The DOI matches its Crossref record; 61 of the 61 references it cites were found in a registry or an index.
Characterization of the mutational landscape of anaplastic thyroid cancer via whole-exome sequencing
Open accessAbstract
Anaplastic thyroid carcinoma (ATC) is a frequently lethal malignancy that is often unresponsive to available therapeutic strategies. The tumorigenesis of ATC and its relationship to the widely prevalent well-differentiated thyroid carcinomas are unclear. We have analyzed 22 cases of ATC as well as 4 established ATC cell lines using whole-exome sequencing. A total of 2674 somatic mutations (121/sample) were detected. Ontology analysis revealed that the majority of variants aggregated in the MAPK, ErbB and RAS signaling pathways. Mutations in genes related to malignancy not previously associated with thyroid tumorigenesis were observed, including mTOR, NF1, NF2, MLH1, MLH3, MSH5, MSH6, ERBB2, EIF1AX and USH2A; some of which were recurrent and were investigated in 24 additional ATC cases and 8 ATC cell lines. Somatic mutations in established thyroid cancer genes were detected in 14 of 22 (64%) tumors and included recurrent mutations in BRAF, TP53 and RAS-family genes (6 cases each), as well as PIK3CA (2 cases) and single cases of CDKN1B, CDKN2C, CTNNB1 and RET mutations. BRAF V600E and RAS mutations were mutually exclusive; all ATC cell lines exhibited a combination of mutations in either BRAF and TP53 or NRAS and TP53. A hypermutator phenotype in two cases with >8 times higher mutational burden than the remaining mean was identified; both cases harbored unique somatic mutations in MLH mismatch-repair genes. This first comprehensive exome-wide analysis of the mutational landscape of ATC identifies novel genes potentially associated with ATC tumorigenesis, some of which may be targets for future therapeutic intervention.
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Self-citationMolecular pathogenesis and mechanisms of thyroid cancer
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Genetic Analysis of 779 Advanced Differentiated and Anaplastic Thyroid Cancers
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EIF1AX and RAS Mutations Cooperate to Drive Thyroid Tumorigenesis through ATF4 and c-MYC
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Metadata
- Authors
- Kunstman, J. W., Juhlin, C. C., Goh, G., Brown, T. C., Stenman, A., Healy, J. M., Rubinstein, J. C., Choi, M., Kiss, N., Nelson-Williams, C., Mane, S., Rimm, D. L., Prasad, M. L., Höög, A., Zedenius, J., Larsson, C., Korah, R., Lifton, R. P., & Carling, T.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2015-01-09
- Volume
- 24
- Issue
- 8
- Pages
- 2318-2329
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W1971381075
- Cited by
- 364
- References
- 61
- FWCI
- 27.09
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Kunstman, J. W., Juhlin, C. C., Goh, G., Brown, T. C., Stenman, A., Healy, J. M., Rubinstein, J. C., Choi, M., Kiss, N., Nelson-Williams, C., Mane, S., Rimm, D. L., Prasad, M. L., Höög, A., Zedenius, J., Larsson, C., Korah, R., Lifton, R. P., & Carling, T. (2015). Characterization of the mutational landscape of anaplastic thyroid cancer via whole-exome sequencing. Human Molecular Genetics. https://doi.org/10.1093/hmg/ddu749
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