ArticleFamilial cancer2009
Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population.
Article in Familial cancer, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
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
25 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Prevalence of pathological germline mutations of hMLH1 and hMSH2 genes in colorectal cancer.PloS one · 2013Pooled it
- Papillary Thyroid Carcinoma, Bilateral Macronodular Adrenal Cortical Disease-Related Cortisol Excess, and Femoral Enchondroma: A Novel Phenotype-Genotype Based on Next-Generation Sequencing (Variants ofDiagnostics (Basel, Switzerland) · 2026Article
- Haplotype analysis detects MLH1 founder variant in Indian Lynch syndrome patient cohort.Familial cancer · 2024Article
- Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants.NPJ precision oncology · 2024Article
- Whole exome sequencing identifies MAP3K1, MSH2, and MLH1 as potential cancer-predisposing genes in familial early-onset colorectal cancer.The Kaohsiung journal of medical sciences · 2023Article
- MutL homolog 1 germline mutation c.(453+1_454-1)_(545+1_546-1)del identified in lynch syndrome: A case report and review of literature.World journal of clinical cases · 2022Article
- New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients.Frontiers in genetics · 2020Article
- Novel Genetic Markers for Early Detection of Elevated Breast Cancer Risk in Women.International journal of molecular sciences · 2019Article
- Prevalence and spectrum ofHereditary cancer in clinical practice · 2019Article
- Unsolicited information letters to increase awareness of Lynch syndrome and familial colorectal cancer: reactions and attitudes.Familial cancer · 2019Article
- Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation.Familial cancer · 2018Article
- Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.Molecular genetics & genomic medicine · 2016Article
- A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns.Familial cancer · 2014Article
- Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein.Molecular genetics & genomic medicine · 2014Article
- Lynch Syndrome in high risk Ashkenazi Jews in Israel.Familial cancer · 2014Article
- Mutation spectrum in South American Lynch syndrome families.Hereditary cancer in clinical practice · 2013Article
- Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients.BMC medical genetics · 2013Article
- Splice site mutations in mismatch repair genes and risk of cancer in the general population.Familial cancer · 2013Article
- CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein.Journal of biomedical science · 2013Article
- Novel DNA variants and mutation frequencies of hMLH1 and hMSH2 genes in colorectal cancer in the Northeast China population.PloS one · 2013Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
An increasing number of mismatch-repair (MMR) gene mutations have been identified in hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndrome. This study presents the population-based Danish MMR gene mutation profile, which contains 138 different MMR gene alterations. Among these, 88 mutations in 164 families are considered pathogenic and an additional 50 variants from 76 families are considered to represent variants of unknown pathogenicity. The different MMR genes contribute to 40% (MSH2), 29% (MLH1), and 22% (MSH6) of the mutations and the Danish population thus shows a considerably higher frequency of MSH6 mutations than previously described. Although 69/88 (78%) pathogenic mutations were present in a single family, previously recognized recurrent/founder mutations were causative in 75/137 (55%) MLH1/MSH2 mutant families. In addition, the Danish MLH1 founder mutation c.1667+2_1667_+8TAAATCAdelinsATTT was identified in 14/58 (24%) MLH1 mutant families. The Danish Lynch syndrome population thus demonstrates that MSH6 mutations and recurrent/founder mutations have a larger contribution than previously recognized, which implies that the MSH6 gene should be included in routine diagnostics and suggests that directed analysis of recurrent/founder mutations may be feasible e.g. in families were diagnostic material is restricted to archival tissue.
Indexed as
Identifiers
18566915What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.