TY - JOUR
A1 - Vigorito, Elena
A1 - Kuchenbaecker, Karoline B.
A1 - Beesley, Jonathan
A1 - Adlard, Julian
A1 - Agnarsson, Bjarni A.
A1 - Andrulis, Irene L.
A1 - Arun, Banu K.
A1 - Barjhoux, Laure
A1 - Belotti, Muriel
A1 - Benitez, Javier
A1 - Berger, Andreas
A1 - Bojesen, Anders
A1 - Bonanni, Bernardo
A1 - Brewer, Carole
A1 - Caldes, Trinidad
A1 - Caligo, Maria A.
A1 - Campbell, Ian
A1 - Chan, Salina B.
A1 - Claes, Kathleen B. M.
A1 - Cohn, David E.
A1 - Cook, Jackie
A1 - Daly, Mary B.
A1 - Damiola, Francesca
A1 - Davidson, Rosemarie
A1 - de Pauw, Antoine
A1 - Delnatte, Capucine
A1 - Diez, Orland
A1 - Domchek, Susan M.
A1 - Dumont, Martine
A1 - Durda, Katarzyna
A1 - Dworniczak, Bernd
A1 - Easton, Douglas F.
A1 - Eccles, Diana
A1 - Ardnor, Christina Edwinsdotter
A1 - Eeles, Ros
A1 - Ejlertsen, Bent
A1 - Ellis, Steve
A1 - Evans, D. Gareth
A1 - Feliubadalo, Lidia
A1 - Fostira, Florentia
A1 - Foulkes, William D.
A1 - Friedman, Eitan
A1 - Frost, Debra
A1 - Gaddam, Pragna
A1 - Ganz, Patricia A.
A1 - Garber, Judy
A1 - Garcia-Barberan, Vanesa
A1 - Gauthier-Villars, Marion
A1 - Gehrig, Andrea
A1 - Gerdes, Anne-Marie
A1 - Giraud, Sophie
A1 - Godwin, Andrew K.
A1 - Goldgar, David E.
A1 - Hake, Christopher R.
A1 - Hansen, Thomas V. O.
A1 - Healey, Sue
A1 - Hodgson, Shirley
A1 - Hogervorst, Frans B. L.
A1 - Houdayer, Claude
A1 - Hulick, Peter J.
A1 - Imyanitov, Evgeny N.
A1 - Isaacs, Claudine
A1 - Izatt, Louise
A1 - Izquierdo, Angel
A1 - Jacobs, Lauren
A1 - Jakubowska, Anna
A1 - Janavicius, Ramunas
A1 - Jaworska-Bieniek, Katarzyna
A1 - Jensen, Uffe Birk
A1 - John, Esther M.
A1 - Vijai, Joseph
A1 - Karlan, Beth Y.
A1 - Kast, Karin
A1 - Khan, Sofia
A1 - Kwong, Ava
A1 - Laitman, Yael
A1 - Lester, Jenny
A1 - Lesueur, Fabienne
A1 - Liljegren, Annelie
A1 - Lubinski, Jan
A1 - Mai, Phuong L.
A1 - Manoukian, Siranoush
A1 - Mazoyer, Sylvie
A1 - Meindl, Alfons
A1 - Mensenkamp, Arjen R.
A1 - Montagna, Marco
A1 - Nathanson, Katherine L.
A1 - Neuhausen, Susan L.
A1 - Nevanlinna, Heli
A1 - Niederacher, Dieter
A1 - Olah, Edith
A1 - Olopade, Olufunmilayo I.
A1 - Ong, Kai-ren
A1 - Osorio, Ana
A1 - Park, Sue Kyung
A1 - Paulsson-Karlsson, Ylva
A1 - Pedersen, Inge Sokilde
A1 - Peissel, Bernard
A1 - Peterlongo, Paolo
A1 - Pfeiler, Georg
A1 - Phelan, Catherine M.
A1 - Piedmonte, Marion
A1 - Poppe, Bruce
A1 - Pujana, Miquel Angel
A1 - Radice, Paolo
A1 - Rennert, Gad
A1 - Rodriguez, Gustavo C.
A1 - Rookus, Matti A.
A1 - Ross, Eric A.
A1 - Schmutzler, Rita Katharina
A1 - Simard, Jacques
A1 - Singer, Christian F.
A1 - Slavin, Thomas P.
A1 - Soucy, Penny
A1 - Southey, Melissa
A1 - Steinemann, Doris
A1 - Stoppa-Lyonnet, Dominique
A1 - Sukiennicki, Grzegorz
A1 - Sutter, Christian
A1 - Szabo, Csilla I.
A1 - Tea, Muy-Kheng
A1 - Teixeira, Manuel R.
A1 - Teo, Soo-Hwang
A1 - Terry, Mary Beth
A1 - Thomassen, Mads
A1 - Tibiletti, Maria Grazia
A1 - Tihomirova, Laima
A1 - Tognazzo, Silvia
A1 - van Rensburg, Elizabeth J.
A1 - Varesco, Liliana
A1 - Varon-Mateeva, Raymonda
A1 - Vratimos, Athanassios
A1 - Weitzel, Jeffrey N.
A1 - McGuffog, Lesley
A1 - Kirk, Judy
A1 - Toland, Amanda Ewart
A1 - Hamann, Ute
A1 - Lindor, Noralane
A1 - Ramus, Susan J.
A1 - Greene, Mark H.
A1 - Couch, Fergus J.
A1 - Offit, Kenneth
A1 - Pharoah, Paul D. P.
A1 - Chenevix-Trench, Georgia
A1 - Antoniou, Antonis C.
T1 - Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
JF - PLoS ONE
N2 - Population-based genome wide association studies have identified a locus at 9p22.2 associated with ovarian cancer risk, which also modifies ovarian cancer risk in BRCA1 and BRCA2 mutation carriers. We conducted fine-scale mapping at 9p22.2 to identify potential causal variants in BRCA1 and BRCA2 mutation carriers. Genotype data were available for 15,252 (2,462 ovarian cancer cases) BRCA1 and 8,211 (631 ovarian cancer cases) BRCA2 mutation carriers. Following genotype imputation, ovarian cancer associations were assessed for 4,873 and 5,020 SNPs in BRCA1 and BRCA 2 mutation carriers respectively, within a retrospective cohort analytical framework. In BRCA1 mutation carriers one set of eight correlated candidate causal variants for ovarian cancer risk modification was identified (top SNP rs10124837, HR: 0.73, 95%CI: 0.68 to 0.79, p-value 2× 10−16). These variants were located up to 20 kb upstream of BNC2. In BRCA2 mutation carriers one region, up to 45 kb upstream of BNC2, and containing 100 correlated SNPs was identified as candidate causal (top SNP rs62543585, HR: 0.69, 95%CI: 0.59 to 0.80, p-value 1.0 × 10−6). The candidate causal in BRCA1 mutation carriers did not include the strongest associated variant at this locus in the general population. In sum, we identified a set of candidate causal variants in a region that encompasses the BNC2 transcription start site. The ovarian cancer association at 9p22.2 may be mediated by different variants in BRCA1 mutation carriers and in the general population. Thus, potentially different mechanisms may underlie ovarian cancer risk for mutation carriers and the general population.
KW - fine-scale mapping
KW - ovarian cancer
KW - genetics
KW - BRCA1
KW - BRCA2
Y1 - 2016
U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-166869
VL - 11
IS - 7
ER -
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 -