Rolling the Genetic Dice: Neutral and Deleterious Smoothened Mutations in Drug-Resistant Basal Cell Carcinoma

Journal of Investigative Dermatology

Volumn 135, Issue 8, 2015, Pages 2138-2141

  Atwood, Scott X ^a   Sarin, Kavita Y ^a   Li, Jiang R ^a   Yao, Catherine Y ^a   Urman, Nicole M ^a   Chang, Anne Lynn S ^a   Tang, Jean Y ^a   Oro, Anthony E ^a  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; SMOOTHENED PROTEIN; SONIC HEDGEHOG PROTEIN; TRANSCRIPTION FACTOR GLI1; VISMODEGIB; GLI1 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ALLELE; BASAL CELL CARCINOMA; CRYSTAL STRUCTURE; DIPLOIDY; DNA REPAIR; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENOMICS; HIGH THROUGHPUT SEQUENCING; HUMAN; IC50; LETTER; LIGAND BINDING; LOSS OF FUNCTION MUTATION; MOLECULAR CLONING; NONHUMAN; PERSONALIZED MEDICINE; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; TUMOR GROWTH; TUMOR VOLUME; DRUG RESISTANCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENETICS; MUTATION; SKIN TUMOR;

CARCINOMA, BASAL CELL; DRUG RESISTANCE, NEOPLASM; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; HEDGEHOG PROTEINS; HUMANS; MUTATION; SKIN NEOPLASMS; TRANSCRIPTION FACTORS;

EID: 84937628121     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2015.115     Document Type: Letter

References (9)

1. Alexandrov LB, Nik-Zainal S, Wedge DC et al. (2013) Signatures of mutational processes in human cancer. Nature 500:415-21
2. Atwood SX, Sarin KY, Whitson RJ et al. (2015) Smoothened variants explain the majority of drug resistance in basal cell carcinoma. Cancer Cell 27:342-53
3. Atwood SX, Whitson RJ, Oro AE (2014) Advanced treatment for basal cell carcinomas. Cold Spring Harb Perspect Med 4:a013581
4. Jayaraman SS, Rayhan DJ, Hazany S et al. (2014) Mutational landscape of Basal cell carcinomas by whole-exome sequencing. J Invest Derma-tol 134:213-20
5. Kool M, Jones DTW, Jäger N et al. (2014) Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition. Cancer Cell 25:393-405
6. Lee CS, Bhaduri A, Mah A et al. (2014) Recurrent point mutations in the kinetochore gene KNSTRN in cutaneous squamous cell carcinoma. Nat Genet 46:1060-2
7. Sweeney RT, McClary AC, Myers BR et al. (2014) Identification of recurrent SMO and BRAF mutations in ameloblastomas. Nat Genet 46: 722-5
8. Wang C, Wu H, Katritch V et al. (2013) Structure of the human smoothened receptor bound to an antitumour agent. Nature 497:338-43
9. Yauch RL, Dijkgraaf GJP, Alicke B et al. (2009) Smoothened mutation confers resistance to a Hedgehog pathway inhibitor in medulloblas-toma. Science 326:572-4