Germline DNMT3A mutation in familial acute myeloid leukaemia

References

• Furutani E, Shimamura A. Germline genetic predisposition to hematologic malignancy. J Clin Oncol. 2017;35:1018–1028.
   Google Scholar
• Godley LA, Shimamura A. Genetic predisposition to hematologic malignancies: management and surveillance. Blood. 2017;130:424–432.
   Google Scholar
• Churpek JE, Pyrtel K, Kanchi KL, et al. Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia. Blood. 2015;126:2484–2490.
   Google Scholar
• Robertson KD, Uzvolgyi E, Liang G, et al. The human DNA methyltransferases (DNMTs) 1, 3a and 3b: coordinate mRNA expression in normal tissues and overexpression in tumors. Nucleic Acids Res. 1999;27:2291–2298.
   Google Scholar
• Im AP, Sehgal AR, Carroll MP, et al. DNMT3A and IDH mutations in acute myeloid leukemia and other myeloid malignancies: associations with prognosis and potential treatment strategies. Leukemia. 2014;28(9):1774–1783.
   Google Scholar
• Welch JS, Ley TJ, Link DC, et al. The origin and evolution of mutations in acute myeloid leukemia. Cell. 2012;150(2):264–278. .
   Google Scholar
• Papaemmanuil E, Dohner H, Campbell PJ. Genomic classification in acute myeloid leukemia. N Engl J Med. 2016;375:900–901.
   Google Scholar
• Jaiswal S, Fontanillas P, Flannick J, et al. Age-related clonal hematopoiesis associated with adverse outcomes. N Engl J Med. 2014;371:2488–2498.
   Google Scholar
• Genovese G, Kahler AK, Handsaker RE, et al. Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence. N Engl J Med. 2014;371:2477–2487.
   Google Scholar
• Challen GA, Sun D, Jeong M, et al. Dnmt3a is essential for hematopoietic stem cell differentiation. Nat Genet. 2011;44:23–31.
   Google Scholar
• Yang L, Rau R, Goodell MA. DNMT3A in haematological malignancies. Nat Rev Cancer. 2015;15:152–165.
   Google Scholar
• Qu Y, Lennartsson A, Gaidzik VI, et al. Differential methylation in CN-AML preferentially targets non-CGI regions and is dictated by DNMT3A mutational status and associated with predominant hypomethylation of HOX genes. Epigenetics. 2014;9:1108–1119.
   Google Scholar
• Russler-Germain DA, Spencer DH, Young MA, et al. The R882H DNMT3A mutation associated with AML dominantly inhibits wild-type DNMT3A by blocking its ability to form active tetramers. Cancer Cell. 2014;25:442–454.
   Google Scholar
• Information NCfB. dbSNP: database of single nucleotide polymorphisms.
   Google Scholar
• Auton A, Brooks LD, Durbin RM, et al.; Genomes Project C. A global reference for human genetic variation. Nature. 2015;526:68–74.
   Google Scholar
• National Heart L, and Blood Institute. EXP: grand opportunity exome sequencing project.
   Google Scholar
• Kim SJ, Zhao H, Hardikar S, et al. A DNMT3A mutation common in AML exhibits dominant-negative effects in murine ES cells. Blood. 2013;122:4086–4089.
   Google Scholar
• Gaidzik VI, Schlenk RF, Paschka P, et al. Clinical impact of DNMT3A mutations in younger adult patients with acute myeloid leukemia: results of the AML study group (AMLSG). Blood. 2013;121:4769–4777.
   Google Scholar
• Ley TJ, Ding L, Walter MJ, et al. DNMT3A mutations in acute myeloid leukemia. N Engl J Med. 2010;363:2424–2433.
   Google Scholar
• Holz-Schietinger C, Matje DM, Reich NO. Mutations in DNA methyltransferase (DNMT3A) observed in acute myeloid leukemia patients disrupt processive methylation. J Biol Chem. 2012;287:30941–30951.
   Google Scholar
• Figueroa ME, Abdel-Wahab O, Lu C, et al. Leukemic IDH1 and IDH2 mutations result in a hypermethylation phenotype, disrupt TET2 function, and impair hematopoietic differentiation. Cancer Cell. 2010;18:553–567.
   Google Scholar
• Patel JP, Gonen M, Figueroa ME, et al. Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. N Engl J Med. 2012;366:1079–1089.
   Google Scholar
• Papaemmanuil E, Gerstung M, Bullinger L, et al. Genomic classification and prognosis in acute myeloid leukemia. N Engl J Med. 2016;374:2209–2221.
