Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group

Autor(es):Mostrar menos -

Nielsen, Sarah M. ^[1] ; Eccles, Diana M. ^[2] ; Romero, Iris L. ^[1] ; Al-Mulla, Fand ^{[3, 4]} ; Balmana, Judith ^{[5, 6]} ; Biancolella, Michela ^[7] ; Blok, Rien ^[8] ; Caligo, Maria Adelaide ^[9] ; Calvello, Mariarosaria ^[10] ; Capone, Gabriele Lorenzo ^[11] ; Cavalli, Pietro ^[12] ; Chan, T. L. Chris ^[13] ; Claes, Kathleen B. M. ^[14] ; Cortesi, Laura ^[15] ; Couch, Fergus J. ^[16] ; de la Hoya, Miguel ^{[17, 18]} ; de Toffol, Simona ^[19] ; Diez, Orland ^{[5, 6]} ; Domchek, Susan M. ^[20] ; Eeles, Ros ^{[21, 22]} ; Efremidis, Anna ^[23] ; Fostira, Florentia ^[24] ; Goldgar, David ^[25] ; Hadjisavvas, Andreas ^[26] ; Hansen, Thomas v O. ^[27] ; Hirasawa, Akira ^[28] ; Houdayer, Claude ^{[29, 30]} ; Kleiblova, Petra ^[31] ; Krieger, Sophie ^{[32, 33]} ; Lazaro, Conxi ^{[34, 35]} ; Loizidou, Maria ^[26] ; Manoukian, Siranoush ^[36] ; Mensenkamp, Arjen R. ^[37] ; Moghadasi, Setareh ^[38] ; Monteiro, Alvaro N. ^[39] ; Mori, Luigi ^[40] ; Morrow, April ^[41] ; Naldi, Nadia ^[42] ; Nielsen, Henriette R. ^[43] ; Olopade, I, Olufunmilayo ; Pachter, Nicholas S. ^[44] ; Palrnero, I, Edenir ; Pedersen, Inge S. ^[45] ; Piane, Maria ^[46] ; Puzzo, Marianna ^[47] ; Robson, Mark ^[48] ; Rossing, Maria ^[27] ; Sini, Maria Christina ^[49] ; Solano, Angela ^[50] ; Soukupova, Jana ^[31] ; Tedaldi, Gianluca ^[51] ; Teixeira, Manuel ^[52] ; Thomassen, Mads ^[43] ; Tibiletti, Maria Grazia ^[53] ; Toland, Amanda ^[54] ; Torngren, Therese ^[55] ; Vaccari, Erica ^[56] ; Varesco, Liliana ^[57] ; Vega, Ana ^[58] ; Wallis, Yvonne ^[59] ; Wappenschmidt, Barbara ^{[60, 61]} ; Weitzel, Jeffrey ^[62] ; Spurdle, Amanda B. ^[63] ; De Nicolo, Arcangela ^[64] ; Gomez-Garcia, Encarna B. ^[8]

Afiliação do(s) autor(es):Mostrar menos -

^[1] I, Univ Chicago, Ctr Clin Canc Genet, Chicago, IL 60637 - USA

^[2] Univ Southampton, Southampton, Hants - England

^[3] Kuwait Univ, Safat - Kuwait

^[4] Genatak Ctr Genom Med, Safat - Kuwait

^[5] Vail Hebron Inst Oncol, Barcelona - Spain

^[6] Univ Hosp Vail Hebron, Barcelona - Spain

^[7] Univ Roma Tor Vergata, Rome - Italy

^[8] Maastricht Univ, Med Ctr, P Debyelaan 25, NL-6229 HX Maastricht - Netherlands

