@article{VigoritoKuchenbaeckerBeesleyetal.2016,
  author    = {Vigorito, Elena and Kuchenbaecker, Karoline B. and Beesley, Jonathan and Adlard, Julian and Agnarsson, Bjarni A. and Andrulis, Irene L. and Arun, Banu K. and Barjhoux, Laure and Belotti, Muriel and Benitez, Javier and Berger, Andreas and Bojesen, Anders and Bonanni, Bernardo and Brewer, Carole and Caldes, Trinidad and Caligo, Maria A. and Campbell, Ian and Chan, Salina B. and Claes, Kathleen B. M. and Cohn, David E. and Cook, Jackie and Daly, Mary B. and Damiola, Francesca and Davidson, Rosemarie and de Pauw, Antoine and Delnatte, Capucine and Diez, Orland and Domchek, Susan M. and Dumont, Martine and Durda, Katarzyna and Dworniczak, Bernd and Easton, Douglas F. and Eccles, Diana and Ardnor, Christina Edwinsdotter and Eeles, Ros and Ejlertsen, Bent and Ellis, Steve and Evans, D. Gareth and Feliubadalo, Lidia and Fostira, Florentia and Foulkes, William D. and Friedman, Eitan and Frost, Debra and Gaddam, Pragna and Ganz, Patricia A. and Garber, Judy and Garcia-Barberan, Vanesa and Gauthier-Villars, Marion and Gehrig, Andrea and Gerdes, Anne-Marie and Giraud, Sophie and Godwin, Andrew K. and Goldgar, David E. and Hake, Christopher R. and Hansen, Thomas V. O. and Healey, Sue and Hodgson, Shirley and Hogervorst, Frans B. L. and Houdayer, Claude and Hulick, Peter J. and Imyanitov, Evgeny N. and Isaacs, Claudine and Izatt, Louise and Izquierdo, Angel and Jacobs, Lauren and Jakubowska, Anna and Janavicius, Ramunas and Jaworska-Bieniek, Katarzyna and Jensen, Uffe Birk and John, Esther M. and Vijai, Joseph and Karlan, Beth Y. and Kast, Karin and Khan, Sofia and Kwong, Ava and Laitman, Yael and Lester, Jenny and Lesueur, Fabienne and Liljegren, Annelie and Lubinski, Jan and Mai, Phuong L. and Manoukian, Siranoush and Mazoyer, Sylvie and Meindl, Alfons and Mensenkamp, Arjen R. and Montagna, Marco and Nathanson, Katherine L. and Neuhausen, Susan L. and Nevanlinna, Heli and Niederacher, Dieter and Olah, Edith and Olopade, Olufunmilayo I. and Ong, Kai-ren and Osorio, Ana and Park, Sue Kyung and Paulsson-Karlsson, Ylva and Pedersen, Inge Sokilde and Peissel, Bernard and Peterlongo, Paolo and Pfeiler, Georg and Phelan, Catherine M. and Piedmonte, Marion and Poppe, Bruce and Pujana, Miquel Angel and Radice, Paolo and Rennert, Gad and Rodriguez, Gustavo C. and Rookus, Matti A. and Ross, Eric A. and Schmutzler, Rita Katharina and Simard, Jacques and Singer, Christian F. and Slavin, Thomas P. and Soucy, Penny and Southey, Melissa and Steinemann, Doris and Stoppa-Lyonnet, Dominique and Sukiennicki, Grzegorz and Sutter, Christian and Szabo, Csilla I. and Tea, Muy-Kheng and Teixeira, Manuel R. and Teo, Soo-Hwang and Terry, Mary Beth and Thomassen, Mads and Tibiletti, Maria Grazia and Tihomirova, Laima and Tognazzo, Silvia and van Rensburg, Elizabeth J. and Varesco, Liliana and Varon-Mateeva, Raymonda and Vratimos, Athanassios and Weitzel, Jeffrey N. and McGuffog, Lesley and Kirk, Judy and Toland, Amanda Ewart and Hamann, Ute and Lindor, Noralane and Ramus, Susan J. and Greene, Mark H. and Couch, Fergus J. and Offit, Kenneth and Pharoah, Paul D. P. and Chenevix-Trench, Georgia and Antoniou, Antonis C.},
  title     = {Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers},
  series = {PLoS ONE},
  volume    = {11},
  journal   = {PLoS ONE},
  number    = {7},
  doi       = {10.1371/journal.pone.0158801},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-166869},
  pages     = {e0158801},
