The DOI matches its Crossref record; 85 of the 85 references it cites were found in a registry or an index.
Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma
Abstract
Basal cell carcinoma (BCC) of the skin is the most common malignant neoplasm in humans. BCC is primarily driven by the Sonic Hedgehog (Hh) pathway. However, its phenotypic variation remains unexplained. Our genetic profiling of 293 BCCs found the highest mutation rate in cancer (65 mutations/Mb). Eighty-five percent of the BCCs harbored mutations in Hh pathway genes (PTCH1, 73% or SMO, 20% (P = 6.6 × 10−8) and SUFU, 8%) and in TP53 (61%). However, 85% of the BCCs also harbored additional driver mutations in other cancer-related genes. We observed recurrent mutations in MYCN (30%), PPP6C (15%), STK19 (10%), LATS1 (8%), ERBB2 (4%), PIK3CA (2%), and NRAS, KRAS or HRAS (2%), and loss-of-function and deleterious missense mutations were present in PTPN14 (23%), RB1 (8%) and FBXW7 (5%). Consistent with the mutational profiles, N-Myc and Hippo-YAP pathway target genes were upregulated. Functional analysis of the mutations in MYCN, PTPN14 and LATS1 suggested their potential relevance in BCC tumorigenesis.
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Metadata
- Authors
- Bonilla, X., Parmentier, L., King, B., Bezrukov, F., Kaya, G., Zoete, V., Seplyarskiy, V. B., Sharpe, H. J., McKee, T., Letourneau, A., Ribaux, P. G., Popadin, K., Basset-Seguin, N., Chaabene, R. B., Santoni, F. A., Andrianova, M. A., Guipponi, M., Garieri, M., Verdan, C., Grosdemange, K., Sumara, O., Eilers, M., Aifantis, I., Michielin, O., de Sauvage, F. J., Antonarakis, S. E., & Nikolaev, S. I.
- Venue
- Nature Genetics
- Published
- 2016-03-07
- Volume
- 48
- Issue
- 4
- Pages
- 398-406
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2293178613
- Cited by
- 490
- References
- 85
- FWCI
- 38.98
- Type
- journal article
- Language
- en
- Open access
- closed
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- Bonilla, X., Parmentier, L., King, B., Bezrukov, F., Kaya, G., Zoete, V., Seplyarskiy, V. B., Sharpe, H. J., McKee, T., Letourneau, A., Ribaux, P. G., Popadin, K., Basset-Seguin, N., Chaabene, R. B., Santoni, F. A., Andrianova, M. A., Guipponi, M., Garieri, M., Verdan, C., . . . Nikolaev, S. I. (2016). Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma. Nature Genetics. https://doi.org/10.1038/ng.3525
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
