Mutational analysis of splicing machinery genes SF3B1, U2AF1 and SRSF2 in myelodysplasia and other common tumors

International Journal of Cancer

Volumn 133, Issue 1, 2013, Pages 260-265

  Je, Eun Mi ^a   Yoo, Nam Jin ^a   Kim, Yoo Jin ^a   Kim, Myung Shin ^a   Lee, Sug Hyung ^a  

^a The Catholic University of Korea   (South Korea)

Author keywords

cancer; myelodysplasia; SF3B1; somatic mutation; splicing; SRSF2; U2AF1

Indexed keywords

ACUTE GRANULOCYTIC LEUKEMIA; ACUTE LYMPHOBLASTIC LEUKEMIA; ARTICLE; CARCINOGENESIS; CHILDHOOD LEUKEMIA; CHRONIC MYELOMONOCYTIC LEUKEMIA; CONNECTIVE TISSUE TUMOR; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA SEQUENCE; EPITHELIUM TUMOR; GENE; GENE FUNCTION; HEMATOLOGIC MALIGNANCY; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; MYELODYSPLASTIC SYNDROME; MYELOPROLIFERATIVE DISORDER; OVARY CANCER; PATHOGENESIS; PRIORITY JOURNAL; PROSTATE CANCER; RNA SPLICING; SF3B1 GENE; SINGLE STRAND CONFORMATION POLYMORPHISM; SOLID TUMOR; SRSF2 GENE; STOMACH CANCER; U2AF1 GENE;

ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; DNA MUTATIONAL ANALYSIS; FEMALE; HEMATOLOGIC NEOPLASMS; HUMANS; KOREA; MALE; MIDDLE AGED; MUTATION; MYELODYSPLASTIC SYNDROMES; MYELODYSPLASTIC-MYELOPROLIFERATIVE DISEASES; NEOPLASMS; NEOPLASMS, GLANDULAR AND EPITHELIAL; NUCLEAR PROTEINS; PHOSPHOPROTEINS; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RIBONUCLEOPROTEIN, U2 SMALL NUCLEAR; RIBONUCLEOPROTEINS; RNA SPLICING;

EID: 84876687580     PISSN: 00207136     EISSN: 10970215     Source Type: Journal    
DOI: 10.1002/ijc.28011     Document Type: Article

References (18)

1. Tefferi A, Vardiman JW,. Myelodysplastic syndromes. N Engl J Med 2009; 361: 1872-85.
2. Tefferi A, Thiele J, Vardiman JW,. The 2008 World Health Organization classification system for myeloproliferative neoplasms: order out of chaos. Cancer 2009; 115: 3842-47.
3. Yoshida K, Sanada M, Shiraishi Y, et al. Frequent pathway mutations of splicing machinery in myelodysplasia. Nature 2011; 478: 64-9.
4. Papaemmanuil E, Cazzola M, Boultwood J, et al. Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. N Engl J Med 2011; 365: 1384-95.
5. Graubert TA, Shen D, Ding L, et al. Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes. Nat Genet 2011; 44: 53-7.
6. Malcovati L, Papaemmanuil E, Bowen DT, et al. Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/ myeloproliferative neoplasms. Blood 2011; 118: 6239-46.
7. Quesada V, Conde L, Villamor N, et al. Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia. Nat Genet 2011; 44: 47-52.
8. Stephens PJ, Tarpey PS, Davies H, et al. The landscape of cancer genes and mutational processes in breast cancer. Nature 2012; 486: 400-4.
9. Ellis MJ, Ding L, Shen D, et al. Whole-genome analysis informs breast cancer response to aromatase inhibition. Nature 2012; 486: 353-60.
10. Imielinski M, Berger AH, Hammerman PS, et al. Mapping the hallmarks of lung adenocarcinoma with massively parallel sequencing. Cell 2012; 150: 1107-20.
11. Wahl MC, Will CL, Lührmann R,. The spliceosome: design principles of a dynamic RNP machine. Cell 2009; 136: 701-18.
12. Lee JW, Soung YH, Kim SY, et al. PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas. Oncogene 2005; 24: 1477-80.
13. Kim MS, Hur SY, Yoo NJ, et al. Mutational analysis of FOXL2 codon 134 in granulosa cell tumour of ovary and other human cancers. J Pathol 2010; 221: 147-52.
14. Kim YR, Oh JE, Kim MS, et al. Oncogenic NRF2 mutations in squamous cell carcinomas of oesophagus and skin. J Pathol 2010; 220: 446-51.
15. Jung SW, Lee SY, Jekarl DW, et al. Cytogenetic characteristics and prognosis analysis in 231 myelodysplastic syndrome patients from a single institution. Leuk Res 2011; 35: 735-40.
16. Wakeling AE, Guy SP, Woodburn JR, et al. ZD1839 (Iressa): an orally active inhibitor of epidermal growth factor signaling with potential for cancer therapy. Cancer Res 2002; 62: 5749-54.
17. Kralovics R, Passamonti F, Buser AS, et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 2005; 352: 1779-90.
18. Shah SP, Köbel M, Senz J, et al. Mutation of FOXL2 in granulosa-cell tumors of the ovary. N Engl J Med 2009; 360: 2719-29.