Mutational profiling of cancer candidate genes in glioblastoma, melanoma and pancreatic carcinoma reveals a snapshot of their genomic landscapes
Open accessAbstract
A recent systematic analysis of 18.191 well annotated coding sequences (RefSeq) in breast and colorectal cancers has led to the identification of somatic mutations in 1.718 genes (Wood et al., 2007). Based on statistical parameters 280 of these have been denominated candidate cancer (CAN) genes. This analysis has provided an interesting snapshot of the landscape of tumor genomes by showing that they contain a few frequently mutated genes (denominated 'mountains'). On the contrary, the large majority of CAN genes are altered at low frequency (designated 'hills'). Whether 'hill' type CAN genes are tumor specific is largely unknown. To address this question we evaluated the mutational profiles of 27 'hill' CAN genes in glioblastoma, melanoma and pancreatic carcinoma by sequencing the exons previously found mutated by Wood and colleagues. Only 4 of the breast/colorectal 'hill' type CAN genes (SMAD4, MYO18B, NAV3 and MMP2) were also mutated in melanoma and pancreatic carcinoma, while none was altered in glioblastoma. These results suggest that 'hill' type CAN genes are not frequently shared by different tumor types and that their mutation patterns are tissue specific. Tumor-specific genome wide mutational profiling will be required to identify 'hill' type CAN genes that characterize the genomic landscapes of each cancer lineage.
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Monoallelic mutation of the same IDH1 residue or the analogous IDH2 residue is common in gliomas, with more than 80% of indolent gliomas harboring such a mutation.
“Monoallelic mutation of the same residue in IDH1, or the analogous residue in the related enzyme IDH2, is a common feature of gliomas as more than 80% of indolent gliomas harbor such a mutation (28, 29).”
From Understanding the Warburg Effect: The Metabolic Requirements of Cell Proliferation (2009) · cites this paper as [28]
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Moore, M. J., Goldstein, D., Hamm, J., Figer, A., Hecht, J. R., Gallinger, S., Au, H. J., Murawa, P., Walde, D., Wolff, R. A., et al. (2007) · Journal of Clinical Oncology · doi:10.1200/jco.2006.07.9525 · Cited by 3,848 · see citing works
<i>DPC4</i> , A Candidate Tumor Suppressor Gene at Human Chromosome 18q21.1
Hahn, S. A., Schutte, M., Shamsul Hoque, A. T. M., Moskaluk, C. A., da Costa, L. T., Rozenblum, E., Weinstein, C. L., Fischer, A., Yeo, C. J., Hruban, R. H., et al. (1996) · Science · doi:10.1126/science.271.5247.350 · Cited by 2,337 · see citing works
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Understanding the Warburg Effect: The Metabolic Requirements of Cell Proliferation
Vander Heiden, M. G., Cantley, L. C., & Thompson, C. B. (2009) · Science · doi:10.1126/science.1160809 · Cited by 16,197 · see citing works
- Authors
- Bleeker, F. E., Lamba, S., Rodolfo, M., Scarpa, A., Leenstra, S., Vandertop, W. P., & Bardelli, A.
- Affiliations
- Amsterdam UMC Location University of Amsterdam (NL)
- University of Turin (IT)
- Fondazione IRCCS Istituto Nazionale dei Tumori (IT)
- University of Verona (IT)
- Elisabeth-TweeSteden Ziekenhuis (NL)
- IFOM (IT)
- Corresponding author
- Bardelli, Alberto
- ORCID
- Venue
- Human Mutation
- Publisher
- Hindawi Limited
- Published
- 2009-02
- Volume
- 30
- Issue
- 2
- Pages
- E451-E459
- ISSN
- 1059-7794 (ISSN-L)
- 1098-1004
- OpenAlex
- W2030688866
- Cited by
- 49
- References
- 2
- Citations by year
- 2026: 1 · 2024: 1 · 2023: 3 · 2021: 2 · 2020: 7 · 2019: 2 · 2018: 2 · 2017: 2 · 2016: 2 · 2015: 2 · 2014: 4 · 2013: 2 · 2012: 4
- FWCI
- 1.69
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Human Mutation (publishedVersion)
- PubMed (publishedVersion)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Digital Academic REpository of VU University Amsterdam (Vrije Universiteit Amsterdam) (submittedVersion)
- Institutional Research Information System University of Turin (University of Turin) (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Funders
- Ministero della Salute
- Associazione Italiana per la Ricerca sul Cancro
- Regione Piemonte
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Chromatin Remodeling and Cancer
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- candidate cancer genes, somatic mutations, mutational profiling, glioblastoma, melanoma, pancreatic cancer, tumor-specific mutations, tumor genomic landscape, SMAD4, NAV3, MMP-2
- MeSH terms
- Adult, Aged, Aged, 80 and over, Base Sequence, DNA Mutational Analysis, Female, Glioblastoma, Humans, Male, Melanoma, Middle Aged, Molecular Sequence Data, Mutation, Pancreatic Neoplasms, Genome, Human, Cell Line, Tumor, Genes, Neoplasm
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