   Google Scholar
• Chen C, Liu Y, Lu C, et al. Cancer-associated IDH2 mutants drive an acute myeloid leukemia that is susceptible to Brd4 inhibition. Genes Dev. 2013;27:1974–1985.
   Google Scholar
• DiNardo CD, Ravandi F, Agresta S, et al. Characteristics, clinical outcome, and prognostic significance of IDH mutations in AML. Am J Hematol. 2015;90:732–736.
   Google Scholar
• Ley TJ, Miller C, Ding L, et al.; Cancer Genome Atlas Research N. Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. N Engl J Med. 2013;368:2059–2074.
   Google Scholar
• Ward PS, Patel J, Wise DR, et al. The common feature of leukemia-associated IDH1 and IDH2 mutations is a neomorphic enzyme activity converting alpha-ketoglutarate to 2-hydroxyglutarate. Cancer Cell. 2010;17:225–234.
   Google Scholar
• Lu C, Ward PS, Kapoor GS, et al. IDH mutation impairs histone demethylation and results in a block to cell differentiation. Nature. 2012;483:474–478.
   Google Scholar
• Online mendelian inheritance in man OJHU. Baltimore, MD. (MIM Number: 615879).
   Google Scholar
• Kosaki R, Terashima H, Kubota M, et al. Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation. Am J Med Genet A. 2017;173:250–253.
   Google Scholar
• Tatton-Brown K, Seal S, Ruark E, et al. Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. Nat Genet. 2014;46:385–388.
   Google Scholar
• Xin B, Cruz Marino T, Szekely J, et al. Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome. Clin Genet. 2016; 91:623–628.
   Google Scholar
• Shen W, Heeley JM, Carlston CM, et al. The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies. Am J Med Genet A. 2017;173:3022–3028.
   Google Scholar
• Hollink I, van den Ouweland AMW, Beverloo HB, et al. Acute myeloid leukaemia in a case with Tatton-Brown-Rahman syndrome: the peculiar DNMT3A R882 mutation. J Med Genet. 2017;54:805–808.
   Google Scholar
• Tatton-Brown K, Zachariou A, Loveday C, et al. The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants. Wellcome Open Res. 2018;3:46.
   Google Scholar
• Li H. Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM. arXiv:1303.3997v1. 2013.
   Google Scholar
• Rimmer A, Phan H, Mathieson I, et al. Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications. Nat Genet. 2014;46:912–918.
   Google Scholar
• Olshen AB, Venkatraman ES, Lucito R, et al. Circular binary segmentation for the analysis of array-based DNA copy number data. Biostatistics. 2004;5:557–572.
   Google Scholar
• Ha G, Roth A, Lai D, et al. Integrative analysis of genome-wide loss of heterozygosity and monoallelic expression at nucleotide resolution reveals disrupted pathways in triple-negative breast cancer. Genome Res. 2012;22:1995–2007.
   Google Scholar
• Takahashi K, Patel K, Bueso-Ramos C, et al. Clinical implications of TP53 mutations in myelodysplastic syndromes treated with hypomethylating agents. Oncotarget. 2016;7:14172–14187.
   Google Scholar
• Estecio MR, Gharibyan V, Shen L, et al. LINE-1 hypomethylation in cancer is highly variable and inversely correlated with microsatellite instability. PLoS One. 2007;2:e399.
   Google Scholar
• Gertz J, Varley KE, Reddy TE, et al. Analysis of DNA methylation in a three-generation family reveals widespread genetic influence on epigenetic regulation. PLoS Genet. 2011;7:e1002228.
   Google Scholar
• Gu H, Smith ZD, Bock C, et al. Preparation of reduced representation bisulfite sequencing libraries for genome-scale DNA methylation profiling. Nat Protoc. 2011;6:468–481.
   Google Scholar
• Krueger F, Andrews SR. Bismark: a flexible aligner and methylation caller for bisulfite-seq applications. Bioinformatics. 2011;27:1571–1572.
   Google Scholar
• Cerami E, Gao J, Dogrusoz U, et al. The cBio cancer genomics portal: an open platform for exploring multidimensional cancer genomics data. Cancer Discov. 2012;2:401–404.
   Google Scholar
• Gao J, Aksoy BA, Dogrusoz U, et al. Integrative analysis of complex cancer genomics and clinical profiles using the cBioPortal. Sci Signal. 2013;6:pl1.
   Google Scholar
• Wang Y, Geer LY, Chappey C, et al. Cn3D: sequence and structure views for Entrez. Trends Biochem Sci. 2000;25:300–302.
   Google Scholar