Recent submissions

  • The risk of ovarian cancer increases with an increase in the lifetime number of ovulatory cycles: an analysis from the Ovarian Cancer Cohort Consortium (OC3). 

    Trabert, B; Tworoger, SS; O'Brien, KM; Townsend, MK; Fortner, RT; Iversen, ES; Hartge, P; White, E; Amiano, P; Arslan, AA; Bernstein, L; Brinton, LA; Buring, JE; Dossus, L; Fraser, GE; Gaudet, MM; Giles, GG; Gram, IT; Harris, HR; Hoffman Bolton, J; Idahl, A; Jones, ME; Kaaks, R; Kirsh, VA; Knutsen, SF; Kvaskoff, M; Lacey, JV; Lee, I-M; Milne, RL; Onland-Moret, NC; Overvad, K; Patel, AV; Peters, U; Poynter, JN; Riboli, E; Robien, K; Rohan, TE; Sandler, DP; Schairer, C; Schouten, LJ; Setiawan, VW; Swerdlow, AJ; Travis, RC; Trichopoulou, A; van den Brandt, PA; Visvanathan, K; Wilkens, LR; Wolk, A; Zeleniuch-Jacquotte, A; Wentzensen, N (2020-01-13)
    Repeated exposure to the acute pro-inflammatory environment that follows ovulation at the ovarian surface and distal fallopian tube over a woman's reproductive years may increase ovarian cancer risk. To address this, ...
  • Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis. 

    Shu, X; Wu, L; Khankari, NK; Shu, X-O; Wang, TJ; Michailidou, K; Bolla, MK; Wang, Q; Dennis, J; Milne, RL; Schmidt, MK; Pharoah, PDP; Andrulis, IL; Hunter, DJ; Simard, J; Easton, DF; Zheng, W; Breast Cancer Association Consortium (2019-06)
    BACKGROUND:In addition to the established association between general obesity and breast cancer risk, central obesity and circulating fasting insulin and glucose have been linked to the development of this common malignancy. ...
  • Germline genetic variation in prostate susceptibility does not predict outcomes in the chemoprevention trials PCPT and SELECT. 

    Ahmed, M; Goh, C; Saunders, E; Cieza-Borrella, C; PRACTICAL consortium; Kote-Jarai, Z; Schumacher, FR; Eeles, R (2019-11-27)
    BACKGROUND:The development of prostate cancer can be influenced by genetic and environmental factors. Numerous germline SNPs influence prostate cancer susceptibility. The functional pathways in which these SNPs increase ...
  • Familial Risks and Mortality in Second Primary Cancers in Melanoma. 

    Chattopadhyay, S; Hemminki, A; Försti, A; Sundquist, K; Sundquist, J; Hemminki, K (2018-10)
    Background: Malignant melanoma (MM) patients are at increasing risk of developing second primary cancers (SPCs). We assessed mortality and risk of SPCs in MM patients with siblings or parents affected with same cancer ...
  • Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers. 

