Melanoma genome sequencing reveals frequent PREX2 mutations

Nature

Volumn 485, Issue 7399, 2012, Pages 502-506

  Berger, Michael F ^a,j   Hodis, Eran ^a   Heffernan, Timothy P ^b,k   Deribe, Yonathan Lissanu ^b,k   Lawrence, Michael S ^a   Protopopov, Alexei ^b,k   Ivanova, Elena ^b   Watson, Ian R ^b,k   Nickerson, Elizabeth ^a   Ghosh, Papia ^b   Zhang, Hailei ^b   Zeid, Rhamy ^b   Ren, Xiaojia ^b   Cibulskis, Kristian ^a   Sivachenko, Andrey Y ^a   Wagle, Nikhil ^b,c   Sucker, Antje ^d   Sougnez, Carrie ^a   Onofrio, Robert ^a   Ambrogio, Lauren ^a   Auclair, Daniel ^a   Fennell, Timothy ^a   Carter, Scott L ^a   Drier, Yotam ^e   Stojanov, Petar ^a   Singer, Meredith A ^b,k   Voet, Douglas ^a   Jing, Rui ^a   Saksena, Gordon ^a   Barretina, Jordi ^a   Ramos, Alex H ^a,c   Pugh, Trevor J ^a,b,c   Stransky, Nicolas ^a   Parkin, Melissa ^a   Winckler, Wendy ^a   Mahan, Scott ^a   Ardlie, Kristin ^a   Baldwin, Jennifer ^a   Wargo, Jennifer ^f   Schadendorf, Dirk ^d   Meyerson, Matthew ^a,b,c   Gabriel, Stacey B ^a   Golub, Todd R ^a,b,g   Wagner, Stephan N ^h   Lander, Eric S ^a,i   Getz, Gad ^a   Chin, Lynda ^a,b,c,k   Garraway, Levi A ^a,b,c   more..

^a BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^b DANA FARBER CANCER INSTITUTE   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d UNIVERSITY HOSPITAL ESSEN   (Germany)

^e WEIZMANN INSTITUTE OF SCIENCE   (Israel)

^f MASSACHUSETTS GENERAL HOSPITAL   (United States)

^g HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^h Universitatsklinik fur Dermatologie   (Austria)

ⁱ WHITEHEAD INSTITUTE FOR BIOMEDICAL RESEARCH   (United States)

^j MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^k UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA; PHOSPHATIDYLINOSITOL 3,4,5 TRIPHOSPHATE DEPENDENT RAC EXCHANGE FACTOR 2; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; UNCLASSIFIED DRUG;

GENE EXPRESSION; GENOME; GENOMICS; MUTATION; PATHOGEN; PHOSPHATE; ULTRAVIOLET RADIATION;

ALOPECIA; ARTICLE; BREAST CANCER; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; HUMAN; MELANOCYTE; METASTATIC MELANOMA; POINT MUTATION; PRIORITY JOURNAL; PROTEIN INTERACTION; SUN EXPOSURE; TRUNK;

CHROMOSOME BREAKPOINTS; DNA DAMAGE; DNA MUTATIONAL ANALYSIS; GENE EXPRESSION REGULATION, NEOPLASTIC; GENOME, HUMAN; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; MELANOCYTES; MELANOMA; MUTAGENESIS; MUTATION; ONCOGENES; SUNLIGHT; ULTRAVIOLET RAYS;

EID: 84861427327     PISSN: 00280836     EISSN: 14764687     Source Type: Journal    
DOI: 10.1038/nature11071     Document Type: Article

References (29)

