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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.
Age at cancer onset in germline TP53 mutation carriers: association with polymorphisms in predicted G-quadruplex structures.
Sagne C, Marcel V, Bota M, Martel-Planche G, Nobrega A, Palmero EI, Perriaud L, Boniol M, Vagner S, Cox DG, Chan CS, Mergny JL, Olivier M, Ashton-Prolla P, Hall J, Hainaut P, Achatz MI. Sagne C, et al. Among authors: achatz mi. Carcinogenesis. 2014 Apr;35(4):807-15. doi: 10.1093/carcin/bgt381. Epub 2013 Dec 11. Carcinogenesis. 2014. PMID: 24336192 Free PMC article.
The Inherited p53 Mutation in the Brazilian Population.
Achatz MI, Zambetti GP. Achatz MI, et al. Cold Spring Harb Perspect Med. 2016 Dec 1;6(12):a026195. doi: 10.1101/cshperspect.a026195. Cold Spring Harb Perspect Med. 2016. PMID: 27663983 Free PMC article. Review.
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.
Genomic profiling in ovarian cancer retreated with platinum based chemotherapy presented homologous recombination deficiency and copy number imbalances of CCNE1 and RB1 genes.
da Costa AABA, do Canto LM, Larsen SJ, Ribeiro ARG, Stecca CE, Petersen AH, Aagaard MM, de Brot L, Baumbach J, Baiocchi G, Achatz MI, Rogatto SR. da Costa AABA, et al. Among authors: achatz mi. BMC Cancer. 2019 May 6;19(1):422. doi: 10.1186/s12885-019-5622-4. BMC Cancer. 2019. PMID: 31060523 Free PMC article.
112 results