Format

Send to

Choose Destination
Breast Cancer Res. 2016 Feb 9;18(1):15. doi: 10.1186/s13058-016-0671-y.

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.

Silvestri V1, Barrowdale D2, Mulligan AM3,4, Neuhausen SL5, Fox S6, Karlan BY7, Mitchell G8,9, James P10,11, Thull DL12, Zorn KK13, Carter NJ14, Nathanson KL15, Domchek SM16, Rebbeck TR17, Ramus SJ18, Nussbaum RL19, Olopade OI20, Rantala J21, Yoon SY22,23, Caligo MA24, Spugnesi L25, Bojesen A26, Pedersen IS27, Thomassen M28, Jensen UB29, Toland AE30, Senter L31, Andrulis IL32,33,34, Glendon G35, Hulick PJ36, Imyanitov EN37, Greene MH38, Mai PL39, Singer CF40, Rappaport-Fuerhauser C41, Kramer G42, Vijai J43, Offit K44, Robson M45, Lincoln A46, Jacobs L47, Machackova E48, Foretova L49, Navratilova M50, Vasickova P51, Couch FJ52,53, Hallberg E54, Ruddy KJ55, Sharma P56, Kim SW57; kConFab Investigators, Teixeira MR58,59, Pinto P60, Montagna M61, Matricardi L62, Arason A63, Johannsson OT64, Barkardottir RB65, Jakubowska A66, Lubinski J67, Izquierdo A68, Pujana MA69, Balmaña J70, Diez O71, Ivady G72, Papp J73, Olah E74, Kwong A75,76; Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), Nevanlinna H77, Aittomäki K78, Perez Segura P79, Caldes T80, Van Maerken T81, Poppe B82, Claes KB83, Isaacs C84, Elan C85, Lasset C86,87, Stoppa-Lyonnet D88,89, Barjhoux L90, Belotti M91, Meindl A92, Gehrig A93, Sutter C94, Engel C95, Niederacher D96, Steinemann D97, Hahnen E98, Kast K99, Arnold N100, Varon-Mateeva R101, Wand D102, Godwin AK103, Evans DG104, Frost D105, Perkins J106, Adlard J107, Izatt L108, Platte R109, Eeles R110, Ellis S111; EMBRACE, Hamann U112, Garber J113, Fostira F114, Fountzilas G115, Pasini B116,117, Giannini G118, Rizzolo P119, Russo A120, Cortesi L121, Papi L122, Varesco L123, Palli D124, Zanna I125, Savarese A126, Radice P127, Manoukian S128, Peissel B129, Barile M130, Bonanni B131, Viel A132, Pensotti V133,134, Tommasi S135, Peterlongo P136, Weitzel JN137, Osorio A138,139, Benitez J140,141,142, McGuffog L143, Healey S144, Gerdes AM145, Ejlertsen B146, Hansen TV147, Steele L148, Ding YC149, Tung N150, Janavicius R151, Goldgar DE152, Buys SS153, Daly MB154, Bane A155, Terry MB156, John EM157, Southey M158, Easton DF159, Chenevix-Trench G160, Antoniou AC161, Ottini L162.

