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by Mavaddat, Nasim and Michailidou, Kyriaki and Dennis, Joe and Lush, Michael and Fachal, Laura and Lee, Andrew John and Tyrer, Jonathan Patrick and Chen, Ting-Huei and Wang, Qin and Bolla, Manjeet K and Yang, Xin and Adank, Muriel A and Ahearn, Thomas and Aittomäki, Kristiina and Allen, Jamie and Andrulis, Irene L and Anton-Culver, Hoda and Antonenkova, Natalia N and Arndt, Volker and Aronson, Kristan J and Auer, Paul L and Auvinen, Päivi and Barrdahl, Myrto and Beane Freeman, Laura E and Beckmann, Matthias W and Behrens, Sabine and Benitez, Javier and Bermisheva, Marina and Bernstein, Leslie and Blomqvist, Carl and Bogdanova, Natalia V and Bojesen, Stig E and Bonanni, Bernardo and Børresen-Dale, Anne-Lise and Brauch, Hiltrud and Bremer, Michael and Brenner, Hermann and Brentnall, Adam and Brock, Ian W and Brooks-Wilson, Angela and Brucker, Sara Y and Brüning, Thomas and Burwinkel, Barbara and Campa, Daniele and Carter, Brian D and Castelao, Jose E and Chanock, Stephen J and Chlebowski, Rowan and Christiansen, Hans and Clarke, Christine L and Collée, J Margriet and Cordina-Duverger, Emilie and Cornelissen, Sten and Couch, Fergus J and Cox, Angela and Cross, Simon S and Czene, Kamila and Daly, Mary B and Devilee, Peter and Dörk, Thilo and Dos-Santos-Silva, Isabel and Dumont, Martine and Durcan, Lorraine and Dwek, Miriam and Eccles, Diana M and Ekici, Arif B and Eliassen, A Heather and Ellberg, Carolina and Engel, Christoph and Eriksson, Mikael and Evans, D Gareth and Fasching, Peter A and Figueroa, Jonine and Fletcher, Olivia and Flyger, Henrik and Försti, Asta and Fritschi, Lin and Gabrielson, Marike and Gago-Dominguez, Manuela and Gapstur, Susan M and García-Sáenz, José A and Gaudet, Mia M and Georgoulias, Vassilios and Giles, Graham G and Gilyazova, Irina R and Glendon, Gord and Goldberg, Mark S and Goldgar, David E and González-Neira, Anna and Grenaker Alnæs, Grethe I and Grip, Mervi and Gronwald, Jacek and Grundy, Anne and Guénel, Pascal and Haeberle, Lothar and Hahnen, Eric and Haiman, Christopher A and Håkansson, Niclas and Hamann, Ute and Hankinson, Susan E and ...
ISSN 0002-9297, 2018
Stratification of women according to their risk of breast cancer based on polygenic risk scores (PRS) could improve screening and prevention strategies. Our... 
kConFab/AOCS Investigators | ABCTB Investigators | NBCS Collaborators
Journal Article
by Hamdi, Y and Soucy, P and Kuchenbaeker, K.B and Pastinen, T and it, A and Lemacon, A and Adlard, J and Aittomaki, K and Anulis, I.L and Arason, A and Arnold, N and Arun, B.K and Azzollini, J and Bane, A and Barjhoux, L and Barrowdale, D and Benitez, J and Berthet, P and Blok, M.J and Bobolis, K and Bonadona, V and Bonanni, B and Bradbury, A.R and Brewer, C and Buecher, B and Buys, S.S and Caligo, M.A and Chiquette, J and Chung, W.K and Claes, K.B and Daly, M.B and Damiola, F and Davidson, R and Hoya, M. de la and Leeneer, K. De and Diez, O and Ding, Y.C and Dolcetti, R and Domchek, S.M and Dorfling, C.M and Eccles, D and Eeles, R and Einbeigi, Z and Ejlertsen, B and Engel, C and Evans, D and Feliubadalo, L and Foretova, L and Fostira, F and Foulkes, W.D and Fountzilas, G and Friedman, E and Frost, D and Ganschow, P and Ganz, P.A and Garber, J and Gayther, S.A and Gerdes, A.M and Glendon, G and Godwin, A.K and Goldgar, D.E and Greene, M.H and Gronwald, J and Hahnen, E and Hamann, U and Hansen, T.V and Hart, S and Hays, J.L and Hogervorst, F.B and Hulick, P.J and Imyanitov, E.N and Isaacs, C and Izatt, L and Jakubowska, A and James, P and Janavicius, R and Jensen, U.B and John, E.M and Joseph, V and Just, W and Kaczmarek, K and Karlan, B.Y and Kets, C.M and Kirk, J and Kriege, M and Laitman, Y and Laurent, M and Lazaro, C and Leslie, G and Lester, J and Lesueur, F and Liljegren, A and Loman, N and Loud, J.T and Manoukian, S and Mariani, M and Mazoyer, S and McGuffog, L and Meijers-Heijboer, H.E and Meindl, A and ...
