Familial occurrence of colon and uterine carcinoma and of lymphoproliferative malignancies. II. Chromosomal and immunologic abnormalities.

Cytogenic and immunologic studies were performed on 20 members of a family who had an increased susceptibility to carcinomas of the colon, uterus and of lymphoproliferative malignancy. Chromosomal abnormalities such as small G and/or long submetacentric marker chromosome and other aberrations were observed in members who had cancer as well as some asymptomatic siblings. In addition, impairment of T cell function was noted in many of the members suggesting that defective cell-mediated immunity, which also may be genetically determined, played an important role in the expression of this disease.