Chromosome studies in a “cancer family”

Abstract

A family with a high incidence of malignant disease has been followed for 11 years. Thirty‐seven of the 405 members of the family have had some type of malignant process. The most common types of malignancy were carcinoma of the breast, sarcoma, and acute leukemia. Cytogenetic studies were performed on the peripheral blood of 27 members of the family. Increased numbers of abnormal chromosomes were not consistently seen, although some members of the family seemed to have more aneuploidy than would be expected from studies of the general population. One member of the family had chromosome studies before and after developing acute leukemia, and was found to have a mode of 46 chromosomes before leukemia developed and a mode of 45 chromosomes in the peripheral blood and bone marrow after acute leukemia had developed. Examination of the family tree indicates that the predisposition to develop malignancies is probably inherited as an autosomal dominant trait. There is no evidence as to the mechanism by which this takes place, although the cytogenetic studies carried out on the one family member prior to and after the development of acute leukemia suggest that the malignant cells in this individual were associated with an abnormal number of chromosomes.

Excess risk of breast cancer in the mothers of children with soft tissue sarcomas

“…Members of the 4 families initially reported have been followed up for a number of years and further cancers have developed (Li & Fraumeni, 1982). Other kindreds showing a similar array of tumours have been reported (Bottomly et al, 1971;Lynch et al, 1978;Blattner et al, 1979;Pearson et al, 1982;Duncan & Miller, 1983), and it has been suggested that there is a role for surveillance programmes aimed at early diagnosis and treatment amongst these families (Li & Fraumeni, 1975, 1982. However, all these kindreds have been ascertained by chance, or by investigating the extended pedigree of cases with a known family history of cancer, for example, sibling pairs of soft tissue sarcoma.…”

Familial occurrence of osteosarcoma

“…Since then, including our 2 cases, 59 patients in 24 families have been reported (Barry 1961;Bech-Hansen et al 1981;Bottomley et al 1971;Brenton et al 1980;Colyer 1979;Epstein et al 1970;Gilman et al 1985;Harmon and Morton 1966;Lee and Mackenzie 1964;Matejovsky 1977;McIntyre et al 1994;Miller and McLaughlin 1977;Miller 1968;Mulvihill et al 1977;Nassar and Gravanis 1981;Nishida et al 1994;Pohle et al 1936;Robbins 1967;Roberts and Roberts 1935;Salvati et al 1994;Schimke et al 1974;Smith et al 1980;Swaney 1973;Werner 1930). The authors collected data from 59 cases, including the age and sex of the patient, the anatomical site, and previous disorders, treatment, and prognosis.…”

Genetic and pathologic findings in a kindred with hereditary sarcoma breast cancer, brain tumors, leukemia, lung, laryngeal, and adrenal cortical carcinoma

“…Distributions differ by sex; the predominant tumors being breast cancer among affected females (53%), as opposed to sarcomas among males (41%). Considering both sexes, approximately 80% of these tumors consists of the following: sarcomas (29%); breast cancer (30%); brain tu- (6). larynx (3), prostate (2), pancreas ( I ) , and Hodgkins disease (1).…”

“…36 There is no firm evidence that such inclusions are related to the presence of virus or to products of viral activity, and in fact, electron microscopic evidence is to the contrary. 3 5 3 3 6 Froelich and Lapham, l9 however, on the basis of tissue culture studies of gliomas, maintain that one category of acidophilic intranuclear inclusion may be virus-related.…”