TY  - JOUR
A1  - Silvestri, Valentina
A1  - Barrowdale, Daniel
A1  - Mulligan, Anna Marie
A1  - Neuhausen, Susan L.
A1  - Fox, Stephen
A1  - Karlan, Beth Y.
A1  - Mitchell, Gillian
A1  - James, Paul
A1  - Thull, Darcy L.
A1  - Zorn, Kristin K.
A1  - Carter, Natalie J.
A1  - Nathanson, Katherine L.
A1  - Domchek, Susan M.
A1  - Rebbeck, Timothy R.
A1  - Ramus, Susan J.
A1  - Nussbaum, Robert L.
A1  - Olopade, Olufunmilayo I.
A1  - Rantala, Johanna
A1  - Yoon, Sook-Yee
A1  - Caligo, Maria A.
A1  - Spugnesi, Laura
A1  - Bojesen, Anders
A1  - Pedersen, Inge Sokilde
A1  - Thomassen, Mads
A1  - Jensen, Uffe Birk
A1  - Toland, Amanda Ewart
A1  - Senter, Leigha
A1  - Andrulis, Irene L.
A1  - Glendon, Gord
A1  - Hulick, Peter J.
A1  - Imyanitov, Evgeny N.
A1  - Greene, Mark H.
A1  - Mai, Phuong L.
A1  - Singer, Christian F.
A1  - Rappaport-Fuerhauser, Christine
A1  - Kramer, Gero
A1  - Vijai, Joseph
A1  - Offit, Kenneth
A1  - Robson, Mark
A1  - Lincoln, Anne
A1  - Jacobs, Lauren
A1  - Machackova, Eva
A1  - Foretova, Lenka
A1  - Navratilova, Marie
A1  - Vasickova, Petra
A1  - Couch, Fergus J.
A1  - Hallberg, Emily
A1  - Ruddy, Kathryn J.
A1  - Sharma, Priyanka
A1  - Kim, Sung-Won
A1  - Teixeira, Manuel R.
A1  - Pinto, Pedro
A1  - Montagna, Marco
A1  - Matricardi, Laura
A1  - Arason, Adalgeir
A1  - Johannsson, Oskar Th
A1  - Barkardottir, Rosa B.
A1  - Jakubowska, Anna
A1  - Lubinski, Jan
A1  - Izquierdo, Angel
A1  - Pujana, Miguel Angel
A1  - Balmaña, Judith
A1  - Diez, Orland
A1  - Ivady, Gabriella
A1  - Papp, Janos
A1  - Olah, Edith
A1  - Kwong, Ava
A1  - Nevanlinna, Heli
A1  - Aittomäki, Kristiina
A1  - Segura, Pedro Perez
A1  - Caldes, Trinidad
A1  - Van Maerken, Tom
A1  - Poppe, Bruce
A1  - Claes, Kathleen B. M.
A1  - Isaacs, Claudine
A1  - Elan, Camille
A1  - Lasset, Christine
A1  - Stoppa-Lyonnet, Dominique
A1  - Barjhoux, Laure
A1  - Belotti, Muriel
A1  - Meindl, Alfons
A1  - Gehrig, Andrea
A1  - Sutter, Christian
A1  - Engel, Christoph
A1  - Niederacher, Dieter
A1  - Steinemann, Doris
A1  - Hahnen, Eric
A1  - Kast, Karin
A1  - Arnold, Norbert
A1  - Varon-Mateeva, Raymonda
A1  - Wand, Dorothea
A1  - Godwin, Andrew K.
A1  - Evans, D. Gareth
A1  - Frost, Debra
A1  - Perkins, Jo
A1  - Adlard, Julian
A1  - Izatt, Louise
A1  - Platte, Radka
A1  - Eeles, Ros
A1  - Ellis, Steve
A1  - Hamann, Ute
A1  - Garber, Judy
A1  - Fostira, Florentia
A1  - Fountzilas, George
A1  - Pasini, Barbara
A1  - Giannini, Giuseppe
A1  - Rizzolo, Piera
A1  - Russo, Antonio
A1  - Cortesi, Laura
A1  - Papi, Laura
A1  - Varesco, Liliana
A1  - Palli, Domenico
A1  - Zanna, Ines
A1  - Savarese, Antonella
A1  - Radice, Paolo
A1  - Manoukian, Siranoush
A1  - Peissel, Bernard
A1  - Barile, Monica
A1  - Bonanni, Bernardo
A1  - Viel, Alessandra
A1  - Pensotti, Valeria
A1  - Tommasi, Stefania
A1  - Peterlongo, Paolo
A1  - Weitzel, Jeffrey N.
A1  - Osorio, Ana
A1  - Benitez, Javier
A1  - McGuffog, Lesley
A1  - Healey, Sue
A1  - Gerdes, Anne-Marie
A1  - Ejlertsen, Bent
A1  - Hansen, Thomas V. O.