    Page, EC; Bancroft, EK; Brook, MN; Assel, M; Hassan Al Battat, M; Thomas, S; Taylor, N; Chamberlain, A; Pope, J; Raghallaigh, HN; Evans, DG; Rothwell, J; Maehle, L; Grindedal, EM; James, P; Mascarenhas, L; McKinley, J; Side, L; Thomas, T; van Asperen, C; Vasen, H; Kiemeney, LA; Ringelberg, J; Jensen, TD; Osther, PJS; Helfand, BT; Genova, E; Oldenburg, RA; Cybulski, C; Wokolorczyk, D; Ong, K-R; Huber, C; Lam, J; Taylor, L; Salinas, M; Feliubadaló, L; Oosterwijk, JC; van Zelst-Stams, W; Cook, J; Rosario, DJ; Domchek, S; Powers, J; Buys, S; O'Toole, K; Ausems, MGEM; Schmutzler, RK; Rhiem, K; Izatt, L; Tripathi, V; Teixeira, MR; Cardoso, M; Foulkes, WD; Aprikian, A; van Randeraad, H; Davidson, R; Longmuir, M; Ruijs, MWG; Helderman van den Enden, ATJM; Adank, M; Williams, R; Andrews, L; Murphy, DG; Halliday, D; Walker, L; Liljegren, A; Carlsson, S; Azzabi, A; Jobson, I; Morton, C; Shackleton, K; Snape, K; Hanson, H; Harris, M; Tischkowitz, M; Taylor, A; Kirk, J; Susman, R; Chen-Shtoyerman, R; Spigelman, A; Pachter, N; Ahmed, M; Ramon Y Cajal, T; Zgajnar, J; Brewer, C; Gadea, N; Brady, AF; van Os, T; Gallagher, D; Johannsson, O; Donaldson, A; Barwell, J; Nicolai, N; Friedman, E; Obeid, E; Greenhalgh, L; Murthy, V; Copakova, L; Saya, S; McGrath, J; Cooke, P; Rønlund, K; Richardson, K; Henderson, A; Teo, SH; Arun, B; Kast, K; Dias, A; Aaronson, NK; Ardern-Jones, A; Bangma, CH; Castro, E; Dearnaley, D; Eccles, DM; Tricker, K; Eyfjord, J; Falconer, A; Foster, C; Gronberg, H; Hamdy, FC; Stefansdottir, V; Khoo, V; Lindeman, GJ; Lubinski, J; Axcrona, K; Mikropoulos, C; Mitra, A; Moynihan, C; Rennert, G; Suri, M; Wilson, P; Dudderidge, T; IMPACT Study Collaborators; Offman, J; Kote-Jarai, Z; Vickers, A; Lilja, H; Eeles, RA (2019-12)
    BACKGROUND:Mutations in BRCA2 cause a higher risk of early-onset aggressive prostate cancer (PrCa). The IMPACT study is evaluating targeted PrCa screening using prostate-specific-antigen (PSA) in men with germline BRCA1/2 ...
  • Psychosocial effects of whole-body MRI screening in adult high-risk pathogenic TP53 mutation carriers: a case-controlled study (SIGNIFY). 

    Bancroft, EK; Saya, S; Brown, E; Thomas, S; Taylor, N; Rothwell, J; Pope, J; Chamberlain, A; Page, E; Benafif, S; Hanson, H; Dias, A; Mikropoulos, C; Izatt, L; Side, L; Walker, L; Donaldson, A; Cook, JA; Barwell, J; Wiles, V; Limb, L; Eccles, DM; Leach, MO; Shanley, S; Gilbert, FJ; Gallagher, D; Rajashanker, B; Whitehouse, RW; Koh, D-M; Sohaib, SA; Evans, DG; Eeles, RA; Walker, LG (2019-11-12)
    BACKGROUND:Germline TP53 gene pathogenic variants (pv) cause a very high lifetime risk of developing cancer, almost 100% for women and 75% for men. In the UK, annual MRI breast screening is recommended for female TP53 pv ...
  • Comparative validation of breast cancer risk prediction models and projections for future risk stratification. 

    Choudhury, PP; Wilcox, AN; Brook, MN; Zhang, Y; Ahearn, T; Orr, N; Coulson, P; Schoemaker, MJ; Jones, ME; Gail, MH; Swerdlow, AJ; Chatterjee, N; Garcia-Closas, M (2019-06-04)
    External validation of risk models is critical for risk stratified breast cancer prevention. We used the Individualized Coherent Absolute Risk Estimation (iCARE) as a flexible tool for risk model development, comparative ...
  • Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group. 

