ArticleFamilial cancer2010
MYH biallelic mutation can inactivate the two genetic pathways of colorectal cancer by APC or MLH1 transversions.
Article in Familial cancer, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 41 citations in OpenAlex.
- Diagnosis of Lynch Syndrome and Strategies to Distinguish Lynch-Related Tumors from Sporadic MSI/dMMR Tumors.Cancers · 2021Review
- Review
- MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing.Familial cancer · 2020Article
- Unresectable metastatic colorectal cancer patient cured with cetuximab-based chemotherapy: a case report with new molecular insights.Journal of gastrointestinal oncology · 2018Article
- Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer.European journal of human genetics : EJHG · 2015Article
- Biallelic MUTYH mutations can mimic Lynch syndrome.European journal of human genetics : EJHG · 2014Article
- MYH polyposis syndrome: clinical findings, genetics issues and management.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2014Review
- Reduced FHIT expression is associated with mismatch repair deficient and high CpG island methylator phenotype colorectal cancer.The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society · 2013Article
- Somatic mosaicism and double somatic hits can lead to MSI colorectal tumors.Familial cancer · 2013Article
- MUTYH the base excision repair gene family member associated with colorectal cancer polyposis.Gastroenterology and hepatology from bed to bench · 2013Review
- Human POLB gene is mutated in high percentage of colorectal tumors.The Journal of biological chemistry · 2012Article
- Map syndrome (MYH Associated Polyposis) colorectal cancer, etiopathological connections.Journal of medicine and lifeArticle
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Authors and funding
10 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
MYH associated polyposis is a hereditary syndrome responsible for early colorectal cancer with a distinct genetic pathway from the Familial Adenomatous Polyposis or the Hereditary Non Polyposis Colorectal Cancer syndrome. We have studied a family with three members bearing a biallelic mutation in MYH at c.1185_1186dup. One patient who developed colon cancer had loss of expression of MLH1 on tumoral tissue and microsatellite instability (MSI) phenotype. Analysis of MLH1 based on his blood sample revealed no germline mutation or large genomic deletion. No methylation of the promoter was identified in tumoral DNA. No transversion mutations were identified in APC or KRAS in tumor DNA of this patient. Loss of expression of MLH1 was due to a transversion in intron 7 at position +5 (c.588 + 5G > T) leading to a complete deletion of exon 7 at the RNA level. This observation demonstrates that MLH1 can be a target of MYH transversions leading to MSI phenotype.
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