Low prevalence of germline hMSH6 mutations in colorectal cancer families from Spain.

ABSTRACT:

Aim

To investigate the prevalence and penetrance of hMSH6 mutations in Spanish HNPCC families that was negative for mutation in hMLH1 or hMSH2.

Methods

We used PCR-based DGGE assay and direct sequencing to screen for hMSH6 gene in 91 HNPCC families.

Results

we have identified 10 families with germ-line mutations in the DNA sequence. These mutations included two intronic variation, three missense mutation, one nonsense mutation, and four silent mutations. Among the 10 germ-line mutations identified in the Spanish cohort, 8 were novel, perhaps, suggesting different mutational spectra in the Spanish population. Detailed pedigrees were constructed for the three families with a possible pathogenic hMSH6 mutation. The two silent mutations H388H and L758L, detected in a pers

SUBMITTER: Sanchez de Abajo A 

PROVIDER: S-EPMC4479674 | biostudies-literature | 2005 Oct

REPOSITORIES: biostudies-literature