Author information

1
Department of Molecular Medicine, Sapienza University of Rome, Viale Regina Elena, 324, 00161, Rome, Italy. valentina.silvestri@uniroma1.it.
2
Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, School of Clinical Medicine, University of Cambridge, Cambridge, UK. daniel@srl.cam.ac.uk.
3
Laboratory Medicine Program, University Health Network, Toronto, ON, Canada. annamarie.mulligan@uhn.ca.
4
Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada. annamarie.mulligan@uhn.ca.
5
Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, USA. sneuhausen@coh.org.
6
Peter MacCallum Cancer Institute, East Melbourne, Australia. stephen.fox@petermac.org.
7
Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA. beth.karlan@cshs.org.
8
Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, Australia. gillian.mitchell@petermac.org.
9
Department of Oncology, The University of Melbourne, Melbourne, VIC, Australia. gillian.mitchell@petermac.org.
10
Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, Australia. paul.james@petermac.org.
11
Department of Oncology, The University of Melbourne, Melbourne, VIC, Australia. paul.james@petermac.org.
12
University of Pittsburgh School of Medicine, Pittsburgh, PA, USA. dthull@magee.edu.
13
University of Pittsburgh School of Medicine, Pittsburgh, PA, USA. kkzorn@uams.edu.
14
UPMC Cancer Center, Pittsburgh, PA, USA. engeln@upmc.edu.
15
Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at The University of Pennsylvania, Philadelphia, PA, USA. knathans@exchange.upenn.edu.
16
Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at The University of Pennsylvania, Philadelphia, PA, USA. susan.domchek@uphs.upenn.edu.
17
Department of Epidemiology and Biostatistics, Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. rebbeck@exchange.upenn.edu.
18
Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, CA, USA. sramus@usc.edu.
19
Department of Medicine and Genetics, University of California, San Francisco, San Francisco, CA, USA. nussbaumr@humgen.ucsf.edu.
20
Center for Clinical Cancer Genetics and Global Health, University of Chicago Medical Center, Chicago, IL, USA. folopade@medicine.bsd.uchicago.edu.
21
Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. johanna.rantala@karolinska.se.
22
Cancer Research Initiatives Foundation, Sime Darby Medical Centre, Subang Jaya, Malaysia. sookyee.yoon@carif.com.my.
23
University Malaya Cancer Research Institute, Faculty of Medicine, University Malaya Medical Centre, University Malaya, Kuala Lumpur, Malaysia. sookyee.yoon@carif.com.my.
24
Section of Genetic Oncology, Department of Laboratory Medicine, University of Pisa and University Hospital of Pisa, Pisa, Italy. adelaide.caligo@do.unipi.it.
25
Section of Genetic Oncology, Department of Laboratory Medicine, University of Pisa and University Hospital of Pisa, Pisa, Italy. laura.spugnesi@gmail.com.
26
Department of Clinical Genetics, Vejle Hospital, Vejle, Denmark. anders.bojesen@slb.regionsyddanmark.dk.
27
Section of Molecular Diagnostics, Department of Biochemistry, Aalborg University Hospital, Aalborg, Denmark. isp@rn.dk.
28
Department of Clinical Genetics, Odense University Hospital, Odense C, Denmark. mads.thomassen@rsyd.dk.
29
Department of Clinical Genetics, Aarhus University Hospital, Aarhus N, Denmark. uffejens@rm.dk.
30
Department of Molecular Virology, Immunology and Medical Genetics, College of Medicine, The Ohio State University, Columbus, OH, USA. amanda.toland@osumc.edu.
31
Division of Human Genetics, Department of Internal Medicine, The Comprehensive Cancer Center, The Ohio State University, Columbus, OH, USA. leigha.senter@osumc.edu.
32
Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada. andrulis@lunenfeld.ca.
33
Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, ON, Canada. andrulis@lunenfeld.ca.
34
Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. andrulis@lunenfeld.ca.
35
Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, ON, Canada. gord.glendon@cancercare.on.ca.
36
Center for Medical Genetics, North Shore University Health System, Evanston, IL, USA. phulick@northshore.org.
37
N.N. Petrov Institute of Oncology, St. Petersburg, Russia. evgeny@imyanitov.spb.ru.
38
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD, USA. greenem@mail.nih.gov.
39
Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD, USA. maip@mail.nih.gov.
40
Department of Obstetrics and Gynecology, Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria. christian.singer@meduniwien.ac.at.
41
Department of Obstetrics and Gynecology, Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria. christine.rappaport@akhwien.at.
42
Department of Urology, Medical University of Vienna, Vienna, Austria. gero.kramer@meduniwien.ac.at.