Breast Cancer Research and Treatment, ISSN 0167-6806, 2017, Volume 161, Issue 1, pp. 117 - 134
PURPOSE: Cis-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenotypic variation associated... 
EMBRACE | HEBON | GEMO Study Collaborators | KConFab Investigators
Journal Article
Nature Genetics, ISSN 1061-4036, 06/2017, Volume 49, Issue 6, pp. 834 - 841
The timing of puberty is a highly polygenic childhood trait that is epidemiologically associated with various adult diseases. Using 1000 Genomes... 
REGRESSION | METAANALYSIS | METABOLISM | GROWTH | BODY-MASS INDEX | LOCI | WIDE ASSOCIATION | MENDELIAN RANDOMIZATION | TRAITS | INHERITANCE | GENETICS & HEREDITY | Body Mass Index | Genomic Imprinting | Genetic Predisposition to Disease | Genome-Wide Association Study | Age Factors | Membrane Proteins - genetics | Menarche - genetics | Humans | Risk Factors | Intercellular Signaling Peptides and Proteins - genetics | Databases, Genetic | Male | Puberty - genetics | Neoplasms - genetics | Adolescent | Female | Ribonucleoproteins - genetics | Polymorphism, Single Nucleotide | Quantitative Trait Loci | Genetic variation | Menarche | Genetic aspects | Gene expression | Health aspects | Carcinogenesis | Risk factors | Enrichment | Transcription | Laboratories | Genomics | Genes | Risk | Genomes | Tissues | Preadipocyte factor 1 | Epidemiology | Variance | Complexity | Body mass index | Mens health | Randomization | Coding | Genetics | Trends | Children | Endometrium | Public health | Age | Medical research | Puberty | Internal medicine | Gynecology | Health risks | Time measurement | Obstetrics | Diseases | Medicine | Studies | Hospitals | Body mass | Womens health | Men | Breast | Links | Heritability | Polygenic inheritance | Prostate cancer | Prostate | Endocrinology | Cancer | InterAct Consortium | AOCS Investigators | PRACTICAL consortium | Endometrial Cancer Association Consortium | Ovarian Cancer Association Consortium | LifeLines Cohort Study | kConFab
Journal Article
Journal Article
by Shimelis, Hermela and Mesman, Romy L. S and Von Nicolai, Catharina and Ehlen, Asa and Guidugli, Lucia and Martin, Charlotte and Calléja, Fabienne M. G. R and Meeks, Huong and Hallberg, Emily and Hinton, Jamie and Lilyquist, Jenna and Hu, Chunling and Aalfs, Cora M and Aittomäki, Kristiina and Anulis, Irene and Anton-Culver, Hoda and Arndt, Volker and Beckmann, Matthias W and Benitez, Javier and Bogdanova, Natalia V and Bojesen, Stig E and Bolla, Manjeet K and Borresen-Dale, Anne-Lise and Brauch, Hiltrud and Brennan, Paul and Brenner, Hermann and Broeks, Annegien and Brouwers, Barbara and Brüning, Thomas and Burwinkel, Barbara and Chang-Claude, Jenny and Chenevix-Trench, Georgia and Cheng, Ching-Yu and Choi, Ji-Yeob and Collée, J. Margriet and Cox, Angela and Cross, Simon S and Czene, Kamila and Darabi, Hatef and