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Common but weakly penetrant mutations of certain genes may confer an increased susceptibility to colorectal cancer and account for a proportion of 'sporadic' cases. We analysed DNA from 111 colorectal cancer cases and 114 controls for a specific candidate sequence variation in the hereditary non-polyposis colorectal cancer gene hMSH2. The variant sequence was found in a quarter of individuals, and there was no difference between cancer cases and controls, according to age of development of cancer or presence of family history. It thus appears that this particular sequence variation is a polymorphism rather than a mutation which increases cancer susceptibility.

Type

Journal article

Journal

Eur J Cancer

Publication Date

1994

Volume

30A

Pages

1550 - 1552

Keywords

Adolescent, Adult, Base Sequence, Colorectal Neoplasms, Hereditary Nonpolyposis, DNA, Neoplasm, Disease Susceptibility, Female, Genotype, Humans, Introns, Male, Molecular Sequence Data, Pedigree, Phenotype, Polymorphism, Genetic