A cross-sectional study may be more feasible than a cohort or case-control study for examining the effect of a genetic mutation on cancer penetrance outside of cancer families.
The kin-cohort design uses volunteer probands selected from a population with a relatively high frequency of the mutations of interest. : By considering the cancer risk in first-degree relatives of mutation-positive and - negative probands as a weighted average of the risk in carriers and noncarriers, with weights calculated assuming a known mode of inheritance, one can infer the penetrance of the mutations.
The estimates of penetrance by age 70 years for three specific mutations in the BRCA 1 and BRCA2 genes common among Ashkenazi Jews for the first occurrence of breast or ovary cancer is 63%. The kin-cohort design can be a useful tool for quickly estimating penetrance from volunteers in a setting in which the mutation prevalence is relatively high.
Mots-clés Pascal : Tumeur maligne, Ovaire, Glande mammaire, Côlon, Rectum, Etude familiale, Méthodologie, Epidémiologie, Facteur risque, Génétique, Incidence, Homme, Etude cohorte, Etats Unis, Amérique du Nord, Amérique, Appareil génital femelle pathologie, Ovaire pathologie, Glande mammaire pathologie, Côlon pathologie, Intestin pathologie, Appareil digestif pathologie, Rectum pathologie
Mots-clés Pascal anglais : Malignant tumor, Ovary, Mammary gland, Colon, Rectum, Family study, Methodology, Epidemiology, Risk factor, Genetics, Incidence, Human, Cohort study, United States, North America, America, Female genital diseases, Ovarian diseases, Mammary gland diseases, Colonic disease, Intestinal disease, Digestive diseases, Rectal disease
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 98-0511399
Code Inist : 002B04B. Création : 23/03/1999.