Dennis, Joe and Dörk, Thilo and Dos-Santos-Silva, Isabel and Dunning, Alison M and Fasching, Peter A and Figueroa, Jonine and Flyger, Henrik and García-Closas, Montserrat and Giles, Graham G and Glendon, Gord and Guénel, Pascal and Haiman, Christopher A and Hall, Per and Hamann, Ute and Hartman, Mikael and Hogervorst, Frans B and Hollestelle, Antoinette and Hopper, John L and Ito, Hidemi and Jakubowska, Anna and Kang, Daehee and Kosma, Veli-Matti and Kristensen, Vessela and Lai, Kah-Nyin and Lambrechts, Diether and Marchand, Loic Le and Li, Jingmei and Lindblom, Annika and Lophatananon, Artitaya and Lubinski, Jan and Machackova, Eva and Mannermaa, Arto and Margolin, Sara and Marme, Frederik and Matsuo, Keitaro and Miao, Hui and Michailidou, Kyriaki and Milne, Roger L and Muir, Kenneth and Neuhausen, Susan L and Nevanlinna, Heli and Olson, Janet E and Olswold, Curtis and Oosterwijk, Jan J. C and Osorio, Ana and Peterlongo, Paolo and Peto, Julian and Pharoah, Paul D. P and Pylkäs, Katri and Radice, Paolo and Rashid, Muhammad Usman and Rhenius, Valerie and Rudolph, Anja and Sangrajrang, Suleeporn and Sawyer, Elinor J and Schmidt, Marjanka K and Schoemaker, Minouk J and Seynaeve, Caroline and Shah, Mitul and Shen, Chen-Yang and Shrubsole, Martha and ... and for kConFab/AOCS Investigators and for NBCS Collaborators
Cancer research, ISSN 0008-5472, 2017, Volume 77, Issue 11, pp. 2789 - 2799
Breast cancer risks conferred by many germline missense variants in the BRCA1 and BRCA2 genes, often referred to as variants of uncertain significance (VUS),... 
Humans | Genotype | Risk | Mutation, Missense | Case-Control Studies | Animals | Breast Neoplasms - genetics | Germ-Line Mutation | Female | Aged | Mice | BRCA2 Protein - genetics | Amino Acid Substitution | for kConFab/AOCS Investigators | for NBCS Collaborators
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 07/2018, Volume 50, Issue 7, pp. 968 - +
Breast cancer risk variants identified in genome-wide association studies explain only a small fraction of familial relative risk, and genes responsible for... 
b_open_article_in_toll_access_journal | kConFab/AOCS Investigators | NBCS Collaborators | Clinical Medicine | Medicinsk genetik | Basic Medicine | Medical Genetics | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper | Klinisk medicin | Cancer and Oncology | Cancer och onkologi
Journal Article
ISSN 1465-5411, 2018
Background: The association between body mass index (BMI) and risk of breast cancer depends on time of life, but it is unknown whether this association depends... 
kConFab Investigators
Journal Article
Human Mutation, ISSN 1059-7794, 05/2018, Volume 39, Issue 5, pp. 729 - 741
Although the spliceogenic nature of the BRCA2 c.68-7T>A variant has been demonstrated, its association with cancer risk remains ontroversial. In this study, we... 
