title: Assessing the value of CAN-gene mutations using MALDI-TOF MS.
abstract: OBJECTIVE
  To identify cancer-linked genes, Sjöblom et al. and Wood et al. performed a genome-wide mutation screening in human breast and colorectal cancers. 140 CAN-genes were found in breast cancer, which in turn contained overall 334 mutations. These mutations could prove useful for diagnostic and therapeutic purposes.
  
  
  METHODS
  We used a MALDI-TOF MS 40-plex assay for testing 40 loci within 21 high-ranking breast cancer CAN-genes. To confirm mutations, we performed single-plex assays and sequencing.
  
  
  RESULTS
  In general, the mutation rate of the analyzed loci in our sample cohort was very low. No mutation from the 40 loci analyzed could be found in the 6 cell lines. In tissue samples, a single breast cancer tissue sample showed heterozygosity at locus c.5834G>A within the ZFYVE26 gene (Zinc finger FYVE domain-containing gene 26).
  
  
  CONCLUSIONS
  Sjöblom et al./Wood et al. already showed that the vast majority of CAN-genes are mutated at very low frequency. Due to the fact that we only found one mutation in our cohort, we therefore assume that at the selected loci, mutations might be low-frequency events and therefore, more rarely detectable. However, further evaluation of the CAN-gene mutations in larger cohorts should be the aim of further studies.
authors.affiliation: Laboratory for Gynecological Oncology, Women's Hospital/Department Research, Department of Biomedicine, University of Basel, Hebelstrasse 20, Room Nr. 420, 4031 Basel, Switzerland. KohlerC@uhbs.ch
authors.forename: Corina
authors.initials: C
authors.lastname: Kohler
authors.forename: Björn
authors.initials: B
authors.lastname: Tavelin
authors.forename: Alex Xiu-Cheng
authors.initials: AX
authors.lastname: Fan
authors.forename: Ramin
authors.initials: R
authors.lastname: Radpour
authors.forename: Zeinab
authors.initials: Z
authors.lastname: Barekati
authors.forename: Fabio
authors.initials: F
authors.lastname: Levi
authors.forename: Xiao Yan
authors.initials: XY
authors.lastname: Zhong
authors.forename: Per
authors.initials: P
authors.lastname: Lenner
authors.forename: Paolo
authors.initials: P
authors.lastname: Toniolo
mesh_terms: D000328:Adult; D014408:Biomarkers, Tumor / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics*; D018270:Carcinoma, Ductal, Breast / Q000235:genetics; D018276:Carcinoma, Medullary / Q000235:genetics; D045744:Cell Line, Tumor; D015179:Colorectal Neoplasms / Q000235:genetics*; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D028861:Nuclear Pore Complex Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D011237:Predictive Value of Tests; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
chemical_list: D014408:Biomarkers, Tumor; D004273:DNA, Neoplasm; C085914:NUP214 protein, human; D028861:Nuclear Pore Complex Proteins