43
Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY, USA. josephv@mskcc.org.
44
Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY, USA. offitk@mskcc.org.
45
Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY, USA. robsonm@mskcc.org.
46
Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY, USA. lincolna@mskcc.org.
47
Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY, USA. jacobsl@mskcc.org.
48
Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic. emachack@mou.cz.
49
Masaryk Memorial Cancer Institute and Faculty of Medicine, Masaryk University, Brno, Czech Republic. foretova@mou.cz.
50
Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic. mnavrati@mou.cz.
51
Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic. vasickova@mou.cz.
52
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA. couch.fergus@mayo.edu.
53
Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA. couch.fergus@mayo.edu.
54
Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA. hallberg.emily@mayo.edu.
55
Department of Oncology, Mayo Clinic, Rochester, MN, USA. ruddy.kathryn@mayo.edu.
56
Department of Hematology and Oncology, University of Kansas Medical Center, Kansas City, KS, USA. psharma2@kumc.edu.
57
Department of Surgery, Daerim St. Mary's Hospital, Seoul, Korea. brcakorea@gmail.com.
58
Department of Genetics, Portuguese Institute of Oncology, Porto, Portugal. manuel.teixeira@ipoporto.min-saude.pt.
59
Biomedical Sciences Institute (ICBAS), University of Porto, Porto, Portugal. manuel.teixeira@ipoporto.min-saude.pt.
60
Department of Genetics, Portuguese Institute of Oncology, Porto, Portugal. pedro.pinto@ipoporto.min-saude.pt.
61
Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV - IRCCS (Scientific Institute of Hospitalization and Care), Padua, Italy. montagna@unipd.it.
62
Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV - IRCCS (Scientific Institute of Hospitalization and Care), Padua, Italy. laura.matricardi@ioveneto.it.
63
Department of Pathology, Landspitali University Hospital and Biomedical Centre (BMC), Faculty of Medicine, University of Iceland, Reykjavik, Iceland. adalgeir@landspitali.is.
64
Department of Oncology, Landspitali University Hospital and Faculty of Medicine, University of Iceland, Reykjavik, Iceland. oskarjoh@landspitali.is.
65
Department of Pathology, Landspitali University Hospital and Biomedical Centre (BMC), Faculty of Medicine, University of Iceland, Reykjavik, Iceland. rosa@landspitali.is.
66
Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland. aniaj@pum.edu.pl.
67
Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland. lubinski@pum.edu.pl.
68
Genetic Counseling Unit, Hereditary Cancer Program, Biomedical Research Institute of Girona (IDIBGI), Catalan Institute of Oncology, Girona, Spain. aizquierdo@iconcologia.net.
69
Breast Cancer and Systems Biology Unit, Bellvitge Biomedical Research Institute (IDIBELL), Catalan Institute of Oncology, Barcelona, Spain. mapujana@iconcologia.net.
70
Department of Medical Oncology, Vall d'Hebron University Hospital, Barcelona, Spain. jbalmana@vhebron.net.
71
Oncogenetics Group, Vall d'Hebron University Hospital, Vall d'Hebron Institute of Oncology (VHIO) and Universitat Autònoma de Barcelona, Barcelona, Spain. odiez@vhebron.net.
72
Department of Pathology, National Institute of Oncology, Budapest, Hungary. ivadygabi@oncol.hu.
73
Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary. janos.papp@oncol.hu.
74
Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary. e.olah@oncol.hu.
75
The Hong Kong Hereditary Breast Cancer Family Registry, Cancer Genetics Center, Hong Kong Sanatorium and Hospital, Hong Kong, China. akwong@asiabreastregistry.com.
76
Department of Surgery, The University of Hong Kong, Hong Kong, China. akwong@asiabreastregistry.com.
77
Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland. heli.nevanlinna@hus.fi.
78
Department of Clinical Genetics, University of Helsinki and Helsinki University Hospital, Helsinki, Finland. kristiina.aittomaki@hus.fi.
79
Department of Oncology, San Carlos Clinical Hospital Health Research Institute (IdISSC), San Carlos Clinical Hospital, Madrid, Spain. pperez.hcsc@salud.madrid.org.
80
Molecular Oncology Laboratory, San Carlos Clinical Hospital Health Research Institute (IdISSC), San Carlos Clinical Hospital, Madrid, Spain. trinidad.caldes@salud.madrid.org.
81
Center for Medical Genetics, Ghent University, Ghent, Belgium. tom.vanmaerken@ugent.be.
82
Center for Medical Genetics, Ghent University, Ghent, Belgium. bruce.poppe@ugent.be.
83
Center for Medical Genetics, Ghent University, Ghent, Belgium. Kathleen.Claes@UGent.be.
84
Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC, USA. isaacsc@georgetown.edu.
