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

Autor: Silvestri, Barrowdale, V., DMulligan A. M., C, dEmail, Author, Neuhausen, eEmail Author, S. L., Fox, fEmail Author, S., Karlan, gEmail Author, B. Y., Mitchell G., H, iEmail, Author, James P., H, Thull, jEmail Author, D. L., Zorn, jEmail Author, K. K., Carter, kEmail Author, N. J., Nathanson, lEmail Author, K. L., Domchek, lEmail Author, S. M., Rebbeck, mEmail Author, T. R., Ramus, nEmail Author, S. J., Nussbaum, oEmail Author, R. L., Olopade, pEmail Author, O. I., Rantala, qEmail Author, J., Yoon, S. -Y., R, sEmail, Author, Caligo, tEmail Author, M. A., Spugnesi, tEmail Author, L., Bojesen, uEmail Author, A., Pedersen, vEmail Author, I. S., Thomassen, wEmail Author, M., Jensen, xEmail Author, U. B., Toland, yEmail Author, A. E., Senter, zEmail Author, L., Andrulis I. L., D, abEmail, Author, Glendon, aaEmail Author, G., Hulick, acEmail Author, P. J., Imyanitov, adEmail Author, E. N., Greene, aeEmail Author, M. H., Mai, aeEmail Author, P. L., Singer, afEmail Author, C. F., Rappaport-Fuerhauser, afEmail Author, C., Kramer, agEmail Author, G., Vijai, ahEmail Author, J., Offit, ahEmail Author, K., Robson, aiEmail Author, M., Lincoln, ahEmail Author, A., Jacobs, ahEmail Author, L., Machackova, ajEmail Author, E., Foretova, akEmail Author, L., Navratilova, ajEmail Author, M., Vasickova, ajEmail Author, P., Couch, F. J., Al, amEmail, Author, Hallberg, amEmail Author, E., Ruddy, anEmail Author, K. J., Sharma, aoEmail Author, P., Kim, apEmail Author, S. -W., Teixeira, M. R., Aq, arEmail, Author, Pinto, aqEmail Author, P., Montagna, asEmail Author, M., Matricardi, asEmail Author, L., Arason, atEmail Author, A., Johannsson, auEmail Author, O. T., Barkardottir, atEmail Author, R. B., Jakubowska, avEmail Author, A., Lubinski, avEmail Author, J., Izquierdo, awEmail Author, A., Pujana, axEmail Author, M. A., Balmaña, ayEmail Author, J., Diez, azEmail Author, O., Ivady, baEmail Author, G., Papp, bbEmail Author, J., Olah, bbEmail Author, E., Kwong, Bc, A., bdEmail, Author, Nevanlinna, beEmail Author, H., Aittomäki, bfEmail Author, K., Perez, Segura, bgEmail Author, P., Caldes, bhEmail Author, T., Van, Maerken, biEmail Author, T., Poppe, biEmail Author, B., Claes, biEmail Author, K. B. M., Isaacs, bjEmail Author, C., Elan, bkEmail Author, C., Lasset, Bl, C., bmEmail, Author, Stoppa-Lyonnet, Bk, D., bnEmail, Author, Barjhoux, boEmail Author, L., Belotti, bkEmail Author, M., Meindl, bpEmail Author, A., Gehrig, bqEmail Author, A., Sutter, brEmail Author, C., Engel, bsEmail Author, C., Niederacher, btEmail Author, D., Steinemann, buEmail Author, D., Hahnen, bvEmail Author, E., Kast, bwEmail Author, K., Arnold, bxEmail Author, N., Varon-Mateeva, byEmail Author, R., Wand, bzEmail Author, D., Godwin, caEmail Author, A. K., Evans, cbEmail Author, D. G., Frost, bEmail Author, D., Perkins, bEmail Author, J., Adlard, ccEmail Author, J., Izatt, cdEmail Author, L., Platte, ceEmail Author, R., Eeles, cfEmail Author, R., Ellis, bEmail