ArticleFamilial cancer2009
Homozygosity of MSH2 c.1906G-->C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I.
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 10 papers.
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Who cites it
10 citing papers in PubMed, 27 citations in OpenAlex.
- The Challenge of Diagnosing Constitutional Mismatch Repair Deficiency Syndrome in Brain Malignancies from Young Individuals.International journal of molecular sciences · 2021Review
- Impacts of NF1 Gene Mutations and Genetic Modifiers in Neurofibromatosis Type 1.Frontiers in neurology · 2021Review
- Cancer Predisposition Syndromes and Medulloblastoma in the Molecular Era.Frontiers in oncology · 2020Review
- A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes.Journal of genetic counseling · 2017Review
- Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium.The American journal of gastroenterology · 2016Article
- Predictive genetic testing in children: constitutional mismatch repair deficiency cancer predisposing syndrome.Journal of genetic counseling · 2014Article
- Lynch Syndrome in high risk Ashkenazi Jews in Israel.Familial cancer · 2014Article
- TP53 p.R337H is a conditional cancer-predisposing mutation: further evidence from a homozygous patient.BMC cancer · 2013Article
- An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC.Familial cancer · 2010Article
- Constitutional mismatch repair-deficiency syndrome.Haematologica · 2010Article
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Authors and funding
12 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary non-polyposis colorectal cancer is a cancer predisposition syndrome known to be caused by heterozygous germline mutations in DNA mismatch repair genes (MMR) most commonly hMLH1, hMSH2, hMSH6. Heterozygous mutations in one of these genes confer an increased risk, mainly for colon and endometrial cancer. Recently, several publications identified that biallelic mutations in the MMR genes are associated with a more severe phenotype, including childhood malignancies and signs of neurofibromatosis type I (NF1). We report on a non-consanguineous Ashkenazi Jewish family with two affected siblings with features of NF1, colon cancer and astrocytoma at age 13 and 14. Their mother developed endometrial cancer at age 54. Their father had leukoplakia of the vocal cords with a family history of pancreatic cancer. Molecular and pathology studies were done on the tumor tissue and on genomic DNA of family members. Tumor testing demonstrated a high degree of microsatellite instability (MSI analysis), expression of MLH1 and absence of expression of both MSH2 and MSH6 proteins. A biallelic c.1906G > C (p.A636P) mutation in the hMSH2 gene was detected in the blood of one affected child. Parental genetic testing showed that each parent was heterozygote for the mutation. The c.1906G > C mutation is a founder mutation in the Ashkenazi Jewish population. To our knowledge this is the first report of homozygosity for this founder mutation.
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