ArticleAmerican journal of human genetics1996
Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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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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Who cites it
37 citing papers in PubMed, 97 citations in OpenAlex.
- Population frequency of Predicted pathogenic MisMatch Repair (MMR) gene variants in Lynch syndrome from bioinformatic analyses of the general population.Scientific reports · 2025Article
- Lost opportunities for mismatch repair (MMR) screening among minority women with endometrial cancer.Scientific reports · 2021Article
- Article
- A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.BMC cancer · 2017Article
- Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.Nature communications · 2017Article
- Update on Lynch syndrome genomics.Familial cancer · 2016Review
- 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
- Lynch Syndrome in high risk Ashkenazi Jews in Israel.Familial cancer · 2014Article
- Recurrent and founder mutations in the PMS2 gene.Clinical genetics · 2013Article
- Cancer risks and immunohistochemical profiles linked to the Danish MLH1 Lynch syndrome founder mutation.Familial cancer · 2012Article
- An American founder mutation in MLH1.International journal of cancer · 2012Article
- Alterations of copy number of methylation pattern in mismatch repair genes by methylation specific-multiplex ligation-dependent probe amplification in cases of colon cancer.Balkan journal of medical genetics : BJMG · 2011Article
- An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC.Familial cancer · 2010Article
- Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications.Clinical genetics · 2009Review
- Hereditary ovarian carcinoma: heterogeneity, molecular genetics, pathology, and management.Molecular oncology · 2009Review
- Recurring MLH1 deleterious mutations in unrelated Chinese Lynch syndrome families in Singapore.Familial cancer · 2009Article
- A novel MSH2 germline mutation in a Druze HNPCC family.Familial cancer · 2008Article
- Mechanisms of inactivation of MLH1 in hereditary nonpolyposis colorectal carcinoma: a novel approach.Oncogene · 2007Article
- Single-amplicon MSH2 A636P mutation testing in Ashkenazi Jewish patients with colorectal cancer: role in presurgical management.Annals of surgery · 2007Article
- MLH1 and MSH2 mutations in Colombian families with hereditary nonpolyposis colorectal cancer (Lynch syndrome)--description of four novel mutations.Familial cancer · 2005Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Two mutations in the DNA mismatch repair gene MLH1, referred to as mutations 1 and 2, are frequent among Finnish kindreds with hereditary nonpolyposis colorectal cancer (HNPCC). In order to assess the ages and origins of these mutations, we constructed a map of 15 microsatellite markers around MLH1 and used this information in haplotype analyses of 19 kindreds with mutation 1 and 6 kindreds with mutation 2. All kindreds with mutation 1 showed a single allele for the intragenic marker D3S1611 that was not observed on any unaffected chromosome. They also shared portions of a haplotype of 4-15 markers encompassing 2.0-19.0 cM around MLH1. All kindreds with mutation 2 shared another allele for D3S1611 and a conserved haplotype of 5-14 markers spanning 2.0-15.0 cM around MLH1. The degree of haplotype conservation was used to estimate the ages of these two mutations. While some recessive disease genes have been estimated to have existed and spread for as long as thousands of generations worldwide and hundreds of generations in the Finnish population, our analyses suggest that the spread of mutation 1 started 16-43 generations (400-1,075 years) ago and that of mutation 2 some 5-21 generations (125-525 years) ago. These datings are compatible with our genealogical results identifying a common ancestor born in the 16th and 18th century, respectively. Overall, our results indicate that all Finnish kindreds studied to date showing either mutation 1 or mutation 2 are due to single ancestral founding mutations relatively recent in origin in the population. Alternatively, the mutations arose elsewhere earlier and were introduced in Finland more recently.
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8940269PMC1914865W1548650014What OpenQuestion holds
Registered trials
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