Clinical practice guidelines for BRCA1 and BRCA2 genetic testing.

Pascal Pujol, Massimo Barberis, Philp Beer, Eitan Friedman, Josep M Piulats, Ettore D Capoluongo, Jesus Garcia Foncillas, Isabelle Ray-Coquard, Frédérique Penault-Llorca, William D Foulkes, Clare Turnbull, Helen Hanson, Steven Narod, Banu K Arun, Matti S Aapro, Jean-Louis Mandel, Nicola Normanno, Diether Lambrechts, Ignace Vergote, Michèle Anahory, Bernard Baertschi, Karen Baudry, Yves-Jean Bignon, Marc Bollet, Carole Corsini, Olivier Cussenot, Thibault De la Motte Rouge, Marie Duboys de Labarre, Florence Duchamp, Clarisse Duriez, Karim Fizazi, Virginie Galibert, Laurence Gladieff, Joseph Gligorov, Pascal Hammel, Marion Imbert-Bouteille, William Jacot, Tatiana Kogut-Kubiak, Pierre-Jean Lamy, Sophie Nambot, Yann Neuzillet, Sylviane Olschwang, Xavier Rebillard, Jean-Marc Rey, Chloé Rideau, Jean-Philippe Spano, Frédéric Thomas, Isabelle Treilleux, Marion Vandromme, Julie Vendrell, Michèle Vintraud, Daniel Zarca, Kevin S Hughes, Jose E Alés Martínez

Journal: European journal of cancer (Oxford, England : 1990) 2021;146():30-47

PMID: 33578357

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.

Copyright © 2021 The Authors. Published by Elsevier Ltd.. All rights reserved.

