ArticleFamilial cancer2012
High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis.
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 8 papers.
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Who cites it
8 citing papers in PubMed, 16 citations in OpenAlex.
- Genetic investigation of a Tunisian family with Lynch syndrome: a case report.Frontiers in oncology · 2025Article
- Article
- Phenotype Correlations With Pathogenic DNA Variants in theHuman mutation · 2024Review
- A Review of Cancer Genetics and Genomics Studies in Africa.Frontiers in oncology · 2020Review
- Association of a New Germline Variant in the MUTYH DNA Glycosylase Gene with Colorectal Adenoma Transformation into MalignancyIranian biomedical journal · 2019Article
- The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management.The application of clinical genetics · 2015Review
- Genetic predisposition to colorectal cancer: where we stand and future perspectives.World journal of gastroenterology · 2014Review
- MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.European journal of human genetics : EJHG · 2014Article
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Germline mutations in the base excision repair gene MUTYH have been associated with recessive inheritance of multiple colorectal adenomas. Screening of the MUTYH gene was carried on index cases of 10 unrelated Tunisian families and on available DNA samples from some members. Three germline mutations: c.536A > G (p.Y179C), c.1187 G > A (p.G396D) and c.1227_1228dup (p.Glu410GlyfsX43), were identified in the homozygous or compound heterozygous state in 8 out of 10 families. The c.1227_1228dup (p.Glu410GlyfsX43) mutation was the most frequent, since it was found in biallelic homozygous in 7 probands and 2 members of family F1 and in compound heterozygous associated with the c.536 A > G (p.Y179C) or c.1187 G > A (p.G396D) in family F2. Haplotype analysis revealed that the 8 families are unrelated. Moreover, in sporadic colorectal cancer, the c.1227_1228dup (p.Glu410GlyfsX43) mutation was identified in 13 % of patients compared to the p.G396D and p.Y179C found in 1.2 and 2.12 % respectively. Our data shows the high prevalence of the p.Glu410GlyfsX43 mutation in Tunisian families affected with MUTYH associated polyposis as well as in sporadic colorectal carcinoma.
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