Clinical practice guidelines for BRCA1 and BRCA2 genetic testing.

Department of Cancer Genetics, CHU Montpellier, Univ Montpellier, Montpellier, France; CREEC, UMR IRD 224-CNRS 5290 Université Montpellier, Montpellier, France. Electronic address: p-pujol@chu-montpellier.fr. Pathology Unit, European Institute of Oncology, Milan, Italy. Electronic address: Massimo.barberis@ieo.it. Wellcome Trust Sanger institute, Cambridge, United Kingdom; Glasgow Precision Oncology Laboratory, United Kingdom. Electronic address: pbeer@doctors.org.uk. 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: Eitan.Friedman@sheba.health.gov.il. 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: jmpiulats@iconcologia.net. Dipartimento di Medicina Molecolare e Biotecnologie Mediche Università Federico II, CEINGE Biotecnologie Avanzate, Naples, 80145, Italy. Electronic address: ettoredomenico.capoluongo@unina.it. Translational Oncology Division, Oncohealth Institute, IIS-Fundación Jimenez Diaz-UAM, Madrid, Spain. Electronic address: jesus.garciafoncillas@oncohealth.eu. Oncologie Médicale, Centre Leon Bérard; Univ Lyon, Université Claude Bernard Lyon1, Hesper EA 7425, F - 69003, Lyon, France. Electronic address: Isabelle.Ray-Coquard@lyon.unicancer.fr. Department of Biology and Pathology, Centre Jean Perrin, Clermont Ferrand, France; UMR INSERM 1240, Université Clermont Auvergne, Clermont Ferrand, France. Electronic address: Frederique.PENAULT-LLORCA@cjp.fr. McGill University, Division of Medical Genetics, Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, Quebec, Canada. Electronic address: william.foulkes@mcgill.ca. 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: Clare.Turnbull@genomicsengland.co.uk. Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK. Electronic address: helen.hanson@icr.ac.uk. 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: Steven.Narod@wchospital.ca. Anderson Cancer Center, The University of Texas, Department of Breast Medical Oncology, Division of Cancer Medicine, USA. Electronic address: barun@mdanderson.org. IMO Clinique de Genolier, Genolier, Switzerland. Electronic address: Maapro@genolier.net. Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France; Université de Strasbourg, Illkirch, France. Electronic address: jlmandel@igbmc.fr. Cell Biology and Biotherapy Unit, Istituto Nazionale Tumori-IRCCS-Fondazione G. Pascale, Naples, Italy. Electronic address: n.normanno@istitutotumori.na.it. Laboratory of Translational Genetics (VIB-KU Leuven), ON IV Herestraat 49 - box 912, 3000, Leuven Belgium. Electronic address: diether.lambrechts@kuleuven.vib.be. Department of Gynaecologic Oncology University Hospitals Leuven, Gasthuisberg Herestraat 49, 3000 Leuven, Belgium. Electronic address: ignace.vergote@uzleuven.be. Pech de Laclause, Bathmanabane & Associés Law Firm, Paris, France. Electronic address: manahory@pechdelaclause.com. French National Institute for Health and Medical Research (INSERM) Ethics Committee, France University of Geneva, Geneva, Switzerland. Electronic address: bernard.baertschi@unige.ch. Department of Cancer Genetics, CHU Montpellier, Univ Montpellier, Montpellier, France. Electronic address: k-baudry@chu-montpellier.fr. Department of Oncogenetics, Centre Jean Perrin, CBRV, Clermont-Ferrand, France; INSERM-U1240-Molecular Imaging and Theranostic Strategies (IMOST), Clermont-Ferrand, France. Electronic address: Yves-Jean.Bignon@cjp.fr. Institut Hartmann, 4, rue Kléber, et Institut Rafael, 3 bd Bineau, 92309 Levallois-Perret cedex, France. Electronic address: marc.bollet@horg.fr. Department of Cancer Genetics, CHU Montpellier, Univ Montpellier, Montpellier, France. Electronic address: c-corsini@chu-montpellier.fr. 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: olivier.cussenot@tnn.aphp.fr. 