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    Breast cancer research : BCR. 2016 Feb 9. doi: 10.1186/s13058-016-0671-y. pii: 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,  Neuhausen SL4,  Fox S5,  Karlan BY6,  Mitchell G7,  James P8,  Thull DL9,  Zorn KK10,  Carter NJ11,  Nathanson KL12,  Domchek SM13,  Rebbeck TR14,  Ramus SJ15,  Nussbaum RL16,  Olopade OI17,  Rantala J18,  Yoon SY19,  Caligo MA20,  Spugnesi L21,  Bojesen A22,  Pedersen IS23,  Thomassen M24,  Jensen UB25,  Toland AE26,  Senter L27,  Andrulis IL28,  Glendon G29,  Hulick PJ30,  Imyanitov EN31,  Greene MH32,  Mai PL33,  Singer CF34,  Rappaport-Fuerhauser C35,  Kramer G36,  Vijai J37,  Offit K38,  Robson M39,  Lincoln A40,  Jacobs L41,  Machackova E42,  Foretova L43,  Navratilova M44,  Vasickova P45,  Couch FJ46,  Hallberg E47,  Ruddy KJ48,  Sharma P49,  Kim SW50,  Teixeira MR51,  Pinto P52,  Montagna M53,  Matricardi L54,  Arason A55,  Johannsson OT56,  Barkardottir RB57,  Jakubowska A58,  Lubinski J59,  Izquierdo A60,  Pujana MA61,  Balmaña J62,  Diez O63,  Ivady G64,  Papp J65,  Olah E66,  Kwong A67,  Nevanlinna H68,  Aittomäki K69,  Perez Segura P70,  Caldes T71,  Van Maerken T72,  Poppe B73,  Claes KB74,  Isaacs C75,  Elan C76,  Lasset C77,  Stoppa-Lyonnet D78,  Barjhoux L79,  Belotti M80,  Meindl A81,  Gehrig A82,  Sutter C83,  Engel C84,  Niederacher D85,  Steinemann D86,  Hahnen E87,  Kast K88,  Arnold N89,  Varon-Mateeva R90,  Wand D91,  Godwin AK92,  Evans DG93,  Frost D94,  Perkins J95,  Adlard J96,  Izatt L97,  Platte R98,  Eeles R99,  Ellis S100,  Hamann U101,  Garber J102,  Fostira F103,  Fountzilas G104,  Pasini B105,  Giannini G106,  Rizzolo P107,  Russo A108,  Cortesi L109,  Papi L110,  Varesco L111,  Palli D112,  Zanna I113,  Savarese A114,  Radice P115,  Manoukian S116,  Peissel B117,  Barile M118,  Bonanni B119,  Viel A120,  Pensotti V121,  Tommasi S122,  Peterlongo P123,  Weitzel JN124,  Osorio A125,  Benitez J126,  McGuffog L127,  Healey S128,  Gerdes AM129,  Ejlertsen B130,  Hansen TV131,  Steele L132,  Ding YC133,  Tung N134,  Janavicius R135,  Goldgar DE136,  Buys SS137,  Daly MB138,  Bane A139,  Terry MB140,  John EM141,  Southey M142,  Easton DF143,  Chenevix-Trench G144,  Antoniou AC145,  Ottini L146
    Author information
    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.


    Publikations ID: 26857456
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