85
Department of Tumour Biology, Institut Curie, Paris, France. camille.elan@curie.net.
86
CNRS UMR5558, Université Lyon 1, Lyon, France. christine.lasset@lyon.unicancer.fr.
87
Unité de Prévention et d'Epidémiologie Génétique, Centre Léon Bérard, Lyon, France. christine.lasset@lyon.unicancer.fr.
88
Department of Tumour Biology, Institut Curie, Paris, France. dominique.stoppa-lyonnet@curie.net.
89
Université Paris Descartes, Sorbonne Paris Cité, Paris, France. dominique.stoppa-lyonnet@curie.net.
90
INSERM U1052, CNRS UMR5286, Centre de Recherche en Cancérologie de Lyon, Université Lyon, Lyon, France. laure.barjhoux@lyon.unicancer.fr.
91
Department of Tumour Biology, Institut Curie, Paris, France. muriel.belotti@curie.net.
92
Department of Gynaecology and Obstetrics, Technical University of Munich, Munich, Germany. alfons.meindl@lrz.tu-muenchen.de.
93
Institute of Human Genetics, University of Wurzburg, Wurzburg, Germany. gehrig@biozentrum.uni-wuerzburg.de.
94
Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany. c.sutter@med.uni-heidelberg.de.
95
Institute for Medical Informatics, Statistics and Epidemiology University of Leipzig, Leipzig, Germany. christoph.engel@imise.uni-leipzig.de.
96
University of Dusseldorf, Dusseldorf, Germany. niederac@uni-duesseldorf.de.
97
Hannover Medical School, Hannover, Germany. steinemann.doris@mh-hannover.de.
98
Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO) and Center for Molecular Medicine Cologne (CMMC), Medical Faculty, University of Cologne and University Hospital Cologne, Cologne, Germany. eric.hahnen@uk-koeln.de.
99
Department of Gynecology and Obstetrics, Technical University of Dresden, Dresden, Germany. karin.kast@uniklinikum-dresden.de.
100
Department of Gynaecolgy and Obstetrics, University Hospital of Schleswig-Holstein, Christian-Albrechts-University of Kiel, Kiel, Germany. norbert.arnold@uksh.de.
101
Institute of Human Genetics, Charité, Berlin, Germany. raymonda.varon-mateeva@charite.de.
102
Institute of Human Genetics, Leipzig, Germany. dorothea.wand@medizin.uni-leipzig.de.
103
Department of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, KS, USA. agodwin@kumc.edu.
104
Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK. gareth.evans@cmft.nhs.uk.
105
Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, School of Clinical Medicine, University of Cambridge, Cambridge, UK. djsf2@medschl.cam.ac.uk.
106
Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, School of Clinical Medicine, University of Cambridge, Cambridge, UK. jp410@medschl.cam.ac.uk.
107
Yorkshire Regional Genetics Service, Leeds, UK. julian.adlard@leedsth.nhs.uk.
108
Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK. louise.izatt@gstt.nhs.uk.
109
Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, Sutton, UK. rp356@medschl.cam.ac.uk.
110
Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany. rosalind.eeles@icr.ac.uk.
111
Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, School of Clinical Medicine, University of Cambridge, Cambridge, UK. steve@srl.cam.ac.uk.
112
Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany. u.hamann@dkfz-heidelberg.de.
113
Cancer Risk and Prevention Clinic, Dana-Farber Cancer Institute, Boston, MA, USA. judy_garber@dfci.harvard.edu.
114
Molecular Diagnostics Laboratory, Institute of Nuclear and Radiological Sciences and Technology (INRASTES), National Centre for Scientific Research "Demokritos", Aghia Paraskevi Attikis, Athens, Greece. florentia@rrp.demokritos.gr.
115
Department of Medical Oncology, Papageorgiou Hospital, Aristotle University of Thessaloniki School of Medicine, Thessaloniki, Greece. fountzil@auth.gr.
116
Department of Medical Science, University of Turin, Turin, Italy. barbara.pasini@unito.it.
117
AO Città della Salute e della Scienza, Turin, Italy. barbara.pasini@unito.it.
118
Department of Molecular Medicine, Sapienza University of Rome, Viale Regina Elena, 324, 00161, Rome, Italy. giuseppe.giannini@uniroma1.it.
119
Department of Molecular Medicine, Sapienza University of Rome, Viale Regina Elena, 324, 00161, Rome, Italy. piera.rizzolo@uniroma1.it.
120
Section of Medical Oncology, Department of Surgical and Oncological Sciences, University of Palermo, Palermo, Italy. lab-oncobiologia@usa.net.
121
Department of Oncology and Haematology, University of Modena and Reggio Emilia, Modena, Italy. hbc@unimore.it.
122
Unit of Medical Genetics, Department of Biomedical, Experimental and Clinical Sciences, University of Florence, Florence, Italy. laura.papi@unifi.it.
123
Unit of Hereditary Cancer, Department of Epidemiology, Prevention and Special Functions, IRCCS (Scientific Institute of Hospitalization and Care), AOU San Martino - IST National Institute for Cancer Research, Genoa, Italy. liliana.varesco@hsanmartino.it.
