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Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group.
Bakhuizen JJ, Hanson H, van der Tuin K, Lalloo F, Tischkowitz M, Wadt K, Jongmans MCJ; SIOPE Host Genome Working Group; CanGene-CanVar Clinical Guideline Working Group; Expert Network Members. Bakhuizen JJ, et al. Fam Cancer. 2021 Oct;20(4):337-348. doi: 10.1007/s10689-021-00264-y. Epub 2021 Jun 25. Fam Cancer. 2021. PMID: 34170462 Free PMC article.
UK recommendations for SDHA germline genetic testing and surveillance in clinical practice.
Hanson H, Durkie M, Lalloo F, Izatt L, McVeigh TP, Cook JA, Brewer C, Drummond J, Butler S, Cranston T, Casey R, Tan T, Morganstein D, Eccles DM, Tischkowitz M, Turnbull C, Woodward ER, Maher ER; UK Cancer Genetics Centres. Hanson H, et al. J Med Genet. 2023 Feb;60(2):107-111. doi: 10.1136/jmedgenet-2021-108355. Epub 2022 Mar 8. J Med Genet. 2023. PMID: 35260474 Free PMC article.
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.
Loong L, Cubuk C, Choi S, Allen S, Torr B, Garrett A, Loveday C, Durkie M, Callaway A, Burghel GJ, Drummond J, Robinson R, Berry IR, Wallace A, Eccles DM, Tischkowitz M, Ellard S, Ware JS, Hanson H, Turnbull C; CanVIG-UK. Loong L, et al. Genet Med. 2022 Mar;24(3):552-563. doi: 10.1016/j.gim.2021.11.011. Epub 2021 Nov 18. Genet Med. 2022. PMID: 34906453 Free PMC article.
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.
Ruark E, Snape K, Humburg P, Loveday C, Bajrami I, Brough R, Rodrigues DN, Renwick A, Seal S, Ramsay E, Duarte Sdel V, Rivas MA, Warren-Perry M, Zachariou A, Campion-Flora A, Hanks S, Murray A, Ansari Pour N, Douglas J, Gregory L, Rimmer A, Walker NM, Yang TP, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Eccles D, Evans DG, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Shanley S, Walker L, Gore M, Houlston R, Brown MA, Caufield MJ, Deloukas P, McCarthy MI, Todd JA; Breast and Ovarian Cancer Susceptibility Collaboration; Wellcome Trust Case Control Consortium; Turnbull C, Reis-Filho JS, Ashworth A, Antoniou AC, Lord CJ, Donnelly P, Rahman N. Ruark E, et al. Nature. 2013 Jan 17;493(7432):406-10. doi: 10.1038/nature11725. Epub 2012 Dec 16. Nature. 2013. PMID: 23242139 Free PMC article.
Germline-focussed analysis of tumour-only sequencing: recommendations from the ESMO Precision Medicine Working Group.
Mandelker D, Donoghue M, Talukdar S, Bandlamudi C, Srinivasan P, Vivek M, Jezdic S, Hanson H, Snape K, Kulkarni A, Hawkes L, Douillard JY, Wallace SE, Rial-Sebbag E, Meric-Bersntam F, George A, Chubb D, Loveday C, Ladanyi M, Berger MF, Taylor BS, Turnbull C. Mandelker D, et al. Among authors: kulkarni a. Ann Oncol. 2019 Aug 1;30(8):1221-1231. doi: 10.1093/annonc/mdz136. Ann Oncol. 2019. PMID: 31050713 Free PMC article.
Erratum to 'Germline-focussed analysis of tumour-only sequencing: recommendations from the ESMO Precision Medicine Working Group': [Annals of Oncology 30 (2019) 1221-1231].
Mandelker D, Donoghue M, Talukdar S, Bandlamudi C, Srinivasan P, Vivek M, Jezdic S, Hanson H, Snape K, Kulkarni A, Hawkes L, Douillard JY, Wallace SE, Rial-Sebbag E, Meric-Bersntam F, George A, Chubb D, Loveday C, Ladanyi M, Berger MF, Taylor BS, Turnbull C. Mandelker D, et al. Among authors: kulkarni a. Ann Oncol. 2021 Aug;32(8):1069-1071. doi: 10.1016/j.annonc.2021.05.798. Epub 2021 Jun 2. Ann Oncol. 2021. PMID: 34090768 Free PMC article. No abstract available.
Brief Report: Impact of Anti-Cancer Treatments on Outcomes of COVID-19 in Patients With Thoracic Cancers: A CCC19 Registry Analysis.
Kulkarni AA, Hennessy C, Wilson G, Ramesh V, Hwang C, Awosika J, Bakouny Z, Khan H, Vilar-Compte D, McKay R, Jani C, Weissmann L, Griffiths E, Batist G, Bouganim N, Mavromatis B, Bashir B, Nguyen RH, Riess JW, Puc M, Kasi A, Berg S, Castillo DR, Hayes-Lattin B, Hosmer W, Flora D, Mishra S, French B, Warner JL, Lopes G, Peters S, Florez N. Kulkarni AA, et al. Clin Lung Cancer. 2024 Apr 10:S1525-7304(24)00044-5. doi: 10.1016/j.cllc.2024.04.003. Online ahead of print. Clin Lung Cancer. 2024. PMID: 38744613 No abstract available.
3,045 results