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Page 1
Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer.
Webster ALH, Sanders MA, Patel K, Dietrich R, Noonan RJ, Lach FP, White RR, Goldfarb A, Hadi K, Edwards MM, Donovan FX, Hoogenboezem RM, Jung M, Sridhar S, Wiley TF, Fedrigo O, Tian H, Rosiene J, Heineman T, Kennedy JA, Bean L, Rosti RO, Tryon R, Gonzalez AM, Rosenberg A, Luo JD, Carroll TS, Shroff S, Beaumont M, Velleuer E, Rastatter JC, Wells SI, Surrallés J, Bagby G, MacMillan ML, Wagner JE, Cancio M, Boulad F, Scognamiglio T, Vaughan R, Beaumont KG, Koren A, Imielinski M, Chandrasekharappa SC, Auerbach AD, Singh B, Kutler DI, Campbell PJ, Smogorzewska A. Webster ALH, et al. Among authors: kennedy ja. Nature. 2022 Dec;612(7940):495-502. doi: 10.1038/s41586-022-05253-4. Epub 2022 Nov 30. Nature. 2022. PMID: 36450981 Free PMC article.
Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia.
Rickman KA, Lach FP, Abhyankar A, Donovan FX, Sanborn EM, Kennedy JA, Sougnez C, Gabriel SB, Elemento O, Chandrasekharappa SC, Schindler D, Auerbach AD, Smogorzewska A. Rickman KA, et al. Among authors: kennedy ja. Cell Rep. 2015 Jul 7;12(1):35-41. doi: 10.1016/j.celrep.2015.06.014. Epub 2015 Jun 25. Cell Rep. 2015. PMID: 26119737 Free PMC article.
Prospective pan-cancer germline testing using MSK-IMPACT informs clinical translation in 751 patients with pediatric solid tumors.
Fiala EM, Jayakumaran G, Mauguen A, Kennedy JA, Bouvier N, Kemel Y, Fleischut MH, Maio A, Salo-Mullen EE, Sheehan M, Arnold AG, Latham A, Carlo MI, Cadoo K, Murkherjee S, Slotkin EK, Trippett T, Glade Bender J, Meyers PA, Wexler L, Dela Cruz FS, Cheung NK, Basu E, Kentsis A, Ortiz M, Francis JH, Dunkel IJ, Khakoo Y, Gilheeney S, Farouk Sait S, Forlenza CJ, Sulis M, Karajannis M, Modak S, Gerstle JT, Heaton TE, Roberts S, Yang C, Jairam S, Vijai J, Topka S, Friedman DN, Stadler ZK, Robson M, Berger MF, Schultz N, Ladanyi M, O'Reilly RJ, Abramson DH, Ceyhan-Birsoy O, Zhang L, Mandelker D, Shukla NN, Kung AL, Offit K, Zehir A, Walsh MF. Fiala EM, et al. Among authors: kennedy ja. Nat Cancer. 2021 Mar;2:357-365. doi: 10.1038/s43018-021-00172-1. Epub 2021 Feb 15. Nat Cancer. 2021. PMID: 34308366 Free PMC article.
Prevalence and Characterization of Biallelic and Monoallelic NTHL1 and MSH3 Variant Carriers From a Pan-Cancer Patient Population.
Salo-Mullen EE, Maio A, Mukherjee S, Bandlamudi C, Shia J, Kemel Y, Cadoo KA, Liu Y, Carlo M, Ranganathan M, Kane S, Srinivasan P, Chavan SS, Donoghue MTA, Bourque C, Sheehan M, Tejada PR, Patel Z, Arnold AG, Kennedy JA, Amoroso K, Breen K, Catchings A, Sacca R, Marcell V, Markowitz AJ, Latham A, Walsh M, Misyura M, Ceyhan-Birsoy O, Solit DB, Berger MF, Robson ME, Taylor BS, Offit K, Mandelker D, Stadler ZK. Salo-Mullen EE, et al. Among authors: kennedy ja. JCO Precis Oncol. 2021 Feb 26;5:PO.20.00443. doi: 10.1200/PO.20.00443. eCollection 2021. JCO Precis Oncol. 2021. PMID: 34250384 Free PMC article.
Pathogenic Loss-of-Function Germline TERT Mutations in Patients With Solid Tumors.
Walsh MF, Sacca R, Wildman T, Amoroso K, Kennedy J, Zhang L, Birsoy O, Mandelker D, Steinsnyder Z, Latham A, Carlo MI, Cadoo K, Kemel Y, Robson M, Stadler ZK, Offit K. Walsh MF, et al. JCO Precis Oncol. 2019 Oct 23;3:PO.19.00230. doi: 10.1200/PO.19.00230. eCollection 2019. JCO Precis Oncol. 2019. PMID: 32923861 Free PMC article. No abstract available.
11p15.5 epimutations in children with Wilms tumor and hepatoblastoma detected in peripheral blood.
Fiala EM, Ortiz MV, Kennedy JA, Glodzik D, Fleischut MH, Duffy KA, Hathaway ER, Heaton T, Gerstle JT, Steinherz P, Shukla N, McNeer N, Tkachuk K, Bouvier N, Cadoo K, Carlo MI, Latham A, Dubard Gault M, Joseph V, Kemel Y, Kentsis A, Stadler Z, La Quaglia M, Papaemmanuil E, Friedman D, Ganguly A, Kung A, Offit K, Kalish JM, Walsh MF. Fiala EM, et al. Among authors: kennedy ja. Cancer. 2020 Jul 1;126(13):3114-3121. doi: 10.1002/cncr.32907. Epub 2020 Apr 22. Cancer. 2020. PMID: 32320050 Free PMC article.
Germline SDHA mutations in children and adults with cancer.
Dubard Gault M, Mandelker D, DeLair D, Stewart CR, Kemel Y, Sheehan MR, Siegel B, Kennedy J, Marcell V, Arnold A, Al-Ahmadie H, Modak S, Robson M, Shukla N, Roberts S, Vijai J, Topka S, Kentsis A, Cadoo K, Carlo M, Latham Schwark A, Reznik E, Dinatale R, Hechtman J, Borras Flores E, Jairam S, Yang C, Li Y, Bayraktar EC, Ceyhan-Birsoy O, Zhang L, Kohlman W, Schiffman J, Stadler Z, Birsoy K, Kung A, Offit K, Walsh MF. Dubard Gault M, et al. Cold Spring Harb Mol Case Stud. 2018 Aug 1;4(4):a002584. doi: 10.1101/mcs.a002584. Print 2018 Aug. Cold Spring Harb Mol Case Stud. 2018. PMID: 30068732 Free PMC article.
304 results