    Nielsen, SM; Eccles, DM; Romero, IL; Al-Mulla, F; Balmaña, J; Biancolella, M; Bslok, R; Caligo, MA; Calvello, M; Capone, GL; Cavalli, P; Chan, TLC; Claes, KBM; Cortesi, L; Couch, FJ; de la Hoya, M; De Toffol, S; Diez, O; Domchek, SM; Eeles, R; Efremidis, A; Fostira, F; Goldgar, D; Hadjisavvas, A; Hansen, TVO; Hirasawa, A; Houdayer, C; Kleiblova, P; Krieger, S; Lázaro, C; Loizidou, M; Manoukian, S; Mensenkamp, AR; Moghadasi, S; Monteiro, AN; Mori, L; Morrow, A; Naldi, N; Nielsen, HR; Olopade, OI; Pachter, NS; Palmero, EI; Pedersen, IS; Piane, M; Puzzo, M; Robson, M; Rossing, M; Sini, MC; Solano, A; Soukupova, J; Tedaldi, G; Teixeira, M; Thomassen, M; Tibiletti, MG; Toland, A; Törngren, T; Vaccari, E; Varesco, L; Vega, A; Wallis, Y; Wappenschmidt, B; Weitzel, J; Spurdle, AB; De Nicolo, A; Gómez-García, EB (2018-01)
    Purpose:To describe a snapshot of international genetic testing practices, specifically regarding the use of multigene panels, for hereditary breast/ovarian cancers. We conducted a survey through the Evidence-Based Network ...
  • Epigenome-wide association study for lifetime estrogen exposure identifies an epigenetic signature associated with breast cancer risk. 

    Johansson, A; Palli, D; Masala, G; Grioni, S; Agnoli, C; Tumino, R; Giurdanella, MC; Fasanelli, F; Sacerdote, C; Panico, S; Mattiello, A; Polidoro, S; Jones, ME; Schoemaker, MJ; Orr, N; Tomczyk, K; Johnson, N; Fletcher, O; Perduca, V; Baglietto, L; Dugué, P-A; Southey, MC; Giles, GG; English, DR; Milne, RL; Severi, G; Ambatipudi, S; Cuenin, C; Chajès, V; Romieu, I; Herceg, Z; Swerdlow, AJ; Vineis, P; Flanagan, JM (2019-04-30)
    BACKGROUND:It is well established that estrogens and other hormonal factors influence breast cancer susceptibility. We hypothesized that a woman's total lifetime estrogen exposure accumulates changes in DNA methylation, ...
  • Two truncating variants in FANCC and breast cancer risk. 