Author, S., Hamann, cfEmail Author, U., Garber, cgEmail Author, J., Fostira, chEmail Author, F., Fountzilas, ciEmail Author, G., Pasini, Cj, B., ckEmail, Author, Giannini, aEmail Author, G., Rizzolo, aEmail Author, P., Russo, clEmail Author, A., Cortesi, cmEmail Author, L., Papi, Laura, cnEmail Author, L., Varesco, coEmail Author, L., Palli, cpEmail Author, D., Zanna, cpEmail Author, I., Savarese, cqEmail Author, A., Radice, crEmail Author, P., Manoukian, csEmail Author, S., Peissel, csEmail Author, B., Barile, ctEmail Author, M., Bonanni, ctEmail Author, B., Viel, cuEmail Author, A., Pensotti, Cv, V., cwEmail, Author, Tommasi, cxEmail Author, S., Peterlongo, cvEmail Author, P., Weitzel, cyEmail Author, J. N., Osorio, Cz, A., daEmail, Author, Benitez, Da, J., dcEmail, Author, McGuffog, bEmail Author, L., Healey, ddEmail Author, S., Gerdes, deEmail Author, A. -M., Ejlertsen, dfEmail Author, B., Hansen, dgEmail Author, T. V. O., Steele, eEmail Author, L., Ding, eEmail Author, Y. C., Tung, dhEmail Author, N., Janavicius, diEmail Author, R., Goldgar, djEmail Author, D. E., Buys, dkEmail Author, S. S., Daly, dlEmail Author, M. B., Bane, dmEmail Author, A., Terry, dnEmail Author, M. B., John, doEmail Author, E. M., Southey, dpEmail Author, M., Easton, bEmail Author, D. F., Chenevix-Trench, ddEmail Author, G., Antoniou, bEmail Author, A. C., Ottini, Papi, L
Přispěvatelé: Pathology, Department of Obstetrics and Gynecology, Clinicum, Medicum, Department of Medical and Clinical Genetics, 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., Domchek, 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, Ander, Pedersen, Inge Sokilde, Thomassen, Mad, Jensen, Uffe Birk, Toland, Amanda Ewart, Senter, Leigha, Andrulis, Irene L., Glendon, Gord, Hulick, Peter J., Imyanitov, 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, Foretova, Lenka, Navratilova, Marie, Vasickova, Petra, Couch, Fergus J., Hallberg, Emily, Ruddy, Kathryn J., Sharma, Priyanka, Kim, Sung-Won, Teixeira, Manuel R., Pinto, Pedro, Montagna, Marco, Matricardi, Laura, Arason, Adalgeir, Johannsson, Oskar Th, Barkardottir, Rosa B., Jakubowska, Anna, Lubinski, Jan, Izquierdo, Angel, Pujana, Miguel Angel, Balmaña, Judith, Diez, Orland, Ivady, Gabriella, Papp, Jano, Olah, Edith, Kwong, Ava, Nevanlinna, Heli, Aittomäki, Kristiina, Perez Segura, Pedro, Caldes, Trinidad, Van Maerken, Tom, Poppe, Bruce, Claes, Kathleen B.M., Isaacs, Claudine, Elan, Camille, Lasset, Christine, Stoppa-Lyonnet, Dominique, Barjhoux, Laure, Belotti, Muriel, Meindl, Alfon, Gehrig, Andrea, Sutter, Christian, Engel, Christoph, Niederacher, Dieter, Steinemann, Dori, 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, Ro, 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, Ine, 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, Ramuna, 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
Rok vydání: 2016
Předmět:
Male
0301 basic medicine
Genotype-phenotype correlation
Pathology
genotype-phenotype correlations
endocrine system diseases
