Article
Detection of new mutations in six out of 10 Swiss HNPCC families by genomic sequencing of the hMSH2 and hMLH1 genes.
Journal of medical genetics - 1 Nov 1995
Buerstedde J M, Alday P, Torhorst J, Weber W, Müller H, Scott R
Abstract excerpt
The cancer predisposition in most HNPCC families is believed to be associated with mutations in the human mismatch repair gene homologues hMSH2 and hMLH1. We searched for mutations in our collection of 10 Swiss HNPCC families by sequencing the exons and exon/intron boundaries of the hMSH2 and hML...
Topics
- Adenocarcinoma, Mucinous
- Adolescent
- Adult
- Base Sequence
- Brain Neoplasms
- Codon
- Colorectal Neoplasms, Hereditary Nonpolyposis
- DNA Mutational Analysis
- DNA Repair
- DNA-Binding Proteins
- Endometrial Neoplasms
- Female
- Genetic Heterogeneity
- Glioblastoma
- Humans
- Middle Aged
- Molecular Sequence Data
- MutS Homolog 2 Protein