A1  - Steele, Linda
A1  - Ding, Yuan Chun
A1  - Tung, Nadine
A1  - Janavicius, Ramunas
A1  - Goldgar, David E.
A1  - Buys, Saundra S.
A1  - Daly, Mary B.
A1  - Bane, Anita
A1  - Terry, Mary Beth
A1  - John, Esther M.
A1  - Southey, Melissa
A1  - Easton, Douglas F.
A1  - Chenevix-Trench, Georgia
A1  - Antoniou, Antonis C.
A1  - Ottini, Laura
T1  - Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2
JF  - Breast Cancer Research
N2  - 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.
KW  - Male breast cancer
KW  - BRCA1/2
KW  - Pathology
KW  - Histologic grade
KW  - Genotype–phenotype correlations
Y1  - 2016
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-164769
VL  - 18
IS  - 15
ER  - 
TY  - JOUR
A1  - Ferreira, Manuel A.
A1  - Gamazon, Eric R.
A1  - Al-Ejeh, Fares
A1  - Aittomäki, Kristiina
A1  - Andrulis, Irene L.
A1  - Anton-Culver, Hoda
A1  - Arason, Adalgeir
A1  - Arndt, Volker
A1  - Aronson, Kristan J.
A1  - Arun, Banu K.
A1  - Asseryanis, Ella
A1  - Azzollini, Jacopo
A1  - Balmaña, Judith
A1  - Barnes, Daniel R.
A1  - Barrowdale, Daniel
A1  - Beckmann, Matthias W.
A1  - Behrens, Sabine
A1  - Benitez, Javier
A1  - Bermisheva, Marina
A1  - Bialkowska, Katarzyna
A1  - Blomqvist, Carl
A1  - Bogdanova, Natalia V.
A1  - Bojesen, Stig E.
A1  - Bolla, Manjeet K.
A1  - Borg, Ake
A1  - Brauch, Hiltrud
A1  - Brenner, Hermann
A1  - Broeks, Annegien
A1  - Burwinkel, Barbara
A1  - Caldés, Trinidad
A1  - Caligo, Maria A.
A1  - Campa, Daniele
A1  - Campbell, Ian
A1  - Canzian, Federico
A1  - Carter, Jonathan
A1  - Carter, Brian D.
A1  - Castelao, Jose E.
A1  - Chang-Claude, Jenny
A1  - Chanock, Stephen J.
A1  - Christiansen, Hans
A1  - Chung, Wendy K.
A1  - Claes, Kathleen B. M.
A1  - Clarke, Christine L.
A1  - Couch, Fergus J.
A1  - Cox, Angela
A1  - Cross, Simon S.
A1  - Czene, Kamila
A1  - Daly, Mary B.
A1  - de la Hoya, Miguel
A1  - Dennis, Joe
A1  - Devilee, Peter
A1  - Diez, Orland
A1  - Dörk, Thilo
A1  - Dunning, Alison M.
A1  - Dwek, Miriam
A1  - Eccles, Diana M.
A1  - Ejlertsen, Bent
A1  - Ellberg, Carolina
A1  - Engel, Christoph
A1  - Eriksson, Mikael
A1  - Fasching, Peter A.
A1  - Fletcher, Olivia
A1  - Flyger, Henrik
A1  - Friedman, Eitan
A1  - Frost, Debra
A1  - Gabrielson, Marike
A1  - Gago-Dominguez, Manuela
A1  - Ganz, Patricia A.
A1  - Gapstur, Susan M.
A1  - Garber, Judy
A1  - García-Closas, Montserrat
A1  - García-Sáenz, José A.
A1  - Gaudet, Mia M.
A1  - Giles, Graham G.
A1  - Glendon, Gord
A1  - Godwin, Andrew K.
A1  - Goldberg, Mark S.
A1  - Goldgar, David E.
A1  - González-Neira, Anna
A1  - Greene, Mark H.
A1  - Gronwald, Jacek
A1  - Guenél, Pascal
A1  - Haimann, Christopher A.
A1  - Hall, Per
A1  - Hamann, Ute
A1  - He, Wei
A1  - Heyworth, Jane
A1  - Hogervorst, Frans B. L.
A1  - Hollestelle, Antoinette
A1  - Hoover, Robert N.
A1  - Hopper, John L.
A1  - Hulick, Peter J.
A1  - Humphreys, Keith
A1  - Imyanitov, Evgeny N.
A1  - Isaacs, Claudine
A1  - Jakimovska, Milena
A1  - Jakubowska, Anna
A1  - James, Paul A.
A1  - Janavicius, Ramunas
A1  - Jankowitz, Rachel C.
A1  - John, Esther M.
A1  - Johnson, Nichola
A1  - Joseph, Vijai
A1  - Karlan, Beth Y.
