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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
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
Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging: A Meta-analysis.
Ballinger ML, Best A, Mai PL, Khincha PP, Loud JT, Peters JA, Achatz MI, Chojniak R, Balieiro da Costa A, Santiago KM, Garber J, O'Neill AF, Eeles RA, Evans DG, Bleiker E, Sonke GS, Ruijs M, Loo C, Schiffman J, Naumer A, Kohlmann W, Strong LC, Bojadzieva J, Malkin D, Rednam SP, Stoffel EM, Koeppe E, Weitzel JN, Slavin TP, Nehoray B, Robson M, Walsh M, Manelli L, Villani A, Thomas DM, Savage SA. Ballinger ML, et al. Among authors: santiago km. JAMA Oncol. 2017 Dec 1;3(12):1634-1639. doi: 10.1001/jamaoncol.2017.1968. JAMA Oncol. 2017. PMID: 28772291 Free PMC article.
Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.
Pinheiro M, Lupinacci FCS, Santiago KM, Drigo SA, Marchi FA, Fonseca-Alves CE, Andrade SCDS, Aagaard MM, Basso TR, Dos Reis MB, Villacis RAR, Roffé M, Hajj GNM, Jurisica I, Kowalski LP, Achatz MI, Rogatto SR. Pinheiro M, et al. Among authors: santiago km. Cancers (Basel). 2020 May 20;12(5):1289. doi: 10.3390/cancers12051289. Cancers (Basel). 2020. PMID: 32443704 Free PMC article.