Please use this identifier to cite or link to this item:
Title: Clinical practice guidelines for BRCA1 and BRCA2 genetic testing
Author: Pujol, Pascal
Barberis, Massimo
Beer, Philip
Friedman, Eitan
Piulats, Josep M.
Capoluongo, Ettore D.
Garcia-Foncillas, Jesús
Ray-Coquard, Isabelle
Penault-Llorca, Frédérique
Foulkes, William D.
Turnbull, Clare
Hanson, Helen
Narod, Steven A.
Arun, Banu K.
Aapro, Matti
Mandel, Jean-Louis
Normanno, Nicola
Lambrechts, Diether
Vergote, Ignace
Anahory, Michèle
Baertschi, Bernard
Baudry, Karen
Bignon, Yves-Jean
Bollet, Marc
Corsini, Carole
Cussenot, Olivier
Motte Rouge, Thibault De La
Duboys de Labarre, Marie
Duchamp, Florence
Duriez, Clarisse
Fizazi, Karim
Galibert, Virginie
Gladieff, Laurence
Gligorov, Joseph
Hammel, Pascal
Imbert-Bouteille, Marion
Jacot, William
Kogut-Kubiak, Tatiana
Lamy, Pierre-Jean
Nambot, Sophie
Neuzillet, Yann
Olschwang, Sylviane
Rebillard, Xavier
Rey, Jean-Marc
Rideau, Chloé
Spano, Jean-Philippe
Thomas, Frédéric
Treilleux, Isabelle
Vandromme, Marion
Vendrell, Julie
Vintraud, Michèle
Zarca, Daniel
Hughes, Kevin S.
Alés Martínez, José Enrique
Keywords: Càncer de mama
Tractament adjuvant del càncer
Breast cancer
Adjuvant treatment of cancer
Issue Date: 1-Mar-2021
Publisher: Elsevier B. V.
Abstract: BRCA1 and BRCA2 gene pathogenic variants account for most hereditary breast cancer and are increasingly used to determine eligibility for PARP inhibitor (PARPi) therapy of BRCA-related cancer. Because issues of BRCA testing in clinical practice now overlap with both preventive and therapeutic management, updated and comprehensive practice guidelines for BRCA genotyping are needed. The integrative recommendations for BRCA testing presented here aim to (1) identify individuals who may benefit from genetic counselling and risk-reducing strategies; (2) update germline and tumour-testing indications for PARPi-approved therapies; (3) provide testing recommendations for personalised management of early and metastatic breast cancer; and (4) address the issues of rapid process and tumour analysis. An international group of experts, including geneticists, medical and surgical oncologists, pathologists, ethicists and patient representatives, was commissioned by the French Society of Predictive and Personalised Medicine (SFMPP). The group followed a methodology based on specific formal guidelines development, including (1) evaluating the likelihood of BRCAm from a combined systematic review of the literature, risk assessment models and expert quotations, and (2) therapeutic values of BRCAm status for PARPi therapy in BRCA-related cancer and for management of early and advanced breast cancer. These international guidelines may help clinicians comprehensively update and standardise BRCA testing practices.
Note: Reproducció del document publicat a:
It is part of: European Journal of Cancer, 2021, vol. 146, p. 30-47
Related resource:
Appears in Collections:Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

Files in This Item:
File Description SizeFormat 
PIIS0959804920314489.pdf459.45 kBAdobe PDFView/Open

This item is licensed under a Creative Commons License Creative Commons