Structure of the human MLH1 locus and analysis of a large hereditary nonpolyposis colorectal carcinoma kindred for mlh1 mutations

Hereditary nonpolyposis colorectal carcinoma is a major cancer susceptibility syndrome known to be caused by inheritance of mutations in at least four genes such as hMSH2, hMLH1, hPMS1, and hPMS2 which encode components of a DNA mismatch repair system. The hMLH1 genomic locus on chromosome 3p has be...

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Bibliographic Details
Published in:Cancer research (Chicago, Ill.) Ill.), 1995-01, Vol.55 (2), p.242-248
Main Authors: KOLODNER, R. D, HALL, N. R, BISHOP, D. T, LIPFORD, J, KANE, M. F, MORRISON, P. T, FINAN, P. J, BURN, J, CHAPMAN, P, EARABINO, C, MERCHANT, E
Format: Article
Language:English
Subjects:
Base Sequence
Biological and medical sciences
chromosome 3
Chromosomes, Human, Pair 3 - genetics
colorectal carcinoma
Colorectal Neoplasms, Hereditary Nonpolyposis - genetics
DNA Mutational Analysis
Exons - genetics
family studies
Female
Gastroenterology. Liver. Pancreas. Abdomen
Humans
Male
man
Medical sciences
MLH1 gene
Molecular Sequence Data
mutation
Mutation - genetics
Pedigree
Stomach. Duodenum. Small intestine. Colon. Rectum. Anus
Tumors
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Summary:Hereditary nonpolyposis colorectal carcinoma is a major cancer susceptibility syndrome known to be caused by inheritance of mutations in at least four genes such as hMSH2, hMLH1, hPMS1, and hPMS2 which encode components of a DNA mismatch repair system. The hMLH1 genomic locus on chromosome 3p has been cloned and shown to cover approximately 58 kilobases of genomic DNA and contain 19 exons. The sequence of all of the intron-exon junctions has been determined and used to develop methods for analyzing each hMLH1 exon for mutations. Using these methods to analyze a 3p-linked hereditary nonpolyposis colorectal carcinoma kindred, we have demonstrated that cancer susceptibility in this family is due to the inheritance of a frame shift mutation in the hMLH1 gene.
ISSN:0008-5472
1538-7445