Genetic anomalies

• mismatch repair cancer syndrome
  5 May 2008

  constitutional mismatch repair-deficiency syndrome (CMMR-D syndrome);

• cancer-related genotyping technology
  7 December 2007

  Features
  prostate cancer-related genotyping technology
  Goals
  identify biomarkers
  predict survival prognoses for cancer patients

• mitochondrial DNA mutations in cancer
  17 September 2007

  Somatic mutations in mitochondrial DNA (mtDNA) have been demonstrated in various tumors.
  Tumors
  renal cell carcinomas (RCCs)
  breast cancer (#16568452#) It still remains unclear whether the alterations in mtDNA are related to the clinicopathological features and/or the prognosis in the breast cancer. (#16568452#) D-loop mutation is a significant marker that is independent of other clinical variables and that it can be used to assess the prognosis of patients. (#16568452#) Somatic (...)

• tumoral phenomics
  8 July 2007

  References
  Zbuk KM, Eng C. Cancer phenomics: RET and PTEN as illustrative model. Nat Rev Cancer. 2007 Jan;7(1):35-45. PMID: #17167516#

• databases in oncogenetics
  25 June 2007

  Cytogenetics
  Mitelman Database of Chromosome Aberrations in Cancer (MDCAC at NCBI)
  Atlas of Genetics and Cytogenetics in Oncology and Haematology (AGCOH)
  Cancer Chromosome Databse (NCBI)
  SKY-FISH
  SKY/M-FISH & CGH Database
  CGH
  Progenetix
  SKY/M-FISH & CGH Database
  LOH database
  Oncobase
  Combined database
  Oncobase

• Combined FISH and tumoral SNP genotyping
  21 June 2007

  References
  Mao X, James SY, Yanez-Munoz RJ, Chaplin T, Molloy G, Oliver RT, Young BD, Lu YJ. Rapid high-resolution karyotyping with precise identification of chromosome breakpoints. Genes Chromosomes Cancer. 2007 Jul;46(7):675-83. PMID: #17431877#

• combined CGH array and SNP tumoral genotyping
  21 June 2007

  References
  Kloth JN, Oosting J, van Wezel T, Szuhai K, Knijnenburg J, Gorter A, Kenter GG, Fleuren GJ, Jordanova ES. Combined array-comparative genomic hybridization and single-nucleotide polymorphism-loss of heterozygosity analysis reveals complex genetic alterations in cervical cancer. BMC Genomics. 2007 Feb 20;8:53. PMID: #17311676#

• genome-wide allelic imbalance analysis
  31 May 2007

  References
  Allelic imbalances and microdeletions affecting the PTPRD gene in cutaneous squamous cell carcinomas detected using single nucleotide polymorphism microarray analysis. Genes Chromosomes Cancer. 2007 Jul;46(7):661-9. PMID: #17420988#
  Wang Y, Armstrong SA. Genome-wide SNP analysis in cancer: leukemia shows the way. Cancer Cell. 2007 Apr;11(4):308-9. PMID: #17418407#
  Stark M, Hayward N. Genome-wide loss of heterozygosity and copy number analysis in melanoma using high-density (...)

• identification of a tumor suppressor gene by tumoral genotyping
  31 May 2007

  References
  Beder LB, Gunduz M, Ouchida M, Gunduz E, Sakai A, Fukushima K, Nagatsuka H, Ito S, Honjo N, Nishizaki K, Shimizu K. Identification of a candidate tumor suppressor gene RHOBTB1 located at a novel allelic loss region 10q21 in head and neck cancer. J Cancer Res Clin Oncol. 2006 Jan;132(1):19-27. PMID: #16170569#
  Horvath A, Boikos S, Giatzakis C, Robinson-White A, Groussin L, Griffin KJ, Stein E, Levine E, Delimpasi G, Hsiao HP, Keil M, Heyerdahl S, Matyakhina L, Libe R, (...)

• large-scale cancer genome sequencing
  31 March 2007

  References
  Chanock SJ, Thomas G. The devil is in the DNA. Nat Genet. 2007 Mar;39(3):283-284. PMID: #17325673#
  Thomas RK, Baker AC, Debiasi RM, Winckler W, Laframboise T, Lin WM, Wang M, Feng W, Zander T, Macconnaill LE, Lee JC, Nicoletti R, Hatton C, Goyette M, Girard L, Majmudar K, Ziaugra L, Wong KK, Gabriel S, Beroukhim R, Peyton M, Barretina J, Dutt A, Emery C, Greulich H, Shah K, Sasaki H, Gazdar A, Minna J, Armstrong SA, Mellinghoff IK, Hodi FS, Dranoff G, Mischel PS, Cloughesy (...)

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