Segregation analysis of cancer in families of childhood soft-tissue-sarcoma patients.

摘要: This paper presents the analysis of familial cancer data collected in a hospital-based study 159 childhood soft-tissue-sarcoma patients. Two different statistical models detected excess aggregation cancer, which could be explained by rare dominant gene. For each kindred, we estimated probability observed distribution under dominant-gene model and identified 12 families that are most likely to segregating those have confirmed germ-line mutations p53 tumor-suppressor The relative risk affection for children who gene carriers was 100 times background rate. Females were found slightly higher age-specific penetrance, but maternal paternal lineages made equal contributions evidence favor proband's histology, ethnicity, age at diagnosis evaluated determine whether any these altered family members. Only embryonal rhabdomyosarcoma significant covariate model. While molecular genetic studies will eventually provide answers questions heterogeneity, age- site-specific mutation rates, frequency, information from is useful setting priorities defining hypotheses.