The DOI matches its Crossref record; 8 of the 8 references it cites were found in a registry or an index.
Whole genome sequencing of matched primary and metastatic acral melanomas
Open accessAbstract
Next generation sequencing has enabled systematic discovery of mutational spectra in cancer samples. Here, we used whole genome sequencing to characterize somatic mutations and structural variation in a primary acral melanoma and its lymph node metastasis. Our data show that the somatic mutational rates in this acral melanoma sample pair were more comparable to the rates reported in cancer genomes not associated with mutagenic exposure than in the genome of a melanoma cell line or the transcriptome of melanoma short-term cultures. Despite the perception that acral skin is sun-protected, the dominant mutational signature in these samples is compatible with damage due to ultraviolet light exposure. A nonsense mutation in ERCC5 discovered in both the primary and metastatic tumors could also have contributed to the mutational signature through accumulation of unrepaired dipyrimidine lesions. However, evidence of transcription-coupled repair was suggested by the lower mutational rate in the transcribed regions and expressed genes. The primary and the metastasis are highly similar at the level of global gene copy number alterations, loss of heterozygosity and single nucleotide variation (SNV). Furthermore, the majority of the SNVs in the primary tumor were propagated in the metastasis and one nonsynonymous coding SNV and one splice site mutation appeared to arise de novo in the metastatic lesion.
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Cites
Kumar, P., Henikoff, S., & Ng, P. C. (2009) · Nature Protocols · doi:10.1038/nprot.2009.86 · Cited by 6,521
Distant metastasis occurs late during the genetic evolution of pancreatic cancer
Yachida, S., Jones, S., Bozic, I., Antal, T., Leary, R., Fu, B., Kamiyama, M., Hruban, R. H., Eshleman, J. R., Nowak, M. A., et al. (2010) · Nature · doi:10.1038/nature09515 · Cited by 2,502
A comprehensive catalogue of somatic mutations from a human cancer genome
Pleasance, E. D., Cheetham, R. K., Stephens, P. J., McBride, D. J., Humphray, S. J., Greenman, C. D., Varela, I., Lin, M.-L., Ordóñez, G. R., Bignell, G. R., et al. (2010) · Nature · doi:10.1038/nature08658 · Cited by 1,696
Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays
Drmanac, R., Sparks, A. B., Callow, M. J., Halpern, A. L., Burns, N. L., Kermani, B. G., Carnevali, P., Nazarenko, I., Nilsen, G. B., Yeung, G., et al. (2010) · Science · doi:10.1126/science.1181498 · Cited by 1,212
Integrative analysis of the melanoma transcriptome
Berger, M. F., Levin, J. Z., Vijayendran, K., Sivachenko, A., Adiconis, X., Maguire, J., Johnson, L. A., Robinson, J., Verhaak, R. G., Sougnez, C., et al. (2010) · Genome Research · doi:10.1101/gr.103697.109 · Cited by 305
Geyer, F. C., Weigelt, B., Natrajan, R., Lambros, M. B., de Biase, D., Vatcheva, R., Savage, K., Mackay, A., Ashworth, A., & Reis‐Filho, J. S. (2010) · The Journal of Pathology · doi:10.1002/path.2675 · Cited by 233
Self-citationDaya-Grosjean, L., & Sarasin, A. (2005) · Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis · doi:10.1016/j.mrfmmm.2004.11.013 · Cited by 142 · cited 2×
“%) were at the 39 base of pyrimidine di-nucleotides (TpC or CpC), another feature associated with UV-induced damage (Daya-Grosjean and Sarasin 2005).”
BackgroundSimilar Nucleotide Excision Repair Capacity in Melanocytes and Melanoma Cells
Gaddameedhi, S., Kemp, M. G., Reardon, J. T., Shields, J. M., Smith-Roe, S. L., Kaufmann, W. K., & Sancar, A. (2010) · Cancer Research · doi:10.1158/0008-5472.can-10-0095 · Cited by 56
Cited by
Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma
Krauthammer, M., Kong, Y., Ha, B. H., Evans, P., Bacchiocchi, A., McCusker, J. P., Cheng, E., Davis, M. J., Goh, G., Choi, M., et al. (2012) · Nature Genetics · doi:10.1038/ng.2359 · Cited by 1,191
Metastasis as an evolutionary process
Turajlic, S., & Swanton, C. (2016) · Science · doi:10.1126/science.aaf2784 · Cited by 661
Self-citationEvolution of the cancer genome
Yates, L. R., & Campbell, P. J. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3317 · Cited by 640
SF3B1 Mutations Are Associated with Alternative Splicing in Uveal Melanoma
Furney, S. J., Pedersen, M., Gentien, D., Dumont, A. G., Rapinat, A., Desjardins, L., Turajlic, S., Piperno-Neumann, S., de la Grange, P., Roman-Roman, S., et al. (2013) · Cancer Discovery · doi:10.1158/2159-8290.cd-13-0330 · Cited by 434
Self-citationPhenotype plasticity as enabler of melanoma progression and therapy resistance
Arozarena, I., & Wellbrock, C. (2019) · Nature Reviews Cancer · doi:10.1038/s41568-019-0154-4 · Cited by 381
Metadata
- Authors
- Turajlic, S., Furney, S. J., Lambros, M. B., Mitsopoulos, C., Kozarewa, I., Geyer, F. C., MacKay, A., Hakas, J., Zvelebil, M., Lord, C. J., Ashworth, A., Thomas, M., Stamp, G., Larkin, J., Reis-Filho, J. S., & Marais, R.
- Venue
- Genome Research
- Publisher
- Cold Spring Harbor Laboratory
- Published
- 2011-12-19
- Volume
- 22
- Issue
- 2
- Pages
- 196-207
- ISSN
- 1088-9051 (ISSN-L)
- OpenAlex
- W2163544895
- Cited by
- 163
- References
- 8
- Type
- posted content
- Language
- en
- Open access
- hybrid
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- CoChat. (2026). Citation check: Whole genome sequencing of matched primary and metastatic acral melanomas. https://app.cochat.ai/papers/10.1101/gr.125591.111
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- Turajlic, S., Furney, S. J., Lambros, M. B., Mitsopoulos, C., Kozarewa, I., Geyer, F. C., MacKay, A., Hakas, J., Zvelebil, M., Lord, C. J., Ashworth, A., Thomas, M., Stamp, G., Larkin, J., Reis-Filho, J. S., & Marais, R. (2012). Whole genome sequencing of matched primary and metastatic acral melanomas. Genome Research. https://doi.org/10.1101/gr.125591.111
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