    Dörk, T; Peterlongo, P; Mannermaa, A; Bolla, MK; Wang, Q; Dennis, J; Ahearn, T; Andrulis, IL; Anton-Culver, H; Arndt, V; Aronson, KJ; Augustinsson, A; Freeman, LEB; Beckmann, MW; Beeghly-Fadiel, A; Behrens, S; Bermisheva, M; Blomqvist, C; Bogdanova, NV; Bojesen, SE; Brauch, H; Brenner, H; Burwinkel, B; Canzian, F; Chan, TL; Chang-Claude, J; Chanock, SJ; Choi, J-Y; Christiansen, H; Clarke, CL; Couch, FJ; Czene, K; Daly, MB; Dos-Santos-Silva, I; Dwek, M; Eccles, DM; Ekici, AB; Eriksson, M; Evans, DG; Fasching, PA; Figueroa, J; Flyger, H; Fritschi, L; Gabrielson, M; Gago-Dominguez, M; Gao, C; Gapstur, SM; García-Closas, M; García-Sáenz, JA; Gaudet, MM; Giles, GG; Goldberg, MS; Goldgar, DE; Guénel, P; Haeberle, L; Haiman, CA; Håkansson, N; Hall, P; Hamann, U; Hartman, M; Hauke, J; Hein, A; Hillemanns, P; Hogervorst, FBL; Hooning, MJ; Hopper, JL; Howell, T; Huo, D; Ito, H; Iwasaki, M; Jakubowska, A; Janni, W; John, EM; Jung, A; Kaaks, R; Kang, D; Kapoor, PM; Khusnutdinova, E; Kim, S-W; Kitahara, CM; Koutros, S; Kraft, P; Kristensen, VN; Kwong, A; Lambrechts, D; Marchand, LL; Li, J; Lindström, S; Linet, M; Lo, W-Y; Long, J; Lophatananon, A; Lubiński, J; Manoochehri, M; Manoukian, S; Margolin, S; Martinez, E; Matsuo, K; Mavroudis, D; Meindl, A; Menon, U; Milne, RL; Mohd Taib, NA; Muir, K; Mulligan, AM; Neuhausen, SL; Nevanlinna, H; Neven, P; Newman, WG; Offit, K; Olopade, OI; Olshan, AF; Olson, JE; Olsson, H; Park, SK; Park-Simon, T-W; Peto, J; Plaseska-Karanfilska, D; Pohl-Rescigno, E; Presneau, N; Rack, B; Radice, P; Rashid, MU; Rennert, G; Rennert, HS; Romero, A; Ruebner, M; Saloustros, E; Schmidt, MK; Schmutzler, RK; Schneider, MO; Schoemaker, MJ; Scott, C; Shen, C-Y; Shu, X-O; Simard, J; Slager, S; Smichkoska, S; Southey, MC; Spinelli, JJ; Stone, J; Surowy, H; Swerdlow, AJ; Tamimi, RM; Tapper, WJ; Teo, SH; Terry, MB; Toland, AE; Tollenaar, RAEM; Torres, D; Torres-Mejía, G; Troester, MA; Truong, T; Tsugane, S; Untch, M; Vachon, CM; Ouweland, AMWVD; Veen, EMV; Vijai, J; Wendt, C; Wolk, A; Yu, J-C; Zheng, W; Ziogas, A; Ziv, E; ABCTB Investigators; NBCS Collaborators; Dunning, AM; Pharoah, PDP; Schindler, D; Devilee, P; Easton, DF (2019-08-29)
    Fanconi anemia (FA) is a genetically heterogeneous disorder with 22 disease-causing genes reported to date. In some FA genes, monoallelic mutations have been found to be associated with breast cancer risk, while the risk ...
  • Lack of association between modifiable exposures and glioma risk: A Mendelian randomisation analysis. 

    Saunders, CN; Cornish, AJ; Kinnersley, B; Law, PJ; Claus, EB; Il'yasova, D; Schildkraut, J; Barnholtz-Sloan, JS; Olson, SH; Bernstein, JL; Lai, RK; Chanock, S; Rajaraman, P; Johansen, C; Jenkins, RB; Melin, BS; Wrensch, MR; Sanson, M; Bondy, ML; Houlston, RS (2019-10-30)
    BACKGROUND:The etiological basis of glioma is poorly understood. We have used genetic markers in a Mendelian Randomisation (MR) framework to examine if lifestyle, cardiometabolic and inflammatory factors influence the risk ...
  • Patterns of recurrence after prostate bed radiotherapy. 

    Brand, DH; Parker, JI; Dearnaley, DP; Eeles, R; Huddart, R; Khoo, V; Murray, J; Suh, Y-E; Tree, AC; van As, N; Parker, C (2019-12)
    BACKGROUND AND PURPOSE:Prostate bed radiotherapy is a standard treatment after radical prostatectomy. Recent evidence suggests that, for patients with a PSA > 0.34 ng/ml, the radiotherapy treatment volume should include ...
  • Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers. 

    Kuchenbaecker, KB; McGuffog, L; Barrowdale, D; Lee, A; Soucy, P; Dennis, J; Domchek, SM; Robson, M; Spurdle, AB; Ramus, SJ; Mavaddat, N; Terry, MB; Neuhausen, SL; Schmutzler, RK; Simard, J; Pharoah, PDP; Offit, K; Couch, FJ; Chenevix-Trench, G; Easton, DF; Antoniou, AC (2017-07-01)
    Background: Genome-wide association studies (GWAS) have identified 94 common single-nucleotide polymorphisms (SNPs) associated with breast cancer (BC) risk and 18 associated with ovarian cancer (OC) risk. Several of these ...
  • Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study. 

