Intestinal polyposis and carcinoma originating from a mutation in a family group

Abstract

N , w P ~I .Y P O S I S has been shown to fol-I low R hereditary pattern in some family groups.',3, 4-69 9, 13.1.1, 16 ?'lieindividual polyps are known to bcc.onie inalignant if they are allowed to remain in the body.3-7, s, l:, It is therefore evident that carcinoma of the colon and rectum may have ;I hereditary basis in a given kindred.T h e present study was designed to determine the incidence, mode of inheritance, antl possible origin of the gene responsible for intestinal polyposis in a family group.T h e relationship between polyposis and carcinoma was also considered.Both clinical and family-history data were included.T h e literature was sumiiiarizecl and the methods of procedure were described previously.sFrom a total of twenty-five family groups (kindreds) included in a project designed to identify and study hereditary predisposing factors for cancer, three were found to include members with intestinal polyposis.These were identified as kindreds 109, 135, and 134 in the records of the 1,abotatory of Human Genetics, IJniversity oE IJtah.T h e first (Kindred 109) was studied extensively.8~~Members of all branches of the kindred were interviewed, and the ancestral lines of those marrying into the kindred in the first and second generations xvere also followed.More than 1000 individuals were included in the investigation.All fortyfour living members of one branch of the kindred more than 4 years of age were examined by appropriate clinical methods for polyposis and cancer of the lower digestive tract.Six were found to have multiple polyps in the colon.I n