Assessing the value of CAN-gene mutations using MALDI-TOF MS View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2011-06-21

AUTHORS

Corina Kohler, Björn Tavelin, Alex Xiu-Cheng Fan, Ramin Radpour, Zeinab Barekati, Fabio Levi, Xiao Yan Zhong, Per Lenner, Paolo Toniolo

ABSTRACT

PurposeTo 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.MethodsWe 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.ResultsIn 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).ConclusionsSjöblom 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. More... »

PAGES

1239-1244

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00432-011-0990-4

DOI

http://dx.doi.org/10.1007/s00432-011-0990-4

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1038887802

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/21691751


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