Article
Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma.
Nature genetics - 1 Apr 2016
Bonilla Ximena, Parmentier Laurent, King Bryan, Bezrukov Fedor, Kaya Gürkan, Zoete Vincent, Seplyarskiy Vladimir B, Sharpe Hayley J, McKee Thomas, Letourneau Audrey, Ribaux Pascale G, Popadin Konstantin, Basset-Seguin Nicole, Ben Chaabene Rouaa, Santoni Federico A, Andrianova Maria A, Guipponi Michel, Garieri Marco, Verdan Carole, Grosdemange Kerstin, Sumara Olga, Eilers Martin, Aifantis Iannis, Michielin Olivier, de Sauvage Frederic J, Antonarakis Stylianos E, Nikolaev Sergey I
Abstract excerpt
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...
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