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Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.
Subasri V, Light N, Kanwar N, Brzezinski J, Luo P, Hansford JR, Cairney E, Portwine C, Elser C, Finlay JL, Nichols KE, Alon N, Brunga L, Anson J, Kohlmann W, de Andrade KC, Khincha PP, Savage SA, Schiffman JD, Weksberg R, Pugh TJ, Villani A, Shlien A, Goldenberg A, Malkin D. Subasri V, et al. Among authors: de andrade kc. Cancer Res Commun. 2023 May 1;3(5):738-754. doi: 10.1158/2767-9764.CRC-22-0402. eCollection 2023 May. Cancer Res Commun. 2023. PMID: 37377903 Free PMC article.
Response to: Concern regarding classification of germlineTP53 variants as likely pathogenic.
de Andrade KC, Frone MN, Wegman-Ostrosky T, Khincha PP, Kim J, Amadou A, Santiago KM, Fortes FP, Lemonnier N, Mirabello L, Stewart DR, Hainaut P, Kowalski LP, Savage SA, Achatz MI. de Andrade KC, et al. Hum Mutat. 2019 Jun;40(6):832-833. doi: 10.1002/humu.23749. Epub 2019 Apr 18. Hum Mutat. 2019. PMID: 30997946 No abstract available.
XAF1 as a modifier of p53 function and cancer susceptibility.
Pinto EM, Figueiredo BC, Chen W, Galvao HCR, Formiga MN, Fragoso MCBV, Ashton-Prolla P, Ribeiro EMSF, Felix G, Costa TEB, Savage SA, Yeager M, Palmero EI, Volc S, Salvador H, Fuster-Soler JL, Lavarino C, Chantada G, Vaur D, Odone-Filho V, Brugières L, Else T, Stoffel EM, Maxwell KN, Achatz MI, Kowalski L, de Andrade KC, Pappo A, Letouze E, Latronico AC, Mendonca BB, Almeida MQ, Brondani VB, Bittar CM, Soares EWS, Mathias C, Ramos CRN, Machado M, Zhou W, Jones K, Vogt A, Klincha PP, Santiago KM, Komechen H, Paraizo MM, Parise IZS, Hamilton KV, Wang J, Rampersaud E, Clay MR, Murphy AJ, Lalli E, Nichols KE, Ribeiro RC, Rodriguez-Galindo C, Korbonits M, Zhang J, Thomas MG, Connelly JP, Pruett-Miller S, Diekmann Y, Neale G, Wu G, Zambetti GP. Pinto EM, et al. Among authors: de andrade kc. Sci Adv. 2020 Jun 24;6(26):eaba3231. doi: 10.1126/sciadv.aba3231. eCollection 2020 Jun. Sci Adv. 2020. PMID: 32637605 Free PMC article.
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.
Fortuno C, Lee K, Olivier M, Pesaran T, Mai PL, de Andrade KC, Attardi LD, Crowley S, Evans DG, Feng BJ, Foreman AKM, Frone MN, Huether R, James PA, McGoldrick K, Mester J, Seifert BA, Slavin TP, Witkowski L, Zhang L, Plon SE, Spurdle AB, Savage SA; ClinGen TP53 Variant Curation Expert Panel. Fortuno C, et al. Among authors: de andrade kc. Hum Mutat. 2021 Mar;42(3):223-236. doi: 10.1002/humu.24152. Epub 2020 Dec 25. Hum Mutat. 2021. PMID: 33300245 Free PMC article.
Pathogenic germline IKZF1 variant alters hematopoietic gene expression profiles.
Brodie SA, Khincha PP, Giri N, Bouk AJ, Steinberg M, Dai J, Jessop L, Donovan FX, Chandrasekharappa SC, de Andrade KC, Maric I, Ellis SR, Mirabello L, Alter BP, Savage SA. Brodie SA, et al. Among authors: de andrade kc. Cold Spring Harb Mol Case Stud. 2021 Aug 2;7(4):a006015. doi: 10.1101/mcs.a006015. Print 2021 Aug. Cold Spring Harb Mol Case Stud. 2021. PMID: 34162668 Free PMC article.
Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study.
Kim J, Gianferante M, Karyadi DM, Hartley SW, Frone MN, Luo W, Robison LL, Armstrong GT, Bhatia S, Dean M, Yeager M, Zhu B, Song L, Sampson JN, Yasui Y, Leisenring WM, Brodie SA, de Andrade KC, Fortes FP, Goldstein AM, Khincha PP, Machiela MJ, McMaster ML, Nickerson ML, Oba L, Pemov A, Pinheiro M, Rotunno M, Santiago K, Wegman-Ostrosky T, Diver WR, Teras L, Freedman ND, Hicks BD, Zhu B, Wang M, Jones K, Hutchinson AA, Dagnall C, Savage SA, Tucker MA, Chanock SJ, Morton LM, Stewart DR, Mirabello L. Kim J, et al. Among authors: de andrade kc. JNCI Cancer Spectr. 2021 Jan 23;5(2):pkab007. doi: 10.1093/jncics/pkab007. eCollection 2021 Apr. JNCI Cancer Spectr. 2021. PMID: 34308104 Free PMC article.
31 results