Settore MED/06 - Oncologia Medica
FEATURES
male breast cancer
Genotype-phenotype correlations
Logistic regression
Histologic grade
610 Medical sciences Medicine
Breast cancer
0302 clinical medicine
Epidemiology
Medicine and Health Sciences
polycyclic compounds
skin and connective tissue diseases
POPULATION
RISK
education.field_of_study
BRCA1 Protein
Men
Single Nucleotide
Middle Aged
3. Good health
GRADE
030220 oncology & carcinogenesis
Male breast cancer
oncology
Female
Breast Neoplasm
Research Article
Human
Adult
medicine.medical_specialty
CARCINOMA
Genotype–phenotype correlations
3122 Cancers
Population
Breast Neoplasms
BRCA1/2
histologic grade
pathology
cancer research
Male breast cancer
BRCA1
BRCA2

Polymorphism
Single Nucleotide

Càncer de mama
Breast Neoplasms
Male

03 medical and health sciences
SDG 3 - Good Health and Well-being
Journal Article
Carcinoma
medicine
Humans
Genetic Predisposition to Disease
Polymorphism
education
Aged
Neoplasm Staging
BRCA2 Protein
business.industry
Odds ratio
medicine.disease
Confidence interval
030104 developmental biology
ddc:161
Homes
Mutation
Oncology
Cancer Research
business
Zdroj: Breast Cancer Research, 18. BioMed Central Ltd.
Silvestri, V, Barrowdale, D, Mulligan, A M, Neuhausen, S L, Fox, S, Karlan, B Y, Mitchell, G, James, P, Thull, D L, Zorn, K K, Carter, N J, Nathanson, K L, Domchek, S M, Rebbeck, T R, Ramus, S J, Nussbaum, R L, Olopade, O I, Rantala, J, Yoon, S-Y, Caligo, M A, Spugnesi, L, Bojesen, A, Pedersen, I S, Thomassen, M, Jensen, U B, Toland, A E, Senter, L, Andrulis, I L, Glendon, G, Hulick, P J, Imyanitov, E N, Greene, M H, Mai, P L, Singer, C F, Rappaport-Fuerhauser, C, Kramer, G, Vijai, J, Offit, K, Robson, M, Lincoln, A, Jacobs, L, Machackova, E, Foretova, L, Navratilova, M, Vasickova, P, Couch, F J, Hallberg, E, Ruddy, K J, Sharma, P, Kim, S-W & kConFab Investigators 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 (Online), vol. 18, no. 1, 15 . https://doi.org/10.1186/s13058-016-0671-y
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Silvestri, V; Barrowdale, D; Mulligan, AM; Neuhausen, SL; Fox, S; Karlan, BY; et al.(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. doi: 10.1186/s13058-016-0671-y. UCLA: Retrieved from: http://www.escholarship.org/uc/item/63r387vc
Dipòsit Digital de la UB
Universidad de Barcelona
Recercat. Dipósit de la Recerca de Catalunya
instname
Silvestri, V, Barrowdale, D, Mulligan, A M, Neuhausen, S L, Fox, S, Karlan, B Y, Mitchell, G, James, P, Thull, D L, Zorn, K K, Carter, N J, Nathanson, K L, Dornchek, S M, Rebbeck, T R, Ramus, S J, Nussbaum, R L, Olopade, O I, Rantala, J, Yoon, S-Y, Caligo, M A, Spugnesi, L, Bojesen, A, Pedersen, I S, Thomassen, M, Jensen, U B, Toland, A E, Senter, L, Andrulis, I L, Glendon, G, Hulick, P J, Irnyanitov, E N, Greene, M H, Mai, P L, Singer, C F, Rappaport-Fuerhauser, C, Kramer, G, Vijai, J, Offit, K, Robson, M, Lincoln, A, Jacobs, L, Machackova, E, Foretova, L, Navratilova, M, Vasickova, P, Couch, F J, Hallberg, E, Ruddy, K J, Sharma, P, Kim, S-W, Hereditary Breast Ovarian Canc Res & EMBRACE 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 (Online Edition), vol. 18, no. 15, 15 . https://doi.org/10.1186/s13058-016-0671-y