124
Molecular and Nutritional Epidemiology Unit, Cancer Research and Prevention Institute (ISPO), Florence, Italy. d.palli@ispo.toscana.it.
125
Molecular and Nutritional Epidemiology Unit, Cancer Research and Prevention Institute (ISPO), Florence, Italy. i.zanna@ispo.toscana.it.
126
Unit of Genetic Counselling, Medical Oncology Department, Regina Elena National Cancer Institute, Rome, Italy. savarese@ifo.it.
127
Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, IRCCS (Scientific Institute of Hospitalization and Care), National Cancer Institute (INT), 20133, Milan, Italy. paolo.radice@istitutotumori.mi.it.
128
Unit of Medical Genetics, Department of Preventive and Predictive Medicine, IRCCS (Scientific Institute of Hospitalization and Care), National Cancer Institute (INT), Milan, Italy. siranoush.manoukian@istitutotumori.mi.it.
129
Unit of Medical Genetics, Department of Preventive and Predictive Medicine, IRCCS (Scientific Institute of Hospitalization and Care), National Cancer Institute (INT), Milan, Italy. bernard.peissel@istitutotumori.mi.it.
130
Division of Cancer Prevention and Genetics, European Institute of Oncology (IEO), Milan, Italy. monica.barile@ieo.it.
131
Division of Cancer Prevention and Genetics, European Institute of Oncology (IEO), Milan, Italy. bernardo.bonanni@ieo.it.
132
Division of Experimental Oncology, CRO Aviano National Cancer Institute, Aviano, PN, Italy. aviel@cro.it.
133
IFOM, FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology, Milan, Italy. valeria.pensotti@ifom.eu.
134
Cogentech Cancer Genetic Test Laboratory, Milan, Italy. valeria.pensotti@ifom.eu.
135
National Cancer Institute "Giovanni Paolo II", Bari, Italy. s.tommasi@oncologico.bari.it.
136
IFOM, FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology, Milan, Italy. paolo.peterlongo@ifom.eu.
137
Clinical Cancer Genetics, City of Hope Clinical Cancer Genetics Community Research Network, Duarte, CA, USA. jweitzel@coh.org.
138
Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Centre (CNIO), Madrid, Spain. aosorio@cnio.es.
139
Biomedical Network on Rare Diseases (CIBERER), Madrid, Spain. aosorio@cnio.es.
140
Biomedical Network on Rare Diseases (CIBERER), Madrid, Spain. jbenitez@cnio.es.
141
Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain. jbenitez@cnio.es.
142
Human Genotyping (CEGEN) Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid, Spain. jbenitez@cnio.es.
143
Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, School of Clinical Medicine, University of Cambridge, Cambridge, UK. lesley@srl.cam.ac.uk.
144
Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, Australia. sue.healey@qimrberghofer.edu.au.
145
Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark. anne-marie.gerdes@regionh.dk.
146
Department of Oncology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark. bent.ejlertsen@regionh.dk.
147
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark. tvoh@rh.dk.
148
Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, USA. lsteele@coh.org.
149
Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, USA. ycding@coh.org.
150
Department of Medical Oncology, Beth Israel Deaconess Medical Center, Boston, MA, USA. ntung@bidmc.harvard.edu.
151
State Research Institute Centre for Innovative Medicine, Vilnius, Lithuania. ramunas.janavicius@santa.lt.
152
Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT, USA. david.goldgar@hsc.utah.edu.
153
Department of Medicine, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT, USA. saundra.buys@hci.utah.edu.
154
Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, PA, USA. mary.daly@fccc.edu.
155
Department of Pathology & Molecular Medicine, Juravinski Hospital and Cancer Centre, McMaster University, Hamilton, ON, Canada. bane@hhsc.ca.
156
Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, USA. mt146@cumc.columbia.edu.
157
Department of Epidemiology, Cancer Prevention Institute of California, Fremont, CA, USA. esther.john@cpic.org.
158
Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Parkville, Australia. msouthey@unimelb.edu.au.
159
Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, School of Clinical Medicine, University of Cambridge, Cambridge, UK. douglas@srl.cam.ac.uk.
160
Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, Australia. georgia.trench@qimrberghofer.edu.au.
161
Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, School of Clinical Medicine, University of Cambridge, Cambridge, UK. antonis@srl.cam.ac.uk.
162
Department of Molecular Medicine, Sapienza University of Rome, Viale Regina Elena, 324, 00161, Rome, Italy. laura.ottini@uniroma1.it.

