear Cell Carcinoma: A Literature Review.Healthcare (Basel, Switzerland) · 2019Review
- Serous ovarian carcinoma in patients with Lynch syndrome: Caution is warranted.Gynecologic oncology reports · 2018Article
Corrections and comments
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Authors and funding
15 authors.
Funding
Abstract
backgroundMutations in genes for hereditary non-polyposis colorectal cancer (HNPCC) in ovarian cancer patients remains poorly defined. We sought to estimate the frequency and characteristics of HNPCC gene mutations in a population-based sample of women with epithelial ovarian cancer.
methodsThe analysis included 1893 women with epithelial ovarian cancer ascertained from three population-based studies. Full-germline DNA sequencing of the coding regions was performed on three HNPCC genes, MLH1, MSH2 and MSH6. Collection of demographic, clinical and family history information was attempted in all women.
resultsNine clearly pathogenic mutations were identified, including five in MSH6, two each in MLH1 and MSH2. In addition, 28 unique predicted pathogenic missense variants were identified in 55 patients. Pathogenic mutation carriers had an earlier mean age at diagnosis of ovarian cancer, overrepresentation of cancers with non-serous histologies and a higher number of relatives with HNPCC-related cancers.
conclusionsOur findings suggest that fewer than 1% of women with ovarian cancer harbour a germline mutation in the HNPCC genes, with overrepresentation of MSH6 mutations. This represents a lower-range estimate due to the large number of predicted pathogenic variants in which pathogenicity could not definitively be determined. Identification of mismatch repair gene mutations has the potential to impact screening and treatment decisions in these women.
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