  year      = {2016},
  abstract  = {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.},
  language  = {en}
}
@article{WeberLassalleHaukeRamseretal.2018,
  author    = {Weber-Lassalle, Nana and Hauke, Jan and Ramser, Juliane and Richters, Lisa and Groß, Eva and Bl{\"u}mcke, Britta and Gehrig, Andrea and Kahlert, Anne-Karin and M{\"u}ller, Clemens R. and Hackmann, Karl and Honisch, Ellen and Weber-Lassalle, Konstantin and Niederacher, Dieter and Borde, Julika and Thiele, Holger and Ernst, Corinna and Altm{\"u}ller, Janine and Neidhardt, Guido and N{\"u}rnberg, Peter and Klaschik, Kristina and Schroeder, Christopher and Platzer, Konrad and Volk, Alexander E. and Wang-Gohrke, Shan and Just, Walter and Auber, Bernd and Kubisch, Christian and Schmidt, Gunnar and Horvath, Judit and Wappenschmidt, Barbara and Engel, Christoph and Arnold, Norbert and Dworniczak, Bernd and Rhiem, Kerstin and Meindl, Alfons and Schmutzler, Rita K. and Hahnen, Eric},
  title     = {BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer},
  series = {Breast Cancer Research},
  volume    = {20},
  journal   = {Breast Cancer Research},
  doi       = {10.1186/s13058-018-0935-9},
  url       = {http://nbn-resolving.de/urn:nbn:de:bvb:20-opus-233433},
  year      = {2018},
  abstract  = {Background Germline mutations in the BRIP1 gene have been described as conferring a moderate risk for ovarian cancer (OC), while the role of BRIP1 in breast cancer (BC) pathogenesis remains controversial. Methods To assess the role of deleterious BRIP1 germline mutations in BC/OC predisposition, 6341 well-characterized index patients with BC, 706 index patients with OC, and 2189 geographically matched female controls were screened for loss-of-function (LoF) mutations and potentially damaging missense variants. All index patients met the inclusion criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for germline testing and tested negative for pathogenic BRCA1/2 variants. Results BRIP1 LoF mutations confer a high OC risk in familial index patients (odds ratio (OR) = 20.97, 95\% confidence interval (CI) = 12.02-36.57, P < 0.0001) and in the subgroup of index patients with late-onset OC (OR = 29.91, 95\% CI = 14.99-59.66, P < 0.0001). No significant association of BRIP1 LoF mutations with familial BC was observed (OR = 1.81 95\% CI = 1.00-3.30, P = 0.0623). In the subgroup of familial BC index patients without a family history of OC there was also no apparent association (OR = 1.42, 95\% CI = 0.70-2.90, P = 0.3030). In 1027 familial BC index patients with a family history of OC, the BRIP1 mutation prevalence was significantly higher than that observed in controls (OR = 3.59, 95\% CI = 1.43-9.01; P = 0.0168). Based on the negative association between BRIP1 LoF mutations and familial BC in the absence of an OC family history, we conclude that the elevated mutation prevalence in the latter cohort was driven by the occurrence of OC in these families. Compared with controls, predicted damaging rare missense variants were significantly more prevalent in OC (P = 0.0014) but not in BC (P = 0.0693) patients. Conclusions To avoid ambiguous results, studies aimed at assessing the impact of candidate predisposition gene mutations on BC risk might differentiate between BC index patients with an OC family history and those without. In familial cases, we suggest that BRIP1 is a high-risk gene for late-onset OC but not a BC predisposition gene, though minor effects cannot be excluded.},
  language  = {en}
}