ArticleFamilial cancer2007
The phenotypic expression of three MSH2 mutations in large Newfoundland families with Lynch syndrome.
Article in Familial cancer, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.
- [Gender-specific differences in the development of colorectal cancer in Lynch syndrome patients-A systematic review].Chirurgie (Heidelberg, Germany) · 2024Pooled it
- Cancer Risks for PMS2-Associated Lynch Syndrome.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2018Article
- Evaluation of a population-based approach to familial colorectal cancer.Clinical genetics · 2017Article
- Old meets new: identifying founder mutations in genetic disease.CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne · 2015Article
- Management of ovarian and endometrial cancers in women belonging to HNPCC carrier families: review of the literature and results of cancer risk assessment in Polish HNPCC families.Hereditary cancer in clinical practice · 2015Article
- Identification of novel variants in colorectal cancer families by high-throughput exome sequencing.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2013Article
- Development and preliminary testing of the psychosocial adjustment to hereditary diseases scale.BMC psychology · 2013Article
- A Newfoundland cohort of familial and sporadic idiopathic pulmonary fibrosis patients: clinical and genetic features.Respiratory research · 2012Article
- Association of genomic instability, and the methylation status of imprinted genes and mismatch-repair genes, with neural tube defects.European journal of human genetics : EJHG · 2012Article
- The liver: another organ involved in Muir Torre syndrome?Familial cancer · 2012Article
- Article
- Anticipation in lynch syndrome: where we are where we go.Current genomics · 2011Article
- Lynch syndrome: barriers to and facilitators of screening and disease management.Hereditary cancer in clinical practice · 2011Article
- Access to genetic testing and genetic counseling in vulnerable populations: the d/Deaf and hard of hearing population.Journal of community genetics · 2011Article
- Article
- Penetrance of HNPCC-related cancers in a retrolective cohort of 12 large Newfoundland families carrying a MSH2 founder mutation: an evaluation using modified segregation models.Hereditary cancer in clinical practice · 2009Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To compare the phenotypic expression of three different MSH2 mutations causing Lynch syndrome, 290 family members at 50% risk of inheriting a mutation were studied. Two truncating mutations of the MSH2 gene have been identified in Newfoundland: an exon 8 deletion in five families (N=74 carriers) and an exon 4-16 deletion in one family (N=65 carriers). The third mutation was an intron 5 splice site mutation resulting in deletion of exon 5 in RNA and occurred in 12 families (N=151 carriers). Age to onset of first cancer, first colorectal cancer (CRC), first extracolonic cancers and death were compared. By age 60, 89% of family members with the intron 5 mutation, 81% with the exon 8 deletion, and 85% with the exon 4-16 deletion had developed cancer. For all three mutations males had a higher age-related risk of CRC and death compared to females. In the intron 5 splice site mutation carriers, the number of transitional cell cancers of the urinary tract was significantly lower and time to first ovarian cancer was significantly higher than in the carriers of the genomic deletions. The incidence of CRC in MSH2 mutation carriers, exposed to the same environment, is not modified by the specific mutation, although there is a suggestion that type of mutation may influence development of some extracolonic cancers.
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