This article presents analysis of clinical and family data for 239 patients with childhood soft tissue sarcoma (STS) treated at the Institut Gustave Roussy in Villejuif.
A molecular study was performed to detect germline p53 mutations in the 44 families in which at least 1 relative developed cancer before the age of 46 or in which the proband had a second neoplasm.
Mutations were found in five families.
Standardized incidence ratio calculation and segregation analysis were used to study cancer occurrence in 4448 relatives, including first-and second-degree relatives and first cousins.
An excess of brain tumors was observed in all relatives, and of breast carcinoma and STS in first-degree relatives of patients with STS.
An excess of breast carcinoma was observed only in young mothers of patients with rhabdomyosarcoma.
This excess might be mostly linked to the presence of a germline p53 mutation because it was no more significant when excluding families in which such a mutation existed.
No association between breast carcinoma in the mother and rhabdomyosarcoma of the genitourinary tract in the proband was observed.
This should be kept in mind when developing a screening strategy for breast carcinoma in mothers of patients with STS.
Segregation analysis showed evidence for transmission of an autosomal dominant gene with complete penetrance by the age of 84.
The genetic component was explained primarily by p53 germline mutations.
Mots-clés Pascal : Sarcome, Partie molle, Enfant, Homme, Facteur risque, Parent, Etude familiale, Incidence, Epidémiologie, Gène suppresseur tumeur, Déterminisme génétique, Carcinogenèse, France, Europe, Tumeur maligne, Gène TP53
Mots-clés Pascal anglais : Sarcoma, Soft tissue, Child, Human, Risk factor, Parent, Family study, Incidence, Epidemiology, Tumor suppressor gene, Genetic inheritance, Carcinogenesis, France, Europe, Malignant tumor, TP53 gene
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 96-0469725
Code Inist : 002B08A. Création : 10/04/1997.