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Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma

Parmentier, Laurent
King, Bryan
Zoete, Vincent
Seplyarskiy, Vladimir B
Sharpe, Hayley J
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Published in Nature genetics. 2016, vol. 48, no. 4, p. 398-406
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.
PMID: 26950094
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Article (Accepted version) (1.5 MB) - document accessible for UNIGE members only Limited access to UNIGE
Research groups Lymphomes MALT et réplication virale (807)
Pathologie Moléculaire de la Trisomie 21 et le Génome Humain (248)
Rôle du CD44 (809)
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BONILLA BUSTILLO, Ximena et al. Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma. In: Nature Genetics, 2016, vol. 48, n° 4, p. 398-406. doi: 10.1038/ng.3525 https://archive-ouverte.unige.ch/unige:84469

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Deposited on : 2016-06-13

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