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Page 1
Large-scale genome-wide association study of 398,238 women unveils seven novel loci associated with high-grade serous epithelial ovarian cancer risk.
Barnes DR, Tyrer JP, Dennis J, Leslie G, Bolla MK, Lush M, Aeilts AM, Aittomäki K, Andrieu N, Andrulis IL, Anton-Culver H, Arason A, Arun BK, Balmaña J, Bandera EV, Barkardottir RB, Berger LPV, de Gonzalez AB, Berthet P, Białkowska K, Bjørge L, Blanco AM, Blok MJ, Bobolis KA, Bogdanova NV, Brenton JD, Butz H, Buys SS, Caligo MA, Campbell I, Castillo C, Claes KBM; GEMO Study Collaborators; EMBRACE Collaborators; Colonna SV, Cook LS, Daly MB, Dansonka-Mieszkowska A, de la Hoya M, deFazio A, DePersia A, Ding YC, Domchek SM, Dörk T, Einbeigi Z, Engel C, Evans DG, Foretova L, Fortner RT, Fostira F, Foti MC, Friedman E, Frone MN, Ganz PA, Gentry-Maharaj A, Glendon G, Godwin AK, González-Neira A, Greene MH, Gronwald J, Guerrieri-Gonzaga A, Hamann U, Hansen TVO, Harris HR, Hauke J, Heitz F, Hogervorst FBL, Hooning MJ, Hopper JL, Huff CD, Huntsman DG, Imyanitov EN; kConFab Investigators; Izatt L, Jakubowska A, James PA, Janavicius R, John EM, Kar S, Karlan BY, Kennedy CJ, Kiemeney LALM, Konstantopoulou I, Kupryjanczyk J, Laitman Y, Lavie O, Lawrenson K, Lester J, Lesueur F, Lopez-Pleguezuelos C, Mai PL, Manoukian S, May T, McNeish IA, Menon U, Milne RL, Modugno F, Mongiovi JM, Monta… See abstract for full author list ➔ Barnes DR, et al. Among authors: izatt l. medRxiv [Preprint]. 2024 Mar 4:2024.02.29.24303243. doi: 10.1101/2024.02.29.24303243. medRxiv. 2024. PMID: 38496424 Free PMC article. Preprint.
Identification of six new susceptibility loci for invasive epithelial ovarian cancer.
Kuchenbaecker KB, Ramus SJ, Tyrer J, Lee A, Shen HC, Beesley J, Lawrenson K, McGuffog L, Healey S, Lee JM, Spindler TJ, Lin YG, Pejovic T, Bean Y, Li Q, Coetzee S, Hazelett D, Miron A, Southey M, Terry MB, Goldgar DE, Buys SS, Janavicius R, Dorfling CM, van Rensburg EJ, Neuhausen SL, Ding YC, Hansen TV, Jønson L, Gerdes AM, Ejlertsen B, Barrowdale D, Dennis J, Benitez J, Osorio A, Garcia MJ, Komenaka I, Weitzel JN, Ganschow P, Peterlongo P, Bernard L, Viel A, Bonanni B, Peissel B, Manoukian S, Radice P, Papi L, Ottini L, Fostira F, Konstantopoulou I, Garber J, Frost D, Perkins J, Platte R, Ellis S; EMBRACE; Godwin AK, Schmutzler RK, Meindl A, Engel C, Sutter C, Sinilnikova OM; GEMO Study Collaborators; Damiola F, Mazoyer S, Stoppa-Lyonnet D, Claes K, De Leeneer K, Kirk J, Rodriguez GC, Piedmonte M, O'Malley DM, de la Hoya M, Caldes T, Aittomäki K, Nevanlinna H, Collée JM, Rookus MA, Oosterwijk JC; Breast Cancer Family Registry; Tihomirova L, Tung N, Hamann U, Isaccs C, Tischkowitz M, Imyanitov EN, Caligo MA, Campbell IG, Hogervorst FB; HEBON; Olah E, Diez O, Blanco I, Brunet J, Lazaro C, Pujana MA, Jakubowska A, Gronwald J, Lubinski J, Sukiennicki G, Barkardottir RB, Plante M, Sim… See abstract for full author list ➔ Kuchenbaecker KB, et al. Nat Genet. 2015 Feb;47(2):164-71. doi: 10.1038/ng.3185. Epub 2015 Jan 12. Nat Genet. 2015. PMID: 25581431 Free PMC article.
Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2.
Osorio A, Milne RL, Alonso R, Pita G, Peterlongo P, Teulé A, Nathanson KL, Domchek SM, Rebbeck T, Lasa A, Konstantopoulou I, Hogervorst FB, Verhoef S, van Dooren MF, Jager A, Ausems MG, Aalfs CM, van Asperen CJ, Vreeswijk M, Waisfisz Q, Van Roozendaal CE, Ligtenberg MJ; HEBON; EMBRACE; Easton DF, Peock S, Cook M, Oliver CT, Frost D, Curzon B, Evans DG, Lalloo F, Eeles R, Izatt L, Davidson R, Adlard J, Eccles D, Ong KR, Douglas F, Downing S, Brewer C, Walker L, Nevanlinna H, Aittomäki K, Couch FJ, Fredericksen Z, Lindor NM, Godwin A, Isaacs C, Caligo MA, Loman N, Jernström H, Barbany-Bustinza G, Liljegren A, Ehrencrona H, Stenmark-Askmalm M; Sw E-BRCA; Feliubadaló L, Manoukian S, Peissel B, Zaffaroni D, Bonanni B, Fortuzzi S, Johannsson OT, Chenevix-Trench G, Chen XC, Beesley J, Spurdle AB; kConFab; Sinilnikova OM, Healey S, McGuffog L, Antoniou AC, Brunet J, Radice P, Benítez J; CIMBA. Osorio A, et al. Among authors: izatt l. Br J Cancer. 2011 Apr 12;104(8):1356-61. doi: 10.1038/bjc.2011.91. Epub 2011 Mar 22. Br J Cancer. 2011. PMID: 21427728 Free PMC article.
Gene and pathway level analyses of germline DNA-repair gene variants and prostate cancer susceptibility using the iCOGS-genotyping array.
Saunders EJ, Dadaev T, Leongamornlert DA, Al Olama AA, Benlloch S, Giles GG, Wiklund F, Gronberg H, Haiman CA, Schleutker J, Nordestgaard BG, Travis RC, Neal D, Pasayan N, Khaw KT, Stanford JL, Blot WJ, Thibodeau SN, Maier C, Kibel AS, Cybulski C, Cannon-Albright L, Brenner H, Park JY, Kaneva R, Batra J, Teixeira MR, Pandha H, Govindasami K, Muir K; UK Genetic Prostate Cancer Study Collaborators; UK ProtecT Study Collaborators; PRACTICAL Consortium; Easton DF, Eeles RA, Kote-Jarai Z. Saunders EJ, et al. Br J Cancer. 2016 Apr 12;114(8):945-52. doi: 10.1038/bjc.2016.50. Br J Cancer. 2016. PMID: 26964030 Free PMC article.
Classification of Variants of Reduced Penetrance in High Penetrance Cancer Susceptibility Genes: Framework for Genetics Clinicians and Clinical Scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK).
Garrett A, Allen S, Durkie M, Burghel GJ, Robinson R, Callaway A, Field J, Frugtniet B, Palmer-Smith S, Grant J, Pagan J, McDevitt T, Rowlands CF, McVeigh T, Hanson H, Turnbull C; CanVIG-UK. Garrett A, et al. Genet Med. 2024 Oct 24:101305. doi: 10.1016/j.gim.2024.101305. Online ahead of print. Genet Med. 2024. PMID: 39489894 Free article.
The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification.
