| Titre : | The kin-cohort study for estimating penetrance. (1998) |
| Auteurs : | S. WACHOLDER ; L. BRODY ; P. HARTGE ; M. MCADAMS ; D. PEE ; J.P. STRUEWING ; M. TUCKER ; Division of Cancer Epidemiology and Genetics. National Cancer Institute. Bethesda. MD. USA |
| Type de document : | Article |
| Dans : | American journal of epidemiology (vol. 148, n° 7, 1998) |
| Pagination : | 623-630 |
| Langues: | Anglais |
| Mots-clés : | Cancer ; Ovaire ; Sein ; Rectum ; Méthodologie ; Epidémiologie ; Facteur risque ; Génétique ; Incidence ; Homme ; Etats Unis ; Amérique ; Glande mammaire [pathologie] ; Intestin [pathologie] ; Appareil digestif [pathologie] ; Côlon ; Amérique du Nord |
| Résumé : | [BDSP. Notice produite par INIST pLR0xGo9. Diffusion soumise à autorisation]. 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. |
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