    Nyberg, T; Frost, D; Barrowdale, D; Evans, DG; Bancroft, E; Adlard, J; Ahmed, M; Barwell, J; Brady, AF; Brewer, C; Cook, J; Davidson, R; Donaldson, A; Eason, J; Gregory, H; Henderson, A; Izatt, L; Kennedy, MJ; Miller, C; Morrison, PJ; Murray, A; Ong, K-R; Porteous, M; Pottinger, C; Rogers, MT; Side, L; Snape, K; Walker, L; Tischkowitz, M; Eeles, R; Easton, DF; Antoniou, AC (2020-01)
    BACKGROUND:BRCA1 and BRCA2 mutations have been associated with prostate cancer (PCa) risk but a wide range of risk estimates have been reported that are based on retrospective studies. OBJECTIVE:To estimate relative and ...
  • Oral Contraceptive Use and Breast Cancer Risk: Retrospective and Prospective Analyses From a BRCA1 and BRCA2 Mutation Carrier Cohort Study. 

    Schrijver, LH; Olsson, H; Phillips, K-A; Terry, MB; Goldgar, DE; Kast, K; Engel, C; Mooij, TM; Adlard, J; Barrowdale, D; Davidson, R; Eeles, R; Ellis, S; Evans, DG; Frost, D; Izatt, L; Porteous, ME; Side, LE; Walker, L; Berthet, P; Bonadona, V; Leroux, D; Mouret-Fourme, E; Venat-Bouvet, L; Buys, SS; Southey, MC; John, EM; Chung, WK; Daly, MB; Bane, A; van Asperen, CJ; Gómez Garcia, EB; Mourits, MJE; van Os, TAM; Roos-Blom, M-J; Friedlander, ML; McLachlan, S-A; Singer, CF; Tan, YY; Foretova, L; Navratilova, M; Gerdes, A-M; Caldes, T; Simard, J; Olah, E; Jakubowska, A; Arver, B; Osorio, A; Noguès, C; Andrieu, N; Easton, DF; van Leeuwen, FE; Hopper, JL; Milne, RL; Antoniou, AC; Rookus, MA; EMBRACE, GENEPSO, BCFR, HEBON, kConFab, and IBCCS (2018-04)
    Background:For BRCA1 and BRCA2 mutation carriers, the association between oral contraceptive preparation (OCP) use and breast cancer (BC) risk is still unclear. Methods:Breast camcer risk associations were estimated from ...
  • Modifiable pathways for colorectal cancer: a mendelian randomisation analysis. 

    Cornish, AJ; Law, PJ; Timofeeva, M; Palin, K; Farrington, SM; Palles, C; Jenkins, MA; Casey, G; Brenner, H; Chang-Claude, J; Hoffmeister, M; Kirac, I; Maughan, T; Brezina, S; Gsur, A; Cheadle, JP; Aaltonen, LA; Tomlinson, I; Dunlop, MG; Houlston, RS (2020-01)
    BACKGROUND:Epidemiological studies have linked lifestyle, cardiometabolic, reproductive, developmental, and inflammatory factors to the risk of colorectal cancer. However, which specific factors affect risk and the strength ...
  • Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers. 

