Referral for genetic counseling and testing in BRCA1/2 and Lynch syndromes: A nationwide study based on 240,134 consultations and 134,652 genetic tests

التفاصيل البيبلوغرافية
العنوان: Referral for genetic counseling and testing in BRCA1/2 and Lynch syndromes: A nationwide study based on 240,134 consultations and 134,652 genetic tests
المؤلفون: Rosine Guimbaud, Pascaline Berthet, Thierry Frebourg, Marie Christine Picot, Rosette Lidereau, Philippe Jonveaux, Brigitte Bressac, Claude Houdoyer, Christine Lasset, Bruno Buecher, Catherine Noguès, Frédérique Nowak, Julien Blin, Catherine Bonaïti, Virginie Galibert, Florent Soubrier, Sophie Grandjouan, Pascal Pujol, Sylviane Olschwang, Dominique Stoppa-Lyonnet
المصدر: Journal of Clinical Oncology. 31:1528-1528
بيانات النشر: American Society of Clinical Oncology (ASCO), 2013.
سنة النشر: 2013
مصطلحات موضوعية: Cancer Research, Pediatrics, medicine.medical_specialty, Referral, Cancer predisposition, business.industry, Genetic counseling, Cancer, medicine.disease, Clinical Practice, Oncology, Family medicine, medicine, business
الوصف: 1528 Background: Patients referral to dedicated consultations for cancer predisposition syndrome has become a standard in clinical practice. Based on nationwide data from the French national cancer institute (NCI), we analyzed the evolution of cancer genetics consultations and testing over time, and the uptake of targeted tests in relatives of families with a BRCA1/2 or MMR mutation. Methods: All French cancer genetics centres completed annually a survey collecting standardized parameters for the NCI from 2003 to 2011. We report on the analysis of a total of 240,134 consultations and 134,652 genetic tests that enabled to identify 32,494 mutation carriers. Results: From 2003 to 2011, 141,639 (59 %) and 55,698 (23.2 %) patients were referred for a breast or a colorectal cancer predisposition syndrome, respectively. During this period, we found a dramatic and steadily increase in genetic tests performed for the BRCA1/2 genes (from 2095 to 7393 tests/year, P
تدمد: 1527-7755
0732-183X
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::abca95f3520c1fc2e043a2c3eb115c4d
https://doi.org/10.1200/jco.2013.31.15_suppl.1528
رقم الأكسشن: edsair.doi...........abca95f3520c1fc2e043a2c3eb115c4d
قاعدة البيانات: OpenAIRE