^[9] Santa Chiara Univ Hosp, Pisa - Italy

^[10] IRCCS, IEO, European Inst Oncol, Milan - Italy

^[11] Univ Florence, Florence - Italy

^[12] Osped Cremona, ASST Cremona, Cremona - Italy

^[13] Hong Kong Sanat & Hosp, Special Adm Reg, Hong Kong - Peoples R China

^[14] Ghent Univ Hosp, Ghent - Belgium

^[15] Univ Modena & Reggio Emilia, Modena - Italy

^[16] Mayo Clin, Rochester, MN - USA

^[17] Hosp Clin San Carlos, Madrid - Spain

^[18] Ctr Invest Biomed Red Canc CIBERONC, Madrid - Spain

^[19] Toma Adv Biomed Assays, Busto Arsizio - Italy

^[20] Univ Penn, Philadelphia, PA 19104 - USA

^[21] Inst Canc Res, London - England

^[22] Royal Marsden Natl Hlth Serv NHS Fdn Trust, London - England

^[23] Athens Med Ctr, Athens - Greece

^[24] Natl Ctr Sci Res Demokritos, Athens - Greece

^[25] Univ Utah, Sch Med, Salt Lake City, UT - USA

^[26] Cyprus Inst Neurol & Genet, Nicosia - Cyprus

^[27] Copenhagen Univ Hosp, Rigshosp, Copenhagen - Denmark

^[28] Keio Univ, Sch Med, Tokyo - Japan

^[29] Univ Paris 05, Paris - France

^[30] Unicanc Genet Grp, Paris - France

^[31] Charles Univ Prague, Prague - Czech Republic

^[32] Normandy Univ, Canc Ctr F Baclesse, Caen - France

^[33] Unicanc Genet Grp, Caen - France

^[34] Catalan Inst Oncol, Barcelona - Spain

^[35] CIBERONC, Barcelona - Spain

^[36] Fdn IRCCS Ist Nazl Tumori, Milan - Italy

^[37] Radboud Univ Nijmegen, Med Ctr, Nijmegen - Netherlands

^[38] Leiden Univ, Med Ctr, Leiden - Netherlands

^[39] H Lee Moffitt Canc Ctr & Res Inst, Tampa, FL - USA

^[40] Univ Brescia, Brescia - Italy

^[41] Prince Wales Hosp & Community Hlth, Randwick, NSW - Australia

^[42] Univ Hosp Parma, Parma - Italy

^[43] Odense Univ Hosp, Odense - Denmark

^[44] King Edward Mem Hosp, Perth, WA - Australia

^[45] Aalborg Univ Hosp, Aalborg - Denmark

^[46] Sapienza Univ Rome & SantAndrea, Rome - Italy

^[47] Azienda Osped Cosenza, Cosenza - Italy

^[48] Mem Sloan Kettering Canc Ctr, 1275 York Ave, New York, NY 10021 - USA

^[49] CNR, Inst Biomol Chem, Sassari - Italy

^[50] Univ Buenos Aires, Buenos Aires, DF - Argentina

^[51] IRCCS, Ist Scientif Romagnolo Studio & Cura Tumori, Meldola - Italy

^[52] Inst Portugues Oncol Porto Francisco Gentil, Porto - Portugal

^[53] ASST Setle Laghi, Osped Circolo, Varese - Italy

^[54] Ohio State Univ, Columbus, OH - USA

^[55] Lund Univ, Lund - Sweden

^[56] Dana Farber Canc Inst, Boston, MA 02115 - USA

^[57] Osped Policlin San Martino, IRCCS Oncol, Genoa - Italy

^[58] Univ Santiago Compostela, Santiago De Compostela - Spain

^[59] Womens & Childrens NHS Fdn Trust, Birmingham, W Midlands - England

^[60] Univ Hosp Cologne, Cologne - Germany

^[61] German Consortium Hereditary Breast & Ovarian Can, Cologne - Germany

^[62] City Hope Natl Med Ctr, Duarte, CA - USA

^[63] QIMR Berghofer Med Res Inst, Brisbane, Qld - Australia

^[64] IRCCS, Veneto Inst Oncol IOV, Padua - Italy

• Tipo de documento: Artigo Científico
• Fonte: JCO PRECISION ONCOLOGY; v. 2, OCT 26 2018.
• Citações Web of Science: 1

Resumo

Purpose To describe a snapshot of international genetic testing practices, specifically regarding the use of multigene panels, for hereditary breast/ovarian cancers. We conducted a survey through the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) consortium, covering questions about 16 non-BRCA1/2 genes. Methods Data were collected via in-person and paper/electronic surveys. ENIGMA members from around the world were invited to participate. Additional information was collected via country networks in the United Kingdom and in Italy. Results Responses from 61 cancer genetics practices across 20 countries showed that 16 genes were tested by > 50% of the centers, but only six (PALB2, TP53, PTEN, CHEK2, ATM, and BRIP1) were tested regularly. US centers tested the genes most often, whereas United Kingdom and Italian centers with no direct ENIGMA affiliation at the time of the survey were the least likely to regularly test them. Most centers tested the 16 genes through multigene panels; some centers tested TP53, PTEN, and other cancer syndrome-associated genes individually. Most centers reported (likely) pathogenic variants to patients and would test family members for such variants. Gene-specific guidelines for breast and ovarian cancer risk management were limited and differed among countries, especially with regard to starting age and type of imaging and risk-reducing surgery recommendations. Conclusion Currently, a small number of genes beyond BRCA1/2 are routinely analyzed worldwide, and management guidelines are limited and largely based on expert opinion. To attain clinical implementation of multigene panel testing through evidence-based management practices, it is paramount that clinicians (and patients) participate in international initiatives that share panel testing data, interpret sequence variants, and collect prospective data to underpin risk estimates and evaluate the outcome of risk intervention strategies. (C) 2018 by American Society of Clinical Oncology (AU)

• Processo FAPESP: 13/24633-2 - Caracterização molecular de famílias de alto risco para câncer de mama hereditário, negativas para mutações nos genes BRCA1/BRCA2: à procura do BRCAx
• Beneficiário: Edenir Inêz Palmero
• Modalidade de apoio: Auxílio à Pesquisa - Regular