Nielsen, Sarah M., Eccles, Diana M., Romero, Iris L., Al-Mulla, Fand, Balmana, Judith, Biancolella, Michela, Blok, Rien, Caligo, Maria Adelaide, Calvello, Mariarosaria ORCID: 0000-0003-2113-8503, Capone, Gabriele Lorenzo, Cavalli, Pietro, Chan, T. L. Chris, Claes, Kathleen B. M., Cortesi, Laura, Couch, Fergus J., de la Hoya, Miguel, de Toffol, Simona, Diez, Orland, Domchek, Susan M., Eeles, Ros, Efremidis, Anna, Fostira, Florentia, Goldgar, David, Hadjisavvas, Andreas, Hansen, Thomas v O., Hirasawa, Akira, Houdayer, Claude, Kleiblova, Petra, Krieger, Sophie, Lazaro, Conxi, Loizidou, Maria, Manoukian, Siranoush, Mensenkamp, Arjen R., Moghadasi, Setareh, Monteiro, Alvaro N., Mori, Luigi, Morrow, April, Naldi, Nadia, Nielsen, Henriette R., Olopade, Olufunmilayo, I, Pachter, Nicholas S., Palrnero, Edenir, I, Pedersen, Inge S., Piane, Maria, Puzzo, Marianna, Robson, Mark, Rossing, Maria, Sini, Maria Christina, Solano, Angela, Soukupova, Jana, Tedaldi, Gianluca ORCID: 0000-0003-0540-6694, Teixeira, Manuel ORCID: 0000-0002-4896-5982, Thomassen, Mads, Tibiletti, Maria Grazia, Toland, Amanda, Torngren, Therese, Vaccari, Erica, Varesco, Liliana ORCID: 0000-0003-4871-6668, Vega, Ana, Wallis, Yvonne, Wappenschmidt, Barbara, Weitzel, Jeffrey, Spurdle, Amanda B., De Nicolo, Arcangela ORCID: 0000-0002-7275-5571 and Gomez-Garcia, Encarna B. (2018). 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. JCO Precis. Oncol., 2. ALEXANDRIA: AMER SOC CLINICAL ONCOLOGY. ISSN 2473-4284

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Abstract

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

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Nielsen, Sarah M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Eccles, Diana M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Romero, Iris L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Al-Mulla, FandUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Balmana, JudithUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Biancolella, MichelaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Blok, RienUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Caligo, Maria AdelaideUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Calvello, MariarosariaUNSPECIFIEDorcid.org/0000-0003-2113-8503UNSPECIFIED
Capone, Gabriele LorenzoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cavalli, PietroUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chan, T. L. ChrisUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Claes, Kathleen B. M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cortesi, LauraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Couch, Fergus J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
de la Hoya, MiguelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
de Toffol, SimonaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Diez, OrlandUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Domchek, Susan M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Eeles, RosUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Efremidis, AnnaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fostira, FlorentiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Goldgar, DavidUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hadjisavvas, AndreasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hansen, Thomas v O.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hirasawa, AkiraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Houdayer, ClaudeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kleiblova, PetraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Krieger, SophieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lazaro, ConxiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Loizidou, MariaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Manoukian, SiranoushUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mensenkamp, Arjen R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Moghadasi, SetarehUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Monteiro, Alvaro N.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mori, LuigiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Morrow, AprilUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Naldi, NadiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nielsen, Henriette R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Olopade, Olufunmilayo, IUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pachter, Nicholas S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Palrnero, Edenir, IUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pedersen, Inge S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Piane, MariaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Puzzo, MariannaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Robson, MarkUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rossing, MariaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sini, Maria ChristinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Solano, AngelaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Soukupova, JanaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tedaldi, GianlucaUNSPECIFIEDorcid.org/0000-0003-0540-6694UNSPECIFIED
Teixeira, ManuelUNSPECIFIEDorcid.org/0000-0002-4896-5982UNSPECIFIED
Thomassen, MadsUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tibiletti, Maria GraziaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Toland, AmandaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Torngren, ThereseUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Vaccari, EricaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Varesco, LilianaUNSPECIFIEDorcid.org/0000-0003-4871-6668UNSPECIFIED
Vega, AnaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wallis, YvonneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wappenschmidt, BarbaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Weitzel, JeffreyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Spurdle, Amanda B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
De Nicolo, ArcangelaUNSPECIFIEDorcid.org/0000-0002-7275-5571UNSPECIFIED
Gomez-Garcia, Encarna B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-168976
DOI: 10.1200/PO.18.00091
Journal or Publication Title: JCO Precis. Oncol.
Volume: 2
Date: 2018
Publisher: AMER SOC CLINICAL ONCOLOGY
Place of Publication: ALEXANDRIA
ISSN: 2473-4284
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
HEREDITARY BREAST; INHERITED MUTATIONS; GENOMIC CAPTURE; OVARIAN; PANEL; RISK; PREDISPOSITION; CLASSIFICATION; GUIDELINES; FAMILIESMultiple languages
OncologyMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/16897

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