Implementation of preventive and predictive BRCA testing in patients with breast, ovarian, pancreatic, and prostate cancer: a position paper of Italian Scientific Societies ☆

ESMO Open

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A. Russo¹  L. Incorvaia¹  E. Capoluongo²  P. Tagliaferri⁴  S. Gori⁵  L. Cortesi⁶  M. Genuardi⁷  D. Turchetti⁹  U. De Giorgi^1,11  M. Di Maio^1,12  M. Barberis^1,13  M. Dessena^1,14  M. Del Re^1,15  A. Lapini^1,16  C. Luchini^1,17  B.A. Jereczek-Fossa^1,19  A. Sapino^2,21  S. Cinieri^2,23 

[1] Department of Surgical, Oncological and Oral Sciences, Section of Medical Oncology, University of Palermo;Department of Molecular Medicine and Medical Biotechnology, "Federico II" University of Naples;Department of Clinical Pathology- Cannizzaro Hospital;Medical and Translational Oncology Unit, Department of Experimental and Clinical Medicine, Magna Graecia University;Department of Oncology, IRCCS Ospedale Sacro Cuore Don Calabria;Department of Oncology and Hematology, Azienda Ospedaliero-Universitaria di Modena;University Hospital Foundation “A. Gemelli”;Section of Genomic Medicine, Department of Life Sciences and Public Health, Catholic University Sacro Cuore;Department of Medical and Surgical Sciences, Center for Studies on Hereditary Cancer, University of Bologna;Unit of Medical Genetics, IRCCS Azienda Ospedaliero-Universitaria of Bologna;Department of Medical Oncology, IRCCS Istituto Romagnolo per lo Studio dei Tumori;Department of Oncology, University of Turin, Division of Medical Oncology, Ordine Mauriziano Hospital;Unit of Histopathology and Molecular Diagnostics, Division of Pathology and Laboratory Medicine, IEO, European Institute of Oncology;S.C. Experimental Surgery, Oncology Hospital, Brotzu Hospital;Unit of Clinical Pharmacology and Pharmacogenetics, Department of Clinical and Experimental Medicine, University Hospital of Pisa;Department of Urology, University of Florence, University Hospital of Florence;Department of Diagnostics and Public Health, Section of Pathology, University and Hospital Trust of Verona;ARC-Net Research Center, University and Hospital Trust of Verona;Division of Radiation Oncology, IEO, European Institute of Oncology IRCCS;Department of Oncology and Hemato-oncology, University of Milan;Candiolo Cancer Institute;Department of Medical Sciences, University of Torino;Medical Oncology Division and Breast Unit, Senatore Antonio Perrino Hospital

关键词: BRCA-related cancer;    BRCA testing;    BRCA1;    BRCA2;    genetic counseling;    PARP inhibitors;    pancreatic ductal adenocarcinoma;   

DOI  :  10.1016/j.esmoop.2022.100459

学科分类：社会科学、人文和艺术（综合）

来源: BMJ Publishing Group

【 摘 要 】

Constitutional BRCA1/BRCA2 pathogenic or likely pathogenic variants (PVs) are associated with an increased risk for developing breast and ovarian cancers. Current evidence indicates that BRCA1/2 PVs are also associated with pancreatic cancer, and that BRCA2 PVs are associated with prostate cancer risk. The identification of carriers of constitutional PVs in the BRCA1/2 genes allows the implementation of individual and family prevention pathways, through validated screening programs and risk-reducing strategies. According to the relevant and increasing therapeutic predictive implications, the inclusion of BRCA testing in the routine management of patients with breast, ovarian, pancreatic and prostate cancers represent a key requirement to optimize medical or surgical therapeutic and prevention decision-making, and access to specific anticancer therapies. Therefore, accurate patient selection, the use of standardized and harmonized procedures, and adherence to homogeneous testing criteria, are essential elements to implement BRCA testing in clinical practice.This consensus position paper has been developed and approved by a multidisciplinary Expert Panel of 64 professionals on behalf of the AIOM–AIRO–AISP–ANISC–AURO–Fondazione AIOM–SIAPEC/IAP–SIBioC–SICO–SIF–SIGE–SIGU–SIU–SIURO–UROP Italian Scientific Societies, and a patient association (aBRCAdaBRA Onlus). The working group included medical, surgical and radiation oncologists, medical and molecular geneticists, clinical molecular biologists, surgical and molecular pathologists, organ specialists such as gynecologists, gastroenterologists and urologists, and pharmacologists. The manuscript is based on the expert consensus and reports the best available evidence, according to the current eligibility criteria for BRCA testing and counseling, it also harmonizes with current Italian National Guidelines and Clinical Recommendations.

【 授权许可】

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