ArticleFamilial cancer2012
Cancer spectrum in DNA mismatch repair gene mutation carriers: results from a hospital based Lynch syndrome registry.
Article in Familial cancer, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Risk of breast cancer in Lynch syndrome: a systematic review.Breast cancer research : BCR · 2013Pooled it
- Incidence of non-colorectal/endometrial malignancies in individuals with Lynch syndrome: a retrospective cohort study.EClinicalMedicine · 2025Article
- Therapeutic targeting of mismatch repair-deficient cancers.Nature reviews. Clinical oncology · 2025Review
- Article
- Uncovering the clinical relevance of unclassified variants in DNA repair genes: a focus onFrontiers in genetics · 2024Article
- Pathogenic Insights into DNA Mismatch Repair (MMR) Genes-Proteins and Microsatellite Instability: Focus on Adrenocortical Carcinoma and Beyond.Diagnostics (Basel, Switzerland) · 2023Review
- Relative Risk of Bladder and Kidney Cancer in Lynch Syndrome: Systematic Review and Meta-Analysis.Cancers · 2023Review
- Mutational spectrum of DNA damage and mismatch repair genes in prostate cancer.Frontiers in genetics · 2023Review
- Lynch syndrome cancer vaccines: A roadmap for the development of precision immunoprevention strategies.Frontiers in oncology · 2023Review
- A RareGenes · 2022Article
- Therapeutic implications of germline vulnerabilities in DNA repair for precision oncology.Cancer treatment reviews · 2022Review
- Morphologic and Genomic Characteristics of Breast Cancers Occurring in Individuals with Lynch Syndrome.Clinical cancer research : an official journal of the American Association for Cancer Research · 2022Article
- A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study.The Lancet. Oncology · 2021Article
- A deep learning approach to identify gene targets of a therapeutic for human splicing disorders.Nature communications · 2021Article
- Co-Occurrence of Familial Non-Medullary Thyroid Cancer (FNMTC) and Hereditary Non-Polyposis Colorectal Cancer (HNPCC) Associated Tumors-A Cohort Study.Frontiers in endocrinology · 2021Article
- Hereditary Predisposition to Prostate Cancer: From Genetics to Clinical Implications.International journal of molecular sciences · 2020Review
- Spectrum and Frequency of Tumors, Cancer Risk and Survival in Chilean Families with Lynch Syndrome: Experience of the Implementation of a Registry.Journal of clinical medicine · 2020Article
- Response to Dominguez-Valentin M et al. 2019: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Article
- MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
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Authors and funding
11 authors.
Funding
Abstract
The spectrum of cancers seen in a hospital based Lynch syndrome registry of mismatch repair gene mutation carriers was examined to determine the distribution of cancers and examine excess cancer risk. Overall there were 504 cancers recorded in 368 mutation carriers from 176 families. These included 236 (46.8 %) colorectal and 268 (53.2 %) extracolonic cancers. MLH1 mutation carriers had a higher frequency of colorectal cancers whereas MSH2, MSH6 and PMS2 mutation carriers had more extracolonic cancers although these differences were not statistically significant. Men had fewer extracolonic cancers than colorectal (45.3 vs. 54.7 %), whereas women had more extracolonic than colorectal cancers (59.0 vs. 41.0 %). The mean age at diagnosis overall for extracolonic cancers was older than for colorectal, 49.1 versus 44.8 years (P ≤ 0.001). As expected, the index cancer was colorectal in 58.1 % of patients and among the extracolonic index cancers, endometrial was the most common (13.8 %). A significant number of non-Lynch syndrome index cancers were recorded including breast (n = 5) prostate (n = 3), thyroid (n = 3), cervix (n = 3), melanoma (n = 3), and 1 case each of thymoma, sinus cavity, and adenocarcinoma of the lung. However, standardized incidence ratios calculated to assess excess cancer risk showed that only those cancers known to be associated with Lynch syndrome were significant in our sample. We found that Lynch syndrome patients can often present with cancers that are not considered part of Lynch syndrome. This has clinical relevance both for diagnosis of Lynch syndrome and surveillance for cancers of different sites during follow-up of these patients.
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