1. Chin, L. The genetics of malignant melanoma: lessons from mouse and man. Nature Rev. Cancer 3, 559-570 (2003).
2. Fine, B. et al. Activation of the PI3K pathway in cancer through inhibition of PTEN by exchange factor P-REX2a. Science 325, 1261-1265 (2009).
3. Berger, M. F. et al. Integrative analysis of the melanoma transcriptome. Genome Res. 20, 413-427 (2010).
4. Chapman, M.A. et al. Initial genomesequencingandanalysis ofmultiplemyeloma. Nature 471, 467-472 (2011).
5. Greenman, C. et al. Patterns of somatic mutation in human cancer genomes. Nature 446, 153-158 (2007).
6. Kan, Z. et al. Diverse somaticmutation patterns and pathway alterations in human cancers. Nature 466, 869-873 (2010).
7. Pleasance, E. D. et al. A comprehensive catalogue of somatic mutations from a human cancer genome. Nature 463, 191-196 (2010).
8. Wei, X. et al. Exome sequencing identifies GRIN2A as frequently mutated in melanoma. Nature Genet. 43, 442-446 (2011).
9. Drobetsky, E. A., Grosovsky, A. J. & Glickman, B. W. The specificity of UV-induced mutations at an endogenous locus in mammalian cells. Proc. Natl Acad. Sci. USA 84, 9103-9107 (1987).
10. Vrieling, H. et al. Strand specificity for UV-inducedDNA repair andmutations in the Chinese hamster HPRT gene. Nucleic Acids Res. 19, 2411-2415 (1991).
11. Rubin, A. F. & Green, P. Mutation patterns in cancer genomes. Proc. Natl Acad. Sci. USA 106, 21766-21770 (2009).
12. Curtin, J. A., Busam, K., Pinkel, D. & Bastian, B. C. Somatic activation of KIT in distinct subtypes of melanoma. J. Clin. Oncol. 24, 4340-4346 (2006).
13. Hodi, F. S. et al. Major response to imatinib mesylate in KIT-mutated melanoma. J. Clin. Oncol. 26, 2046-2051 (2008).
14. Stephens, P. J. et al. Massive genomic rearrangement acquired in a single catastrophic event during cancer development. Cell 144, 27-40 (2011).
15. Rausch, T. et al. Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations. Cell 148, 59-71 (2012).
16. Kloosterman, W. P. et al. Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer. Genome Biol. 12, R103 (2011).
17. Bignell, G. R. et al. Signatures of mutation and selection in the cancer genome. Nature 463, 893-898 (2010).
18. Berger, M. F. et al. The genomic complexity of primary human prostate cancer. Nature 470, 214-220 (2011).
19. Nakahata, S. & Kawamoto, S. Tissue-dependent isoforms of mammalian Fox-1 homologs are associated with tissue-specific splicing activities. Nucleic Acids Res. 33, 2078-2089 (2005).
20. Curtin, J. A. et al. Distinct sets of genetic alterations in melanoma. N. Engl. J. Med. 353, 2135-2147 (2005).
21. Jané-Valbuena, J. et al. An oncogenic role for ETV1 in melanoma. Cancer Res. 70, 2075-2084 (2010).
22. Garraway, L. A. et al. Integrative genomicanalyses identifyMITF asa lineagesurvival oncogene amplified in malignant melanoma. Nature 436, 117-122 (2005).
23. Forbes, S. A. et al. COSMIC (the Catalogue of Somatic Mutations in Cancer): a resource to investigate acquired mutations in human cancer. Nucleic Acids Res. 38, D652-D657 (2010).
24. Reva, B., Antipin, Y. & Sander, C. Predicting the functional impact of protein mutations: application to cancer genomics. Nucleic Acids Res. 39, e118 (2011).
25. Flaherty, K. T., Hodi, F. S. & Bastian, B. C. Mutation-driven drug development in melanoma. Curr. Opin. Oncol. 22, 178-183 (2010).
26. Flaherty, K. T. et al. Inhibition ofmutated, activated BRAF in metastatic melanoma. N. Engl. J. Med. 363, 809-819 (2010).
27. Chapman, P. B. et al. Improved survival with vemurafenib in melanoma with BRAF V600E mutation. N. Engl. J. Med. 364, 2507-2516 (2011).
28. Solit, D. B.&Rosen, N. Resistance toBRAF inhibition in melanomas. N. Engl. J.Med. 364, 772-774 (2011).
29. Li, H. & Durbin, R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25, 1754-1760 (2009).