Assessing the value of CAN-gene mutations using MALDI-TOF MS.

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Version: author
Serval ID
serval:BIB_1EADACD1795E
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Assessing the value of CAN-gene mutations using MALDI-TOF MS.
Journal
Journal of Cancer Research and Clinical Oncology
Author(s)
Kohler Corina, Tavelin Björn, Fan Alex Xiu-Cheng, Radpour Ramin, Barekati Zeinab, Levi Fabio, Zhong Xiao Yan, Lenner Per, Toniolo Paolo
ISSN
1432-1335 (Electronic)
ISSN-L
0171-5216
Publication state
Published
Issued date
2011
Peer-reviewed
Oui
Volume
137
Number
8
Pages
1239-1244
Language
english
Abstract
PURPOSE: 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.
Pubmed
Web of science
Create date
22/06/2011 16:18
Last modification date
18/06/2020 7:08
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