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Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes.
Carvalho NA, Santiago KM, Maia JML, Costa FD, Formiga MN, Soares DCQ, Paixão D, Mello CAL, Costa CMLD, Rocha JCCD, Rivera B, Carraro DM, Torrezan GT. Carvalho NA, et al. Among authors: santiago km. J Med Genet. 2023 Dec 21;61(1):61-68. doi: 10.1136/jmg-2023-109269. J Med Genet. 2023. PMID: 37536918 Free PMC article.
Germline pathogenic variants in patients with early-onset neuroendocrine neoplasms.
Riechelmann RP, Donadio MDS, Jesus VHF, de Carvalho NA, Santiago KM, Barros MJ, Lopes L, Oliveira Dos Santos G, Nirvana Formiga M, Carraro DM, Torrezan GT. Riechelmann RP, et al. Among authors: santiago km. Endocr Relat Cancer. 2023 May 11;30(6):e220258. doi: 10.1530/ERC-22-0258. Print 2023 Jun 1. Endocr Relat Cancer. 2023. PMID: 36947458
Risk of metastasis in BRCA2 carriers diagnosed with triple-negative breast cancer.
Moreno M, Oliveira JS, Brianese RC, de Castro DG, Sanches SM, Torrezan GT, Santiago KM, De Brot M, Cordeiro de Lima VC, Baroni Alves Makdissi F, Casali Da Rocha JC, Calsavara VF, Carraro DM. Moreno M, et al. Among authors: santiago km. Cancer Med. 2023 Aug;12(15):16129-16141. doi: 10.1002/cam4.6267. Epub 2023 Jul 23. Cancer Med. 2023. PMID: 37485802 Free PMC article.
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: santiago km. Sci Adv. 2020 Jun 24;6(26):eaba3231. doi: 10.1126/sciadv.aba3231. eCollection 2020 Jun. Sci Adv. 2020. PMID: 32637605 Free PMC article.
MIR605 rs2043556 is associated with the occurrence of multiple primary tumors in TP53 p.(Arg337His) mutation carriers.
Bandeira IC, Vieira IA, Andreis TF, Brussa Reis L, Macedo GS, Vianna FSL, Santos-Silva P, Palmero EI, Galvão HCR, Ramos CRN, Santiago KM, Achatz MI, da Costa AABA, Ashton-Prolla P. Bandeira IC, et al. Among authors: santiago km. Cancer Genet. 2020 Jan;240:54-58. doi: 10.1016/j.cancergen.2019.11.005. Epub 2019 Nov 20. Cancer Genet. 2020. PMID: 31778928
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. 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.
35 results