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Original Articles

Misidentification of MLL3 and other mutations in cancer due to highly homologous genomic regions

, , , , , , , , , , , , , , , , , , , & ORCID Icon show all
Pages 3132-3137 | Received 25 Apr 2019, Accepted 04 Jun 2019, Published online: 10 Jul 2019

References

  • Ley TJ, Ding L, Walter MJ, et al. DNMT3A mutations in acute myeloid leukemia. N Engl J Med. 2010;363:2424–2433.
  • Mardis ER, Ding L, Dooling DJ, et al. Recurring mutations found by sequencing an acute myeloid leukemia genome. N Engl J Med. 2009;361:1058–1066.
  • Garg M, Nagata Y, Kanojia D, et al. Profiling of somatic mutations in acute myeloid leukemia with FLT3-ITD at diagnosis and relapse. Blood. 2015;126:2491–2501.
  • Li W-D, Li Q-R, Xu S-N, et al. Exome sequencing identifies an MLL3 gene germ line mutation in a pedigree of colorectal cancer and acute myeloid leukemia. Blood. 2013;121:1478–1479.
  • Dolnik A, Engelmann JC, Scharfenberger-Schmeer M, et al. Commonly altered genomic regions in acute myeloid leukemia are enriched for somatic mutations involved in chromatin remodeling and splicing. Blood. 2012;120:e83–92.
  • Chen C, Liu Y, Rappaport AR, et al. MLL3 is a haploinsufficient 7q tumor suppressor in acute myeloid leukemia. Cancer Cell. 2014;25:652–665.
  • Valentine MC, Linabery AM, Chasnoff S, et al. Excess congenital non-synonymous variation in leukemia-associated genes in MLL- infant leukemia: a Children's Oncology Group report. Leukemia. 2014;28:1235–1241.
  • McKenna A, Hanna M, Banks E, et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20:1297–1303.
  • Koboldt DC, Chen K, Wylie T, et al. VarScan: variant detection in massively parallel sequencing of individual and pooled samples. Bioinformatics. 2009;25:2283–2285.
  • Cancer Genome Atlas Research N, et al. The Cancer Genome Atlas Pan-Cancer analysis project. Nat Genet. 2013;45:1113–1120.
  • Kuhn MWM, Radtke I, Bullinger L, et al. High-resolution genomic profiling of adult and pediatric core-binding factor acute myeloid leukemia reveals new recurrent genomic alterations. Blood. 2012;119:e67–e75.
  • Pickering CR, Zhou JH, Lee JJ, et al. Mutational landscape of aggressive cutaneous squamous cell carcinoma. Clin Cancer Res. 2014;20:6582–6592.
  • Jones S, Stransky N, McCord CL, et al. Genomic analyses of gynaecologic carcinosarcomas reveal frequent mutations in chromatin remodelling genes. Nat Commun. 2014;5:5006.
  • Sherry ST, Ward MH, Kholodov M, et al. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 2001;29:308–311.
  • Forbes SA, et al. The catalogue of somatic mutations in cancer (COSMIC). Curr Protoc Hum Genet. 2008;Chapter 10: p. Unit 10 11.
  • Derrien T, Estellé J, Marco Sola S, et al. Fast computation and applications of genome mappability. PLoS One. 2012;7:e30377.
  • Genomes Project C, et al. A global reference for human genetic variation. Nature. 2015;526:68–74.
  • Lawrence M, Huber W, Pagès H, et al. Software for computing and annotating genomic ranges. PLoS Comput Biol. 2013;9:e1003118.

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