    Qian, F; Rookus, MA; Leslie, G; Risch, HA; Greene, MH; Aalfs, CM; Adank, MA; Adlard, J; Agnarsson, BA; Ahmed, M; Aittomäki, K; Andrulis, IL; Arnold, N; Arun, BK; Ausems, MGEM; Azzollini, J; Barrowdale, D; Barwell, J; Benitez, J; Białkowska, K; Bonadona, V; Borde, J; Borg, A; Bradbury, AR; Brunet, J; Buys, SS; Caldés, T; Caligo, MA; Campbell, I; Carter, J; Chiquette, J; Chung, WK; Claes, KBM; Collée, JM; Collonge-Rame, M-A; Couch, FJ; Daly, MB; Delnatte, C; Diez, O; Domchek, SM; Dorfling, CM; Eason, J; Easton, DF; Eeles, R; Engel, C; Evans, DG; Faivre, L; Feliubadaló, L; Foretova, L; Friedman, E; Frost, D; Ganz, PA; Garber, J; Garcia-Barberan, V; Gehrig, A; Glendon, G; Godwin, AK; Gómez Garcia, EB; Hamann, U; Hauke, J; Hopper, JL; Hulick, PJ; Imyanitov, EN; Isaacs, C; Izatt, L; Jakubowska, A; Janavicius, R; John, EM; Karlan, BY; Kets, CM; Laitman, Y; Lázaro, C; Leroux, D; Lester, J; Lesueur, F; Loud, JT; Lubiński, J; Łukomska, A; McGuffog, L; Mebirouk, N; Meijers-Heijboer, HEJ; Meindl, A; Miller, A; Montagna, M; Mooij, TM; Mouret-Fourme, E; Nathanson, KL; Nehoray, B; Neuhausen, SL; Nevanlinna, H; Nielsen, FC; Offit, K; Olah, E; Ong, K-R; Oosterwijk, JC; Ottini, L; Parsons, MT; Peterlongo, P; Pfeiler, G; Pradhan, N; Radice, P; Ramus, SJ; Rantala, J; Rennert, G; Robson, M; Rodriguez, GC; Salani, R; Scheuner, MT; Schmutzler, RK; Shah, PD; Side, LE; Simard, J; Singer, CF; Steinemann, D; Stoppa-Lyonnet, D; Tan, YY; Teixeira, MR; Terry, MB; Thomassen, M; Tischkowitz, M; Tognazzo, S; Toland, AE; Tung, N; van Asperen, CJ; van Engelen, K; van Rensburg, EJ; Venat-Bouvet, L; Vierstraete, J; Wagner, G; Walker, L; Weitzel, JN; Yannoukakos, D; KConFab Investigators; HEBON Investigators; GEMO Study Collaborators; EMBRACE Collaborators; Antoniou, AC; Goldgar, DE; Olopade, OI; Chenevix-Trench, G; Rebbeck, TR; Huo, D; CIMBA (2019-07)
    BACKGROUND:Height and body mass index (BMI) are associated with higher ovarian cancer risk in the general population, but whether such associations exist among BRCA1/2 mutation carriers is unknown. METHODS:We applied a ...
  • Runs of homozygosity and testicular cancer risk. 

    Loveday, C; Sud, A; Litchfield, K; Levy, M; Holroyd, A; Broderick, P; Kote-Jarai, Z; Dunning, AM; Muir, K; Peto, J; Eeles, R; Easton, DF; Dudakia, D; Orr, N; Pashayan, N; UK Testicular Cancer Collaboration; PRACTICAL Consortium; Reid, A; Huddart, RA; Houlston, RS; Turnbull, C (2019-07)
    BACKGROUND:Testicular germ cell tumour (TGCT) is highly heritable but > 50% of the genetic risk remains unexplained. Epidemiological observation of greater relative risk to brothers of men with TGCT compared to sons has ...
  • Mutational processes contributing to the development of multiple myeloma. 

    Hoang, PH; Cornish, AJ; Dobbins, SE; Kaiser, M; Houlston, RS (2019-08-06)
    To gain insight into multiple myeloma (MM) tumorigenesis, we analyzed the mutational signatures in 874 whole-exome and 850 whole-genome data from the CoMMpass Study. We identified that coding and non-coding regions are ...

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