digital PCR | RNA | multifactorial likelihood analysis | SEQUENCE VARIANTS | RISK | UNCLASSIFIED VARIANTS | BRCA2 | quantitative real-time PCR | FANCONI-ANEMIA | CANCER | BREAST | INTEGRATED EVALUATION | spliceogenic variants | GENES | MUTATIONS | kConFab/AOCS Investigators
Journal Article
Journal Article
European Journal of Cancer, ISSN 0959-8049, 10/2017, Volume 84, pp. 114 - 120
Journal Article
by Brouckaert, Olivier and Rudolph, Anja and Laenen, Annouschka and Keeman, Renske and Bolla, Manjeet K and Wang, Qin and Soubry, Adelheid and Wildiers, Hans and Andrulis, Irene L and Arndt, Volker and Beckmann, Matthias W and Benitez, Javier and Blomqvist, Carl and Bojesen, Stig E and Brauch, Hiltrud and Brennan, Paul and Brenner, Hermann and Chenevix-Trench, Georgia and Choi, Ji-Yeob and Cornelissen, Sten and Couch, Fergus J and Cox, Angela and Cross, Simon S and Czene, Kamila and Eriksson, Mikael and Fasching, Peter A and Figueroa, Jonine and Flyger, Henrik and Giles, Graham G and González-Neira, Anna and Guénel, Pascal and Hall, Per and Hollestelle, Antoinette and Hopper, John L and Ito, Hidemi and Jones, Michael and Kang, Daehee and Knight, Julia A and Kosma, Veli-Matti and Li, Jingmei and Lindblom, Annika and Lilyquist, Jenna and Lophatananon, Artitaya and Mannermaa, Arto and Manoukian, Siranoush and Margolin, Sara and Matsuo, Keitaro and Muir, Kenneth and Nevanlinna, Heli and Peterlongo, Paolo and Pylkäs, Katri and Saajrang, Suleeporn and Seynaeve, Caroline and Shen, Chen-Yang and Shu, Xiao-Ou and Southey, Melissa C and Swerdlow, Anthony and Teo, Soo-Hwang and Tollenaar, Rob A E M and Truong, Thérèse and Tseng, Chiu-Chen and van den Broek, Alexandra J and van Deurzen, Carolien H M and Winqvist, Robert and Wu, Anna H and Yip, Cheng Har and Yu, Jyh-Cherng and Zheng, Wei and Milne, Roger L and Pharoah, Paul D P and Easton, Douglas F and Schmidt, Marjanka K and Garcia-Closas, Montserrat and Chang-Claude, Jenny and Lambrechts, Diether and Neven, Patrick and kConFab
Breast cancer research : BCR, ISSN 1465-5411, 11/2017, Volume 19, Issue 1, p. 119
Previous studies have shown that reproductive factors are differentially associated with breast cancer (BC) risk by subtypes. The aim of this study was to... 
Risk Assessment | Triple Negative Breast Neoplasms | Humans | Risk Factors | Middle Aged | Breast Neoplasms | Biomarkers, Tumor | kConFab | Young Adult | Reproductive History | Adult | Female | Aged | Odds Ratio | Cohort Studies
Journal Article
by Li, Jingmei and Lindström, Linda S and Foo, Jia N and Rafiq, Sajjad and Schmidt, Marjanka K and Pharoah, Paul D P and Michailidou, Kyriaki and Dennis, Joe and Bolla, Manjeet K and Wang, Qin and Van 't Veer, Laura J and Cornelissen, Sten and Rutgers, Emiel and Southey, Melissa C and Apicella, Carmel and Dite, Gillian S and Hopper, John L and Fasching, Peter A and Haeberle, Lothar and Ekici, Arif B and Beckmann, Matthias W and Blomqvist, Carl and Muranen, Taru A and Aittomäki, Kristiina and Lindblom, Annika and Margolin, Sara and Mannermaa, Arto and Kosma, Veli-Matti and Hartikainen, Jaana M and Kataja, Vesa and Chenevix-Trench, Georgia and Phillips, Kelly-Anne and