Address: Department of Cancer Genetics, CHU Montpellier, Univ Montpellier, Montpellier, France; CREEC, UMR IRD 224-CNRS 5290 Université Montpellier, Montpellier, France. Electronic address: [email protected].; Pathology Unit, European Institute of Oncology, Milan, Italy. Electronic address: [email protected].; Wellcome Trust Sanger institute, Cambridge, United Kingdom; Glasgow Precision Oncology Laboratory, United Kingdom. Electronic address: [email protected].; The Susanne Levy Gertner Oncogenetics Unit, Chaim Sheba Medical Center, Ramat Gan, Israel; Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel. Electronic address: [email protected].; Unidad Funcional de Cáncer de Próstata, Servicio de Oncología Médica, Hospital Universitari de Bellvitge-Institut Català d'Oncologia (ICO), Hospitalet de Llobregat, Spain; Servicio de Oncología Médica, Institut Català d'Oncologia (ICO), Hospitalet de Llobregat, Spain. Electronic address: [email protected].; Dipartimento di Medicina Molecolare e Biotecnologie Mediche Università Federico II, CEINGE Biotecnologie Avanzate, Naples, 80145, Italy. Electronic address: [email protected].; Translational Oncology Division, Oncohealth Institute, IIS-Fundación Jimenez Diaz-UAM, Madrid, Spain. Electronic address: [email protected].; Oncologie Médicale, Centre Leon Bérard; Univ Lyon, Université Claude Bernard Lyon1, Hesper EA 7425, F - 69003, Lyon, France. Electronic address: [email protected].; Department of Biology and Pathology, Centre Jean Perrin, Clermont Ferrand, France; UMR INSERM 1240, Université Clermont Auvergne, Clermont Ferrand, France. Electronic address: [email protected].; McGill University, Division of Medical Genetics, Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, Quebec, Canada. Electronic address: [email protected].; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK; Genomics England, Queen Mary University of London, London, UK; Cancer Genetics Unit, Royal Marsden NHS Foundation Trust, London, UK. Electronic address: [email protected].; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK. Electronic address: [email protected].; University of Toronto Dalla Lana School of Public Health, Toronto, ON, Canada; Canada Women's College Research Institute, Women's College Hospital, Toronto, ON, Canada. Electronic address: [email protected].; Anderson Cancer Center, The University of Texas, Department of Breast Medical Oncology, Division of Cancer Medicine, USA. Electronic address: [email protected].; IMO Clinique de Genolier, Genolier, Switzerland. Electronic address: [email protected].; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France; Université de Strasbourg, Illkirch, France. Electronic address: [email protected].; Cell Biology and Biotherapy Unit, Istituto Nazionale Tumori-IRCCS-Fondazione G. Pascale, Naples, Italy. Electronic address: [email protected].; Laboratory of Translational Genetics (VIB-KU Leuven), ON IV Herestraat 49 - box 912, 3000, Leuven Belgium. Electronic address: [email protected].; Department of Gynaecologic Oncology University Hospitals Leuven, Gasthuisberg Herestraat 49, 3000 Leuven, Belgium. Electronic address: [email protected].; Pech de Laclause, Bathmanabane & Associés Law Firm, Paris, France. Electronic address: [email protected].; French National Institute for Health and Medical Research (INSERM) Ethics Committee, France University of Geneva, Geneva, Switzerland. Electronic address: [email protected].; Department of Cancer Genetics, CHU Montpellier, Univ Montpellier, Montpellier, France. Electronic address: [email protected].; Department of Oncogenetics, Centre Jean Perrin, CBRV, Clermont-Ferrand, France; INSERM-U1240-Molecular Imaging and Theranostic Strategies (IMOST), Clermont-Ferrand, France. Electronic address: [email protected].; Institut Hartmann, 4, rue Kléber, et Institut Rafael, 3 bd Bineau, 92309 Levallois-Perret cedex, France. Electronic address: [email protected].; Department of Cancer Genetics, CHU Montpellier, Univ Montpellier, Montpellier, France. Electronic address: [email protected].; CeRePP, Hopital Tenon, Paris, France; Sorbonne Université, Institut Universitaire de Cancérologie, GRC n°5 ONCOTYPE-URO, Hopital Tenon, APHP, Paris, France; Department of Urology, Assistance Publique- Hôpitaux de Paris, Hopital Tenon, Paris, France. Electronic address: [email protected].; Inserm, Oncogenesis, Stress and Signaling, 35000 Rennes, France; Service d'oncologie médicale, CRLCC Eugène-Marquis, 35000 Rennes, France; UMR 1242, Inserm, Univ Rennes, CLCC Eugène Marquis, Rue Bataille Flandres Dunkerque, 35042, Rennes, France. Electronic address: [email protected].; Department of Cancer Genetics, CHU Montpellier, Univ Montpellier, Montpellier, France. Electronic address: [email protected].; Department of Cancer Genetics, CHU Montpellier, Univ Montpellier, Montpellier, France. Electronic address: [email protected].; BRCA France Association, France. Electronic address: [email protected].; Institut Gustave Roussy and University of Paris Sud, Villejuif, France. Electronic address: [email protected].; Department of Cancer Genetics, CHU Montpellier, Univ Montpellier, Montpellier, France. Electronic address: [email protected].; Department of Medical Oncology, Institut Claudius Regaud, IUCT-O, Toulouse, France. Electronic address: [email protected].; APHP-Tenon, IUC-UPMC, Sorbonne University, Paris, France. Electronic address: [email protected].; Department of Pancreatology, Hôpital Beaujon (AP-HP), Université Denis Diderot-Paris VII, Clichy, France. Electronic address: [email protected].; Department of Cancer Genetics, CHU Montpellier, Univ Montpellier, Montpellier, France. Electronic address: [email protected].; Department of Medical Oncology, Institut du Cancer de Montpellier (ICM), Univ. Montpellier, 208 rue des Apothicaires, 34298, Montpellier Cedex 5, France; Translational Research Unit, Institut du Cancer de Montpellier (ICM), Univ. Montpellier, Montpellier, France. Electronic address: [email protected].; Department of Cancer Genetics, CHU Montpellier, Univ Montpellier, Montpellier, France. Electronic address: [email protected].; Institut d'analyse génomique-Imagenome, Labosud, Montpellier, France. Electronic address: [email protected].; Centre de Génétique et Centre de Référence Maladies Rares (Anomalies du Développement de l'Interrégion Est), Hôpital d'Enfants, CHU Dijon Bourgogne, Dijon, France; Inserm UMR 1231 GAD (Génétique des Anomalies du Développement), Université de Bourgogne, Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (FHU TRANSLAD), CHU Dijon Bourgogne et Université de Bourgogne-Franche Comté, Dijon, France. Electronic address: [email protected].; Service d'urologie et de transplantation rénale, hôpital Foch, université de Versailles - Saint-Quentin-en-Yvelines, 40, rue Worth, 92150 Suresnes, France. Electronic address: [email protected].; Aix Marseille Université, INSERM GMGF UMR 1251, France; Département de Génétique Médicale, Hôpital Européen & Groupe Ramsay Générale de Santé, Hôpital Clairval, Aix Marseille Université, Marseille, France. Electronic address: [email protected].; Service d'Urologie, Clinique Beausoleil, Montpellier, France. Electronic address: [email protected].; Department of Cancer Genetics, CHU Montpellier, Univ Montpellier, Montpellier, France. Electronic address: [email protected].; Department of Cancer Genetics, CHU Montpellier, Univ Montpellier, Montpellier, France. Electronic address: [email protected].; Department of Medical Oncology, Hôpital Pitié Salpêtrière, APHP, Sorbonne Université, Paris, France; Inserm UMRS 1136, Sorbonne Université, Paris, France. Electronic address: [email protected].; IRD, CREEC et MIVE911 avenue Agropolis, BP 64501, Montpellier 34 394, France. Electronic address: [email protected].; Department of Pathology, Centre Léon Bérard, 28 rue Laënnec, 69373, Lyon Cédex 08, France. Electronic address: [email protected].; BRCA France Association, France. Electronic address: [email protected].; IRCM, INSERM 1194, Department of Pathology and Oncobiology, Laboratoire de biologie des tumeurs solides, CHU Montpellier, Univ Montpellier, Montpellier, France. Electronic address: [email protected].; Department of Radiotherapy, Hartmann Radiotherapy Center, Levallois-Perret, France. Electronic address: [email protected].; The Paris Breast Centre- L'Institut Français du Sein- 15 rue Jean Nicot, 75007, Paris, France. Electronic address: [email protected].; Division of Surgical Oncology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA. Electronic address: [email protected].; Medical Oncology Department, Hospital Nuestra Señora de Sonsoles, Ávila, Ávila, Spain. Electronic address: [email protected].
Bant logo

© Copyright 2026, Nutrition Evidence

NED wishes to thank the following organisations for their support:

We use cookies to improve your experience and analyze site traffic with Google Analytics. By continuing to use our site, you agree to our use of cookies. Learn more.