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

Silvestri, V and Barrowdale, D and Mulligan, AM and Neuhausen, SL and Fox, S and Karlan, BY and Mitchell, G and James, P and Thull, DL and Zorn, KK and Carter, NJ and Nathanson, KL and Domchek, SM and Rebbeck, TR and Ramus, SJ and Nussbaum, RL and Olopade, OI and Rantala, J and Yoon, SY and Caligo, MA and Spugnesi, L and Bojesen, A and Pedersen, IS and Thomassen, M and Jensen, UB and Toland, AE and Senter, L and Andrulis, IL and Glendon, G and Hulick, PJ and Imyanitov, EN and Greene, MH and Mai, PL and Singer, CF and Rappaport-Fuerhauser, C and Kramer, G and Vijai, J and Offit, K and Robson, M and Lincoln, A and Jacobs, L and Machackova, E and Foretova, L and Navratilova, M and Vasickova, P and Couch, FJ and Hallberg, E and Ruddy, KJ and Sharma, P and Kim, SW and Teixeira, MR and Pinto, P and Montagna, M and Matricardi, L and Arason, A and Johannsson, OT and Barkardottir, RB and Jakubowska, A and Lubinski, J and Izquierdo, A and Pujana, MA and Balmaña, J and Diez, O and Ivady, G and Papp, J and Olah, E and Kwong, A and Nevanlinna, H and Aittomäki, K and Perez Segura, P and Caldes, T and Van Maerken, T and Poppe, B and Claes, KBM and Isaacs, C and Elan, C and Lasset, C and Stoppa-Lyonnet, D and Barjhoux, L and Belotti, M and Meindl, A and Gehrig, A and Sutter, C and Engel, C and Niederacher, D and Steinemann, D and Hahnen, E and Kast, K and Arnold, N and Varon-Mateeva, R and Wand, D and Godwin, AK and Evans, DG and Frost, D and Perkins, J and Adlard, J and Izatt, L and Platte, R and Eeles, R and Ellis, S (2016) Male breast cancer in BRCA1 and BRCA2 mutation carriers: Pathology data from the Consortium of Investigators of Modifiers of BRCA1/2. Breast Cancer Research, 18 (1). ISSN 1465-5411

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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.


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Item Type: Article
Status: Published
CreatorsEmailPitt UsernameORCID
Silvestri, V
Barrowdale, D
Mulligan, AM
Neuhausen, SL
Fox, S
Karlan, BY
Mitchell, G
James, P
Thull, DLdlt48@pitt.eduDLT48
Zorn, KK
Carter, NJ
Nathanson, KL
Domchek, SM
Rebbeck, TR
Ramus, SJ
Nussbaum, RL
Olopade, OI
Rantala, J
Yoon, SY
Caligo, MA
Spugnesi, L
Bojesen, A
Pedersen, IS
Thomassen, M
Jensen, UB
Toland, AE
Senter, L
Andrulis, IL
Glendon, G
Hulick, PJ
Imyanitov, EN
Greene, MH
Mai, PLplm18@pitt.eduPLM18
Singer, CF
Rappaport-Fuerhauser, C
Kramer, G
Vijai, J
Offit, K
Robson, M
Lincoln, A
Jacobs, L
Machackova, E
Foretova, L
Navratilova, M
Vasickova, P
Couch, FJ
Hallberg, E
Ruddy, KJ
Sharma, P
Kim, SW
Teixeira, MR
Pinto, P
Montagna, M
Matricardi, L
Arason, A
Johannsson, OT
Barkardottir, RB
Jakubowska, A
Lubinski, J
Izquierdo, A
Pujana, MA
Balmaña, J
Diez, O
Ivady, G
Papp, J
Olah, E
Kwong, A
Nevanlinna, H
Aittomäki, K
Perez Segura, P
Caldes, T
Van Maerken, T
Poppe, B
Claes, KBM
Isaacs, C
Elan, C
Lasset, C
Stoppa-Lyonnet, D
Barjhoux, L
Belotti, M
Meindl, A
Gehrig, A
Sutter, C
Engel, C
Niederacher, D
Steinemann, D
Hahnen, E
Kast, K
Arnold, N
Varon-Mateeva, R
Wand, D
Godwin, AK
Evans, DG
Frost, D
Perkins, J
Adlard, J
Izatt, L
Platte, R
Eeles, R
Ellis, S
Date: 9 February 2016
Date Type: Publication
Journal or Publication Title: Breast Cancer Research
Volume: 18
Number: 1
DOI or Unique Handle: 10.1186/s13058-016-0671-y
Schools and Programs: School of Medicine > Medicine
Refereed: Yes
ISSN: 1465-5411
Date Deposited: 22 Aug 2016 17:28
Last Modified: 22 Jun 2021 16:55


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