A1  - Khusnutdinova, Elza
A1  - Kiiski, Johanna I.
A1  - Ko, Yon-Dschun
A1  - Jones, Michael E.
A1  - Konstantopoulou, Irene
A1  - Kristensen, Vessela N.
A1  - Laitman, Yael
A1  - Lambrechts, Diether
A1  - Lazaro, Conxi
A1  - Leslie, Goska
A1  - Lester, Jenny
A1  - Lesueur, Fabienne
A1  - Lindström, Sara
A1  - Long, Jirong
A1  - Loud, Jennifer T.
A1  - Lubiński, Jan
A1  - Makalic, Enes
A1  - Mannermaa, Arto
A1  - Manoochehri, Mehdi
A1  - Margolin, Sara
A1  - Maurer, Tabea
A1  - Mavroudis, Dimitrios
A1  - McGuffog, Lesley
A1  - Meindl, Alfons
A1  - Menon, Usha
A1  - Michailidou, Kyriaki
A1  - Miller, Austin
A1  - Montagna, Marco
A1  - Moreno, Fernando
A1  - Moserle, Lidia
A1  - Mulligan, Anna Marie
A1  - Nathanson, Katherine L.
A1  - Neuhausen, Susan L.
A1  - Nevanlinna, Heli
A1  - Nevelsteen, Ines
A1  - Nielsen, Finn C.
A1  - Nikitina-Zake, Liene
A1  - Nussbaum, Robert L.
A1  - Offit, Kenneth
A1  - Olah, Edith
A1  - Olopade, Olufunmilayo I.
A1  - Olsson, Håkan
A1  - Osorio, Ana
A1  - Papp, Janos
A1  - Park-Simon, Tjoung-Won
A1  - Parsons, Michael T.
A1  - Pedersen, Inge Sokilde
A1  - Peixoto, Ana
A1  - Peterlongo, Paolo
A1  - Pharaoh, Paul D. P.
A1  - Plaseska-Karanfilska, Dijana
A1  - Poppe, Bruce
A1  - Presneau, Nadege
A1  - Radice, Paolo
A1  - Rantala, Johanna
A1  - Rennert, Gad
A1  - Risch, Harvey A.
A1  - Saloustros, Emmanouil
A1  - Sanden, Kristin
A1  - Sawyer, Elinor J.
A1  - Schmidt, Marjanka K.
A1  - Schmutzler, Rita K.
A1  - Sharma, Priyanka
A1  - Shu, Xiao-Ou
A1  - Simard, Jaques
A1  - Singer, Christian F.
A1  - Soucy, Penny
A1  - Southey, Melissa C.
A1  - Spinelli, John J.
A1  - Spurdle, Amanda B.
A1  - Stone, Jennifer
A1  - Swerdlow, Anthony J.
A1  - Tapper, William J.
A1  - Taylor, Jack A.
A1  - Teixeira, Manuel R.
A1  - Terry, Mary Beth
A1  - Teulé, Alex
A1  - Thomassen, Mads
A1  - Thöne, Kathrin
A1  - Thull, Darcy L.
A1  - Tischkowitz, Marc
A1  - Toland, Amanda E.
A1  - Torres, Diana
A1  - Truong, Thérèse
A1  - Tung, Nadine
A1  - Vachon, Celine M.
A1  - van Asperen, Christi J.
A1  - van den Ouweland, Ans M. W.
A1  - van Rensburg, Elizabeth J.
A1  - Vega, Ana
A1  - Viel, Alexandra
A1  - Wang, Qin
A1  - Wappenschmidt, Barbara
A1  - Weitzel, Jeffrey N.
A1  - Wendt, Camilla
A1  - Winqvist, Robert
A1  - Yang, Xiaohong R.
A1  - Yannoukakos, Drakoulis
A1  - Ziogas, Argyrios
A1  - Kraft, Peter
A1  - Antoniou, Antonis C.
A1  - Zheng, Wei
A1  - Easton, Douglas F.
A1  - Milne, Roger L.
A1  - Beesley, Jonathan
A1  - Chenevix-Trench, Georgia
T1  - Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
JF  - Nature Communications
N2  - Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue and immune cells from blood and spleen. Using expression quantitative trait loci (eQTL) reported in these tissues, we identify 26 previously unreported, likely target genes of overall breast cancer risk variants, and 17 for estrogen receptor (ER)-negative breast cancer, several with a known immune function. We determine the directional effect of gene expression on disease risk measured based on single and multiple eQTL. In addition, using a gene-based test of association that considers eQTL from multiple tissues, we identify seven (and four) regions with variants associated with overall (and ER-negative) breast cancer risk, which were not reported in previous GWAS. Further investigation of the function of the implicated genes in breast and immune cells may provide insights into the etiology of breast cancer.
KW  - cancer
KW  - genetics
Y1  - 2019
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-228024
VL  - 10
ER  -