Article
Genotype and phenotype of a new 2-bp deletion of hMSH2 at codon 233.
Virchows Archiv : an international journal of pathology - 1 Aug 2001
Müller A, Beyser K, Arps H, Bolander S, Becker H, Rüschhoff J
Abstract excerpt
Germline mutations within mismatch repair genes, such as hMSH2, hMLH1, and hMSH6, have been shown to be the hallmark of the hereditary nonpolyposis colorectal cancer (HNPCC) syndrome. The spectrum of tumors associated with mismatch repair gene defects and the possible relationship between genotype and phenotype are still unclear. Therefore, the spectrum of tumors and the possible genotype-phenotype relationship...
Topics
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Breast Neoplasms
- Child, Preschool
- Codon
- Colorectal Neoplasms, Hereditary Nonpolyposis
- DNA Mutational Analysis
- DNA, Neoplasm
- DNA-Binding Proteins
- Female
- Genetic Predisposition to Disease
- Genotype