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JCO Precis Oncol. 2018;2. doi: 10.1200/PO.18.00091. Epub 2018 Oct 26.

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.

Author information

1
The University of Chicago Center for Clinical Cancer Genetics, Chicago, IL.
2
University of Southampton, Southampton.
3
Kuwait University and Genatak Center for Genomic Medicine, Safat, Kuwait.
4
Vall d'Hebron Institute of Oncology and University Hospital of Vall d'Hebron, Barcelona.
5
University of Rome Tor Vergata.
6
Maastricht University Medical Center, Maastricht.
7
Santa Chiara University Hospital, Pisa.
8
IEO, European Institute of Oncology IRCCS.
9
University of Florence, Florence.
10
Ospedale Cremona, Azienda Socio Sanitaria Territoriale (ASST) di Cremona, Cremona.
11
Hong Kong Sanatorium and Hospital, Hong Kong, Special Administrative Region, People's Republic of China.
12
Ghent University Hospital, Ghent, Belgium.
13
University of Modena and Reggio Emilia, Modena.
14
Mayo Clinic, Rochester, MN.
15
Hospital Clinico San Carlos and Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid.
16
Toma Advanced Biomedical Assays, Busto Arsizio.
17
University of Pennsylvania, Philadelphia, PA.
18
Institute of Cancer Research and Royal Marsden National Health Service (NHS) Foundation Trust, London.
19
Athens Medical Center.
20
National Centre for Scientific Research Demokritos, Athens, Greece.
21
University of Utah School of Medicine, Salt Lake City, UT.
22
Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
23
Copenhagen University Hospital, Rigshospitalet, Copenhagen.
24
Keio University School of Medicine, Tokyo, Japan.
25
Université Paris Descartes and Unicancer Genetic Group, Paris.
26
Charles University, Prague, Czech Republic.
27
Normandy University, Cancer Center F. Baclesse, and Unicancer Genetic Group, Caen, France.
28
Catalan Institute of Oncology and CIBERONC, Barcelona.
29
Fondazione IRCCS Istituto Nazionale dei Tumori, Milan.
30
Radboud University Medical Center, Nijmegen.
31
Leiden University Medical Centre, Leiden, the Netherlands.
32
Moffitt Cancer Center, Tampa, FL.
33
University of Brescia, Brescia.
34
Prince of Wales Hospital and Community Health, Randwick, New South Wales.
35
University Hospital of Parma, Parma.
36
Odense University Hospital, Odense.
37
King Edward Memorial Hospital, Perth, Western Australia.
38
Barretos Cancer Hospital, Barretos, São Paulo, Brazil.
39
Aalborg University Hospital, Aalborg, Denmark.
40
Sapienza University of Rome and Sant'Andrea Hospital, Rome.
41
Azienda Ospedaliera di Cosenza, Cosenza.
42
Memorial Sloan Kettering Cancer Center, New York, NY.
43
Institute of Biomolecular Chemistry, National Research Council, Sassari.
44
University of Buenos Aires, Buenos Aires, Argentina.
45
Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori, IRCCS, Meldola.
46
Instituto Português de Oncologia do Porto Francisco Gentil, Porto, Portugal.
47
Ospedale di Circolo, ASST dei Sette Laghi, Varese.
48
Ohio State University, Columbus, OH.
49
Lund University, Lund, Sweden.
50
Dana-Farber Cancer Institute, Boston, MA.
51
Ospedale Policlinico San Martino IRCCS per l'Oncologia, Genoa.
52
Universidad de Santiago de Compostela, Santiago de Compostela, Spain.
53
Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom.
54
University Hospital Cologne and German Consortium of Hereditary Breast and Ovarian Cancer, Cologne, Germany.
55
City of Hope, Duarte, CA.
56
QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
57
Veneto Institute of Oncology IOV-IRCCS, Padua, Italy.

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.

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