Titre :
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Presymptomatic DNA testing and prophylactic surgery in families with a BRCA1 or BRCA2 mutation. (2000)
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Auteurs :
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E.J. MEIJERS-HEIJBOER ;
C.T.M. BREKELMANS ;
P. DEVILEE ;
L. DUKEL ;
J.G.M. KLIJN ;
C. SEYNAEVE ;
M.M. TILANUS-LINTHORST ;
A.M.W. VAN DEN OUWELAND ;
A.N. VAN GEEL ;
L.C. VERHOOG ;
A. WAGNER ;
Department of Clinical Genetics. Erasmus University. Rotterdam. NLD ;
Family Cancer Clinic. Rotterdam Cancer Institute. Dr Daniel den Hoed Klinlek and Academic Hospital Rotterdam. NLD
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Type de document :
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Article
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Dans :
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Lancet (The) (vol. 355, n° 9220, 2000)
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Pagination :
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2015-2020
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Langues:
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Anglais
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Mots-clés :
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Sein
;
Ovaire
;
Test
;
Chirurgie
;
Femme
;
Homme
;
Résultat
;
Cancer
;
Glande mammaire [pathologie]
;
Immunopathologie
;
Génétique
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Résumé :
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[BDSP. Notice produite par INIST aR0xBBzH. Diffusion soumise à autorisation]. Background Germline mutations in the BRCA1 and BRCA2 genes highly predispose to breast and ovarian cancer. In families with BRCA1 or BRCA2 mutations, identification of mutation carriers is clinically relevant in view of the options for surveillance and prevention. Methods We assessed presymptomatic DNA testing and prophylactic surgery in 53 consecutive families presenting to the Rotterdam Family Cancer Clinic with a known BRCA1 or BRCA2 mutation. We identified predictors for DNA testing and prophylactic surgery with univariate and multivariate analysis. Findings 682 unaffected individuals with a 50% risk (275 women and 271 men) or with a 25% risk (136 women) for carrying a mutation were identified and offered a DNA test. Presymptomatic DNA testing was requested by 48% (198 of 411) of women and 22% (59 of 271) of men (odds ratio for difference between sexes 3.21 [95% Cl 2.27-4.51] ; p
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