Rowlands CF, Garrett A, Allen S, Durkie M, Burghel GJ, Robinson R, Callaway A, Field J, Frugtniet B, Palmer-Smith S, Grant J, Pagan J, McDevitt T, McVeigh TP, Hanson H, Whiffin N, Jones M, Turnbull C; CanVIG-UK. Rowlands CF, et al. J Med Genet. 2024 Sep 24;61(10):983-991. doi: 10.1136/jmg-2024-110034. J Med Genet. 2024. PMID: 39227160 Free PMC article.
The psychosocial impact of prostate cancer screening for BRCA1 and BRCA2 carriers.
Bancroft EK, Page EC, Brook MN, Pope J, Thomas S, Myhill K, Helfand BT, Talaty P, Ong KR, Douglas E, Cook J, Rosario DJ, Salinas M, Buys SS, Anson J, Davidson R, Longmuir M, Side L, Eccles DM, Tischkowitz M, Taylor A, Cruellas M, Ballestero EP, Cleaver R, Varughese M, Barwell J, LeButt M, Greenhalgh L, Hart R, Azzabi A, Jobson I, Cogley L, Evans DG, Rothwell J, Taylor N, Hogben M, Saya S; IMPACT Study Steering Committee; IMPACT Collaborators; Eeles RA, Aaronson NK. Bancroft EK, et al. BJU Int. 2024 Sep;134(3):484-500. doi: 10.1111/bju.16432. Epub 2024 Jun 5. BJU Int. 2024. PMID: 38839570
Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers.
Yang X, Mooij TM, Leslie G, Ficorella L, Andrieu N, Kast K, Singer CF, Jakubowska A, van Gils CH, Tan YY, Engel C, Adank MA, van Asperen CJ, Ausems MGEM, Berthet P; EMBRACE collaborators; Collee MJ, Cook JA, Eason J, Spaendonck-Zwarts KYV, Evans DG, Gómez García EB, Hanson H, Izatt L, Kemp Z, Lalloo F, Lasset C, Lesueur F, Musgrave H, Nambot S, Noguès C, Oosterwijk JC, Stoppa-Lyonnet D, Tischkowitz M, Tripathi V, Wevers MR, Zhao E, van Leeuwen FE, Schmidt MK, Easton DF, Rookus MA, Antoniou AC. Yang X, et al. Among authors: izatt l. J Med Genet. 2024 Jul 19;61(8):803-809. doi: 10.1136/jmg-2024-109943. J Med Genet. 2024. PMID: 38834293 Free PMC article.
Cancer Precision-Prevention trial of Metformin in adults with Li Fraumeni syndrome (MILI) undergoing yearly MRI surveillance: a randomised controlled trial protocol.
Dixon-Zegeye M, Shaw R, Collins L, Perez-Smith K, Ooms A, Qiao M, Pantziarka P, Izatt L, Tischkowitz M, Harrison RE, George A, Woodward ER, Lord S, Hawkes L, Evans DG, Franklin J, Hanson H, Blagden SP. Dixon-Zegeye M, et al. Among authors: izatt l. Trials. 2024 Feb 3;25(1):103. doi: 10.1186/s13063-024-07929-w. Trials. 2024. PMID: 38308321 Free PMC article.
A comprehensive characterisation of phaeochromocytoma and paraganglioma tumours through histone protein profiling, DNA methylation and transcriptomic analysis genome wide.
Chatzikyriakou P, Brempou D, Quinn M, Fishbein L, Noberini R, Anastopoulos IN, Tufton N, Lim ES, Obholzer R, Hubbard JG, Moonim M, Bonaldi T, Nathanson KL, Izatt L, Oakey RJ. Chatzikyriakou P, et al. Among authors: izatt l. Clin Epigenetics. 2023 Dec 20;15(1):196. doi: 10.1186/s13148-023-01598-3. Clin Epigenetics. 2023. PMID: 38124114 Free PMC article.
206 results