Abstract

BACKGROUND:

BRCA1 and, more commonly, BRCA2 mutations are associated with increased risk of male breast cancer (MBC). However, only a paucity of data exists on the pathology of breast cancers (BCs) in men with BRCA1/2 mutations. Using the largest available dataset, we determined whether MBCs arising in BRCA1/2 mutation carriers display specific pathologic features and whether these features differ from those of BRCA1/2 female BCs (FBCs).

METHODS:

We characterised the pathologic features of 419 BRCA1/2 MBCs and, using logistic regression analysis, contrasted those with data from 9675 BRCA1/2 FBCs and with population-based data from 6351 MBCs in the Surveillance, Epidemiology, and End Results (SEER) database.

RESULTS:

Among BRCA2 MBCs, grade significantly decreased with increasing age at diagnosis (P = 0.005). Compared with BRCA2 FBCs, BRCA2 MBCs were of significantly higher stage (P for trend = 2 × 10(-5)) and higher grade (P for trend = 0.005) and were more likely to be oestrogen receptor-positive [odds ratio (OR) 10.59; 95 % confidence interval (CI) 5.15-21.80] and progesterone receptor-positive (OR 5.04; 95 % CI 3.17-8.04). With the exception of grade, similar patterns of associations emerged when we compared BRCA1 MBCs and FBCs. BRCA2 MBCs also presented with higher grade than MBCs from the SEER database (P for trend = 4 × 10(-12)).

CONCLUSIONS:

On the basis of the largest series analysed to date, our results show that BRCA1/2 MBCs display distinct pathologic characteristics compared with BRCA1/2 FBCs, and we identified a specific BRCA2-associated MBC phenotype characterised by a variable suggesting greater biological aggressiveness (i.e., high histologic grade). These findings could lead to the development of gender-specific risk prediction models and guide clinical strategies appropriate for MBC management.

PMID:
26857456
PMCID:
PMC4746828
DOI:
10.1186/s13058-016-0671-y
[Indexed for MEDLINE]
Free PMC Article

MeSH terms, Substances, Grant support

MeSH terms

Substances

Grant support

Supplemental Content

Full text links

Icon for BioMed Central Icon for PubMed Central
Loading ...
Support Center