Publication details

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

Authors	SILVESTRI Valentina BARROWDALE Daniel MULLIGAN Anna Marie NEUHAUSEN Susan L. FOX Stephen KARLAN Beth Y. MITCHELL Gillian JAMES Paul THULL Darcy L. ZORN Kristin K. CARTER Natalie J. NATHANSON Katherine L. DORNCHEK Susan M. REBBECK Timothy R. RAMUS Susan J. NUSSBAUM Robert L. OLOPADE Olufunmilayo I. RANTALA Johanna YOON Sook-Yee CALIGO Maria A. SPUGNESI Laura BOJESEN Anders PEDERSEN Inge Sokilde THOMASSEN Mads JENSEN Uffe Birk TOLAND Amanda Ewart SENTER Leigha ANDRULIS Irene L. GLENDON Gord HULICK Peter J. IRNYANITOV Evgeny N. GREENE Mark H. MAI Phuong L. SINGER Christian F. RAPPAPORT-FUERHAUSER Christine KRAMER Gero VIJAI Joseph OFFIT Kenneth ROBSON Mark LINCOLN Anne JACOBS Lauren MACHACKOVA Eva FORETOVÁ Lenka NAVRATILOVA Marie VASICKOVA Petra COUCH Fergus J. HALLBERG Emily RUDDY Kathryn J. SHARMA Priyanka KIM Sung-Won TEIXEIRA Manuela R. PINTO Pedro MONTAGNA Marco MATRICARDI Laura ARASON Adalgeir JOHANNSSON Oskar Th. BARKARDOTTIR Rosa B. JAKUBOWSKA Anna LUBINSKI Jan IZQUIERDO Angel PUJANA Miguel Angel BALMANA Judith DIEZ Orland IVADY Gabriella PAPP Janos OLAH Edith KWONG Ava NEVANLINNA Heli AITTOMÄKI Kristiina SEGURA Pedro Perez CALDES Trinidad MAERKEN Tom Van POPPE Bruce CLAES Kathleen B. M. ISAACS Claudine ELAN Camille LASSET Christine STOPPA-LYONNET Dominique BARJHOUX Laure BELOTTI Muriel MEINDL Alfons GEHRIG Andrea SUTTER Christian ENGER Christoph NIEDERACHER Dieter STEINEMANN Doris HAHNEN Eric KAST Karin ARNOLD Norbert VARON-MATEEVA Raymonda WAND Dorothea GODWIN Andrew K. EVANS D. Gareth FROST Debra PERKINS Jo ADLARD Julian IZATT Louise PLATTE Radka EELES Ros ELLIS Steve HAMANN Ute GARBER Judy FOSTIRA Florentia FOUNTZILAS George PASINI Barbara GIANNINI Giuseppe RIZZOLO Piera RUSSO Antonio CORTESI Laura PAPI Laura VARESCO Liliana PALLI Domenico ZANNA Ines SAVARESE Antonella RADICE Paolo MANOUKIAN Siranoush PEISSEL Bernard BARILE Monica BONANNI Bernardo VIEL Alessandra PENSOTTI Valeria TOMMASI Stefania PETERLONGO Paolo WEITZEL Jeffrey N. OSORIO Ana BENITEZ Javier MCGUFFOG Lesley HEALEY Sue GERDES Anne-Marie EJLERTSEN Bent HANSEN Thomas V. O. STEELE Linda DING Yuan Chun TUNG Nadine JANAVICIUS Ramunas GOLDGAR David E. BUYS Saundra S. DALY Mary B. BANE Anita TERRY Mary Beth JOHN Esther M. SOUTHEY Melissa EASTON Douglas F. CHENEVIX-TRENCH Georgia ANTONIOU Antonis C. OTTINI Laura
Year of publication	2016
Type	Article in Periodical
Magazine / Source	Breast Cancer Research
MU Faculty or unit	Faculty of Medicine
Citation
Doi	http://dx.doi.org/10.1186/s13058-016-0671-y
Field	Oncology and hematology
Keywords	Male breast cancer; BRCA1/2; Pathology; Histologic grade; Genotype-phenotype correlations
Description	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 x 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 x 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.