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: t.delamotterouge@rennes.unicancer.fr. Department of Cancer Genetics, CHU Montpellier, Univ Montpellier, Montpellier, France. Electronic address: m-duboysdelabarre@chu-montpellier.fr. Department of Cancer Genetics, CHU Montpellier, Univ Montpellier, Montpellier, France. Electronic address: f-duchamp@chu-montpellier.fr. BRCA France Association, France. Electronic address: duriez.clarisse@gmail.com. Institut Gustave Roussy and University of Paris Sud, Villejuif, France. Electronic address: karim.FIZAZI@gustaveroussy.fr. Department of Cancer Genetics, CHU Montpellier, Univ Montpellier, Montpellier, France. Electronic address: v-galibert@chu-montpellier.fr. Department of Medical Oncology, Institut Claudius Regaud, IUCT-O, Toulouse, France. Electronic address: Gladieff.Laurence@iuct-oncopole.fr. APHP-Tenon, IUC-UPMC, Sorbonne University, Paris, France. Electronic address: joseph.gligorov@aphp.fr. Department of Pancreatology, Hôpital Beaujon (AP-HP), Université Denis Diderot-Paris VII, Clichy, France. Electronic address: pascal.hammel@bjn.aphp.fr. Department of Cancer Genetics, CHU Montpellier, Univ Montpellier, Montpellier, France. Electronic address: m-imbert-bouteille@chu-montpellier.fr. 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: William.Jacot@icm.unicancer.fr. Department of Cancer Genetics, CHU Montpellier, Univ Montpellier, Montpellier, France. Electronic address: t-kogutkubiak@chu-montpellier.fr. Institut d'analyse génomique-Imagenome, Labosud, Montpellier, France. Electronic address: pierre-jean.lamy@labosud.fr. 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: sophie.nambot@chu-dijon.fr. Service d'urologie et de transplantation rénale, hôpital Foch, université de Versailles - Saint-Quentin-en-Yvelines, 40, rue Worth, 92150 Suresnes, France. Electronic address: y.neuzillet@hopital-foch.org. 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: solschwang@gmail.com. Service d'Urologie, Clinique Beausoleil, Montpellier, France. Electronic address: xavier.rebillard@wanadoo.fr. Department of Cancer Genetics, CHU Montpellier, Univ Montpellier, Montpellier, France. Electronic address: jm-rey@chu-montpellier.fr. Department of Cancer Genetics, CHU Montpellier, Univ Montpellier, Montpellier, France. Electronic address: c-rideau@chu-montpellier.fr. Department of Medical Oncology, Hôpital Pitié Salpêtrière, APHP, Sorbonne Université, Paris, France; Inserm UMRS 1136, Sorbonne Université, Paris, France. Electronic address: jean-philippe.spano@psl.aphp.fr. IRD, CREEC et MIVE911 avenue Agropolis, BP 64501, Montpellier 34 394, France. Electronic address: frederic.thomas2@ird.fr. Department of Pathology, Centre Léon Bérard, 28 rue Laënnec, 69373, Lyon Cédex 08, France. Electronic address: isabelle.treilleux@lyon.unicancer.fr. BRCA France Association, France. Electronic address: marion.vandromme@gmail.com. IRCM, INSERM 1194, Department of Pathology and Oncobiology, Laboratoire de biologie des tumeurs solides, CHU Montpellier, Univ Montpellier, Montpellier, France. Electronic address: j-vendrell@chu-montpellier.fr. Department of Radiotherapy, Hartmann Radiotherapy Center, Levallois-Perret, France. Electronic address: michelevintraud@live.fr. The Paris Breast Centre- L'Institut Français du Sein- 15 rue Jean Nicot, 75007, Paris, France. Electronic address: daniel.zarca@gmail.com. Division of Surgical Oncology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA. Electronic address: kshughes@partners.org. Medical Oncology Department, Hospital Nuestra Señora de Sonsoles, Ávila, Ávila, Spain. Electronic address: jealesm@yahoo.es.

European journal of cancer (Oxford, England : 1990). 2021;:30-47
Full text from:

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.

Methodological quality

Publication Type : Review

Metadata