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Page 1
Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.
Rosset C, Vairo F, Bandeira IC, Correia RL, de Goes FV, da Silva RTB, Bueno LSM, de Miranda Gomes MCS, Galvão HCR, Neri JICF, Achatz MI, Netto CBO, Ashton-Prolla P. Rosset C, et al. Among authors: achatz mi. PLoS One. 2017 Oct 2;12(10):e0185713. doi: 10.1371/journal.pone.0185713. eCollection 2017. PLoS One. 2017. PMID: 28968464 Free PMC article.
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.
Stolarova L, Kleiblova P, Zemankova P, Stastna B, Janatova M, Soukupova J, Achatz MI, Ambrosone C, Apostolou P, Arun BK, Auer P, Barnard M, Bertelsen B; Biobank Japan; Blok MJ, Boddicker N, Brunet J, Burnside ES, Calvello M, Campbell I, Chan SH, Chen F, Chiang JB, Coppa A, Cortesi L, Crujeiras-González A; Consortium CZECANCA; De Leeneer K, De Putter R, DePersia A, Devereux L, Domchek S, Efremidis A, Engel C, Ernst C, Evans DGR, Feliubadaló L, Fostira F, Fuentes-Ríos O, Gómez-García EB, González S, Haiman C, Hansen TVO, Hauke J, Hodge J, Hu C, Huang H, Ishak NDB, Iwasaki Y, Konstantopoulou I, Kraft P, Lacey J, Lázaro C, Li N, Lim WK, Lindstrom S, Lori A, Martinez E, Martins A, Matsuda K, Matullo G, McInerny S, Michailidou K, Montagna M, Monteiro ANA, Mori L, Nathanson K, Neuhausen SL, Nevanlinna H, Olson JE, Palmer J, Pasini B, Patel A, Piane M, Poppe B, Radice P, Renieri A, Resta N, Richardson ME, Rosseel T, Ruddy KJ, Santamariña M, Dos Santos ES, Teras L, Toland AE, Trentham-Dietz A, Vachon CM, Volk AE, Weber-Lassalle N, Weitzel JN, Wiesmuller L, Winham S, Yadav S, Yannoukakos D, Yao S, Zampiga V, Zethoven M, Zhang ZW, Zima T, Spurdle AB, Vega A, Rossing M, Del Valle J, De… See abstract for full author list ➔ Stolarova L, et al. Among authors: achatz mi. Clin Cancer Res. 2023 Aug 15;29(16):3037-3050. doi: 10.1158/1078-0432.CCR-23-0212. Clin Cancer Res. 2023. PMID: 37449874 Free PMC article.
The breast cancer immunophenotype of TP53-p.R337H carriers is different from that observed among other pathogenic TP53 mutation carriers.
Fitarelli-Kiehl M, Giacomazzi J, Santos-Silva P, Graudenz MS, Palmero EI, Michelli RA, Achatz MI, de Toledo Osório CA, de Faria Ferraz VE, Picanço CG, Ashton-Prolla P. Fitarelli-Kiehl M, et al. Among authors: achatz mi. Fam Cancer. 2015 Jun;14(2):333-6. doi: 10.1007/s10689-015-9779-y. Fam Cancer. 2015. PMID: 25564201
Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.
Puig S, Potrony M, Cuellar F, Puig-Butille JA, Carrera C, Aguilera P, Nagore E, Garcia-Casado Z, Requena C, Kumar R, Landman G, Costa Soares de Sá B, Gargantini Rezze G, Facure L, de Avila AL, Achatz MI, Carraro DM, Duprat Neto JP, Grazziotin TC, Bonamigo RR, Rey MC, Balestrini C, Morales E, Molgo M, Bakos RM, Ashton-Prolla P, Giugliani R, Larre Borges A, Barquet V, Pérez J, Martínez M, Cabo H, Cohen Sabban E, Latorre C, Carlos-Ortega B, Salas-Alanis JC, Gonzalez R, Olazaran Z, Malvehy J, Badenas C. Puig S, et al. Among authors: achatz mi. Genet Med. 2016 Jul;18(7):727-36. doi: 10.1038/gim.2015.160. Epub 2015 Dec 17. Genet Med. 2016. PMID: 26681309 Free PMC article.
Rare germline variant (rs78378222) in the TP53 3' UTR: Evidence for a new mechanism of cancer predisposition in Li-Fraumeni syndrome.
Macedo GS, Araujo Vieira I, Brandalize AP, Giacomazzi J, Inez Palmero E, Volc S, Rodrigues Paixão-Côrtes V, Caleffi M, Silva Alves M, Achatz MI, Hainaut P, Ashton-Prolla P. Macedo GS, et al. Among authors: achatz mi. Cancer Genet. 2016 Mar;209(3):97-106. doi: 10.1016/j.cancergen.2015.12.012. Epub 2016 Jan 7. Cancer Genet. 2016. PMID: 26823150
Commentary regarding Schayek et al., entitled "The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil".
Sales Luiz Vianna F, Alemar B, Achatz MI, Camey SA, Ashton-Prolla P. Sales Luiz Vianna F, et al. Among authors: achatz mi. Cancer Genet. 2016 Jun;209(6):282-3. doi: 10.1016/j.cancergen.2016.04.002. Epub 2016 Apr 27. Cancer Genet. 2016. PMID: 27262228 No abstract available.
113 results