BREAST CANCER RESEARCH
Silvestri, V, Barrowdale, D, Mulligan, A M, Neuhausen, S L, Fox, S, Karlan, B Y, Mitchell, G, James, P, Thull, D L, Zorn, K K, Carter, N J, Nathanson, K L, Domchek, S M, Rebbeck, T R, Ramus, S J, Nussbaum, R L, Olopade, O I, Rantala, J, Yoon, S-Y, Caligo, M A, Spugnesi, L, Bojesen, A, Pedersen, I S, Thomassen, M, Jensen, U B, Toland, A E, Senter, L, Andrulis, I L, Glendon, G, Hulick, P J, Imyanitov, E N, Greene, M H, Mai, P L, Singer, C F, Rappaport-Fuerhauser, C, Kramer, G, Vijai, J, Offit, K, Robson, M, Lincoln, A, Jacobs, L, Machackova, E, Foretova, L, Navratilova, M, Vasickova, P, Couch, F J, Hallberg, E, Ruddy, K J, Sharma, P, Gerdes, A-M & kConFab Investigators 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 (Online), vol. 18, 15 . https://doi.org/10.1186/s13058-016-0671-y
Silvestri, V, Barrowdale, D, Mulligan, A M, Neuhausen, S L, Fox, S, Karlan, B Y, Mitchell, G, James, P, Thull, D L, Zorn, K K, Carter, N J, Nathanson, K L, Domchek, S M, Rebbeck, T R, Ramus, S J, Nussbaum, R L, Olopade, O I, Rantala, J, Yoon, S-Y, Caligo, M A, Spugnesi, L, Bojesen, A, Pedersen, I S, Thomassen, M, Jensen, U B, Toland, A E, Senter, L, Andrulis, I L, Glendon, G, Hulick, P J, Imyanitov, E N, Greene, M H, Mai, P L, Singer, C F, Rappaport-Fuerhauser, C, Kramer, G, Vijai, J, Offit, K, Robson, M, Lincoln, A, Jacobs, L, Machackova, E, Foretova, L, Navratilova, M, Vasickova, P, Couch, F J, Hallberg, E, Ruddy, K J, Sharma, P, Evans, G & kConFab Investigators 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, vol. 18, no. 1, 15 . https://doi.org/10.1186/s13058-016-0671-y
Silvestri, V, Barrowdale, D, Mulligan, A M, Neuhausen, S L, Fox, S, Karlan, B Y, Mitchell, G, James, P A, Thull, D L, Zorn, K K, Carter, N J, Nathanson, K L, Domchek, S M, Rebbeck, T R, Ramus, S J, Nussbaum, R L, Olopade, O I, Rantala, J, Yoon, S-Y, Caligo, M A, Spugnesi, L, Bojesen, A, Pedersen, I S, Thomassen, M, Jensen, U B, Toland, A E, Senter, L, Andrulis, I L, Glendon, G, Hulick, P J, Imyanitov, E N, Greene, M H, Mai, P L, Singer, C F, Rappaport-Fuerhauser, C, Kramer, G, Vijai, J, Offit, K, Robson, M, Lincoln, A, Jacobs, L, Machackova, E, Foretova, L, Navratilova, M, Vasickova, P, Couch, F J, Hallberg, E, Ruddy, K J, Gerdes, A-M, Hansen, T V O & kConFab Investigators 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 (Online), vol. 18, 15 . https://doi.org/10.1186/s13058-016-0671-y
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Breast Cancer Research : BCR
Breast Cancer Research, 18
ISSN: 1465-5411
1465-542X
Popis: 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. Electronic supplementary material The online version of this article (doi:10.1186/s13058-016-0671-y) contains supplementary material, which is available to authorized users.
Databáze: OpenAIRE