McLachlan, Sue-Anne and Lambrechts, Diether and Thienpont, Bernard and Smeets, Ann and Wildiers, Hans and Chang-Claude, Jenny and Flesch-Janys, Dieter and Seibold, Petra and Rudolph, Anja and Giles, Graham G and Baglietto, Laura and Severi, Gianluca and Haiman, Christopher A and Henderson, Brian E and Schumacher, Fredrick and Le Marchand, Loic and Kristensen, Vessela and Alnæs, Grethe I Grenaker and Borresen-Dale, Anne-Lise and Nord, Silje and Winqvist, Robert and Pylkäs, Katri and Jukkola-Vuorinen, Arja and Grip, Mervi and Andrulis, Irene L and Knight, Julia A and Glendon, Gord and Tchatchou, Sandrine and Devilee, Peter and Tollenaar, Robert and Seynaeve, Caroline and Hooning, Maartje and Kriege, Mieke and Hollestelle, Antoinette and van den Ouweland, Ans and Li, Yi and Hamann, Ute and Torres, Diana and Ulmer, Hans U and Rüdiger, Thomas and Shen, Chen-Yang and Hsiung, Chia-Ni and Wu, Pei-Ei and Chen, Shou-Tung and Teo, Soo Hwang and Taib, Nur Aishah Mohd and Har Yip, Cheng and Fuang Ho, Gwo and Matsuo, Keitaro and Ito, Hidemi and Iwata, Hiroji and Tajima, Kazuo and Kang, Daehee and Choi, Ji-Yeob and Park, Sue K and Yoo, Keun-Young and Maishman, Tom and Tapper, William J and Dunning, Alison and Shah, Mitul and Luben, Robert and Brown, Judith and Khor, Chiea Chuen and Eccles, Diana M and Nevanlinna, Heli and Easton, Douglas and Humphreys, Keith and Liu, Jianjun and ... and kConFab Investigators
Nature communications, ISSN 2041-1723, 06/2014, Volume 5, p. 4051
Journal Article
by Perry, J.R and Day, F and Elks, C.E and Sulem, P and Thompson, D.J and Ferreira, T and He, C and Chasman, D.I and Esko, T and Thorleifsson, G and Albrecht, E and Ang, W.Q and Corre, T and Cousminer, D.L and Feenstra, B and Franceschini, N and Ganna, A and Johnson, A.D and Kjellqvist, S and Lunetta, K.L and McMahon, G and Nolte, I.M and Paternoster, L and Porcu, E and Smith, A.V and Stolk, L and Teumer, A and Tsernikova, N and Tikkanen, E and Ulivi, S and Wagner, E.K and Amin, N and Bierut, L.J and Byrne, E.M and Hottenga, J.J and Koller, D.L and Mangino, M and Pers, T.H and Yerges-Armstrong, L.M and Zhao, J and Anulis, I.L and Anton-Culver, H and Atsma, F and Bandinelli, S and Beckmann, M.W and Benitez, J and Blomqvist, C and Bojesen, S.E and Bolla, M.K and Bonanni, B and Brauch, H and Brenner, H and Buring, J.E and Chang-Claude, J and Chanock, S and Chen, J and Chenevix-Trench, G and Collee, J.M and Couch, F.J and Couper, D and Coviello, A.D and Cox, A and Czene, K and D'Adamo, P and Smith, G and Vivo, I. De and Demerath, E.W and Dennis, J and Devilee, P and Dieffenbach, A.K and Dunning, A.M and Eiriksdottir, G and Eriksson, J.G and Fasching, P.A and Ferrucci, L and Flesch-Janys, D and Flyger, H and Foroud, T and Franke, L and Garcia, M.E and Garcia-Closas, M and Geller, F and Geus, E.E. de and Giles, G.G and Gudbjartsson, D.F and Gudnason, V and Guenel, P and Guo, S and Hall, P and Hamann, U and Haring, R and Hartman, C.A and Heath, A.C and Hofman, A and Hooning, M.J and Hopper, J.L and Hu, F.B and Hunter, D.J and Karasik, D and Kiel, D.P and ...
Nature, ISSN 0028-0836, 2014, Volume 514, Issue 7520, pp. 92 - 97
Journal Article