Genetic anomalies

• acquired RAS-mediated resistance to cetuximab
  29 April 2016

  Open references
  Liquid biopsy monitoring uncovers acquired RAS-mediated resistance to cetuximab in a substantial proportion of patients with head and neck squamous cell carcinoma. Braig F, Voigtlaender M, Schieferdecker A, Busch CJ, Laban S, Grob T, Kriegs M, Knecht R, Bokemeyer C, Binder M. Oncotarget. 2016 Apr 22. doi:10.18632/oncotarget.8943 . PMID: #27119512# (Free)

• rare germline variants in tumors
  5 February 2016

  Open references
  Patterns and functional implications of rare germline variants across 12 cancer types.
  Lu C, Xie M, Wendl MC, Wang J, McLellan MD, Leiserson MD, Huang KL, Wyczalkowski MA, Jayasinghe R, Banerjee T, Ning J, Tripathi P, Zhang Q, Niu B, Ye K, Schmidt HK, Fulton RS, McMichael JF, Batra P, Kandoth C, Bharadwaj M, Koboldt DC, Miller CA, Kanchi KL, Eldred JM, Larson DE, Welch JS, You M, Ozenberger BA, Govindan R, Walter MJ, Ellis MJ, Mardis ER, Graubert TA, Dipersio JF, Ley TJ, (...)

• mutational landscape in tumors
  5 February 2016

  Open references
  Mutational landscape and significance across 12 major cancer types.
  Kandoth C, McLellan MD, Vandin F, Ye K, Niu B, Lu C, Xie M, Zhang Q, McMichael JF, Wyczalkowski MA, Leiserson MD, Miller CA, Welch JS, Walter MJ, Wendl MC, Ley TJ, Wilson RK, Raphael BJ, Ding L.
  Nature. 2013 Oct 17;502(7471):333-9. doi:10.1038/nature12634
  PMID: #24132290#

• targeted sequencing in leukemias
  25 February 2015, by admin

  References
  Next generation sequencing based multi-gene mutational screen foracute myeloid leukemia using miseq: applicability for diagnostics anddisease monitoring. Luthra R, Patel KP, Reddy NG, Haghshenas V, Routbort MJ, Harmon MA, Barkoh BA, Kanagal-Shamanna R, Ravandi F, Cortes JE, Kantarjian HM, Medeiros LJ, Singh RR. Haematologica. 2013 Oct 18. PMID: #24142997#

• molecular profiling in leukemias
  7 January 2014

  References
  Grossmann, V., Kohlman, A., Eder, C., Haferlach, C., Kern, W., Cross, N.C., Haferlach, T., Schnittger, S. February 22, 2011. Molecular profiling of chronic myelomonocytic leukemia reveals diverse mutations in >80% of patients with TET2 and EZH2 being of high prognostic relevance. Leukemia

• cancer genetic variant
  5 January 2014

  Somatic Genetic Variant in cancer

• molecular analysis of sarcomas
  9 July 2013

  See also
  sarcomas
  References
  Impact of Molecular Analysis on the Final Sarcoma Diagnosis: A Study on 763 Cases Collected During a European Epidemiological Study. Neuville A, Ranchère-Vince D, Dei Tos AP, Cristina Montesco M, Hostein I, Toffolatti L, Chibon F, Pissaloux D, Alberti L, Decouvelaere AV, Albert S, Riccardo Rossi C, Blay JY, Coindre JM. Am J Surg Pathol. 2013 Jun 14. PMID: (...)

• MLH1-associated pediatric cancer syndrome
  14 February 2011

  See also
  MMR-associated pediatric cancer syndrome
  MMR genes
  MMR deficiency
  hereditary nonpolyposis colorectal cancer (HNPCCs)
  References
  Homozygosity at variant MLH1 can lead to secondary mutation in NF1, neurofibromatosis type I and early onset leukemia. Alotaibi H, Ricciardone MD, Ozturk M. Mutat Res. 2008 Jan 1;637(1-2):209-14. PMID: #17889038#
  Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation. Gallinger S, (...)

• MMR-associated childhood cancer syndrome
  14 February 2011

  MisMatchRepair-associated childhood cancer syndrome (MMR-CCS); MMR-associated childhood cancer syndrome (MMR-CCS)

• uniparental disomy and cancer
  25 January 2010

  References
  Flotho C, Steinemann D, Mullighan CG, Neale G, Mayer K, Kratz CP, Schlegelberger B, Downing JR, Niemeyer CM. Genome-wide single-nucleotide polymorphism analysis in juvenile myelomonocytic leukemia identifies uniparental disomy surrounding the NF1 locus in cases associated with neurofibromatosis but not in cases with mutant RAS or PTPN11. Oncogene. 2007 Mar 12; PMID: (...)

0 | 10 | 20 | 30 | 40