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328 results

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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: tischkowitz m. Trials. 2024 Feb 3;25(1):103. doi: 10.1186/s13063-024-07929-w. Trials. 2024. PMID: 38308321 Free PMC article.
Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE.
Mavaddat N, Peock S, Frost D, Ellis S, Platte R, Fineberg E, Evans DG, Izatt L, Eeles RA, Adlard J, Davidson R, Eccles D, Cole T, Cook J, Brewer C, Tischkowitz M, Douglas F, Hodgson S, Walker L, Porteous ME, Morrison PJ, Side LE, Kennedy MJ, Houghton C, Donaldson A, Rogers MT, Dorkins H, Miedzybrodzka Z, Gregory H, Eason J, Barwell J, McCann E, Murray A, Antoniou AC, Easton DF; EMBRACE. Mavaddat N, et al. Among authors: tischkowitz m. J Natl Cancer Inst. 2013 Jun 5;105(11):812-22. doi: 10.1093/jnci/djt095. Epub 2013 Apr 29. J Natl Cancer Inst. 2013. PMID: 23628597
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Wright CF, Campbell P, Eberhardt RY, Aitken S, Perrett D, Brent S, Danecek P, Gardner EJ, Chundru VK, Lindsay SJ, Andrews K, Hampstead J, Kaplanis J, Samocha KE, Middleton A, Foreman J, Hobson RJ, Parker MJ, Martin HC, FitzPatrick DR, Hurles ME, Firth HV; DDD Study. Wright CF, et al. N Engl J Med. 2023 Apr 27;388(17):1559-1571. doi: 10.1056/NEJMoa2209046. Epub 2023 Apr 12. N Engl J Med. 2023. PMID: 37043637 Free PMC article.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey.
Allen S, Loong L, Garrett A, Torr B, Durkie M, Drummond J, Callaway A, Robinson R, Burghel GJ, Hanson H, Field J, McDevitt T, McVeigh TP, Bedenham T, Bowles C, Bradshaw K, Brooks C, Butler S, Del Rey Jimenez JC, Hawkes L, Stinton V, MacMahon S, Owens M, Palmer-Smith S, Smith K, Tellez J, Valganon-Petrizan M, Waskiewicz E, Yau M, Eccles DM, Tischkowitz M, Goel S, McRonald F, Antoniou AC, Morris E, Hardy S, Turnbull C. Allen S, et al. Among authors: tischkowitz m. J Med Genet. 2024 Mar 21;61(4):305-312. doi: 10.1136/jmg-2023-109645. J Med Genet. 2024. PMID: 38154813 Free PMC article.
Risk-reducing surgery for individuals with cancer-predisposing germline pathogenic variants and no personal cancer history: a review of current UK guidelines.
McCarthy RL, Copson E, Tapper W, Bolton H, Mirnezami AH, O'Neill JR, Patel NN, Tischkowitz M, Cutress RI. McCarthy RL, et al. Among authors: tischkowitz m. Br J Cancer. 2023 Aug;129(3):383-392. doi: 10.1038/s41416-023-02296-w. Epub 2023 May 31. Br J Cancer. 2023. PMID: 37258796 Free PMC article. Review.
Proactive breast cancer risk assessment in primary care: a review based on the principles of screening.
Usher-Smith JA, Hindmarch S, French DP, Tischkowitz M, Moorthie S, Walter FM, Dennison RA, Stutzin Donoso F, Archer S, Taylor L, Emery J, Morris S, Easton DF, Antoniou AC. Usher-Smith JA, et al. Among authors: tischkowitz m. Br J Cancer. 2023 May;128(9):1636-1646. doi: 10.1038/s41416-023-02145-w. Epub 2023 Feb 3. Br J Cancer. 2023. PMID: 36737659 Free PMC article. Review.
Risks of second primary cancers among 584,965 female and male breast cancer survivors in England: a 25-year retrospective cohort study.
Allen I, Hassan H, Joko-Fru WY, Huntley C, Loong L, Rahman T, Torr B, Bacon A, Knott C, Jose S, Vernon S, Lüchtenborg M, Pethick J, Lavelle K, McRonald F, Eccles D, Morris EJA, Hardy S, Turnbull C, Tischkowitz M, Pharoah P, Antoniou AC. Allen I, et al. Among authors: tischkowitz m. Lancet Reg Health Eur. 2024 Apr 24;40:100903. doi: 10.1016/j.lanepe.2024.100903. eCollection 2024 May. Lancet Reg Health Eur. 2024. PMID: 38745989 Free PMC article.
328 results