Rapid detection of K-, N-, H-RAS, and BRAF hotspot mutations in thyroid cancer using the multiplex primer extension

Clinical Biochemistry

Volumn 46, Issue 15, 2013, Pages 1572-1577

  Chang, Ya Sian ^a   Lin, I Ling ^b   Yeh, Kun Tu ^c   Chang, Jan Gowth ^a,d  

^a CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^b KAOHSIUNG MEDICAL UNIVERSITY   (Taiwan)

^c CHANGHUA CHRISTIAN HOSPITAL   (Taiwan)

^d CHINA MEDICAL UNIVERSITY   (Taiwan)

Author keywords

BRAF gene; Multiplex PCR and primer extension; RAS genes; Thyroid cancer

Indexed keywords

B RAF KINASE;

ADULT; ARTICLE; CODON; DNA EXTRACTION; ENZYME INACTIVATION; EXON; FEMALE; GENE MUTATION; GENETIC CODE; HUMAN; HUMAN TISSUE; INTRON; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATIONAL ANALYSIS; ONCOGENE H RAS; ONCOGENE K RAS; ONCOGENE N RAS; PRIORITY JOURNAL; THYROID CANCER;

BRAF GENE; MULTIPLEX PCR AND PRIMER EXTENSION; RAS GENES; THYROID CANCER;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CARCINOMA; DNA PRIMERS; EXONS; FEMALE; HUMANS; MALE; MIDDLE AGED; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATION; PROTO-ONCOGENE PROTEINS B-RAF; PROTO-ONCOGENE PROTEINS P21(RAS); SEQUENCE ANALYSIS, DNA; THYROID NEOPLASMS; TIME FACTORS;

EID: 84884350600     PISSN: 00099120     EISSN: 18732933     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2013.06.005     Document Type: Article

References (51)

1. Reynolds R.M., Weir J., Stockton D.L., Brewster D.H., Sandeep T.C., Strachan M.W. Changing trends in incidence and mortality of thyroid cancer in Scotland. Clin Endocrinol (Oxf) 2005, 62:156-162.
2. Aschebrook-Kilfoy B., Ward M.H., Sabra M.M., Devesa S.S. Thyroid cancer incidence patterns in the United States by histologic type, 1992-2006. Thyroid 2011, 21:125-134.
3. Sipos J.A., Mazzaferri E.L. Thyroid cancer epidemiology and prognostic variables. Clin Oncol (R Coll Radiol) 2010, 22:395-404.
4. Ain K.B. Anaplastic thyroid carcinoma: behavior, biology, and therapeutic approaches. Thyroid 1998, 8:715-726.
5. Nikiforov Y.E., Nikiforova M.N. Molecular genetics and diagnosis of thyroid cancer. Nat Rev Endocrinol 2011, 7:569-580.
6. Catalano M.G., Fortunati N., Boccuzzi G. Epigenetics modifications and therapeutic prospects in human thyroid cancer. Front Endocrinol (Lausanne) 2012, 3:40.
7. Theoharis C., Roman S., Sosa J.A. The molecular diagnosis and management of thyroid neoplasms. Curr Opin Oncol 2012, 24:35-41.
8. Pylayeva-Gupta Y., Grabocka E., Bar-Sagi D. RAS oncogenes: weaving a tumorigenic web. Nat Rev Cancer 2011, 11:761-774.
9. Downward J. Targeting RAS signalling pathways in cancer therapy. Nat Rev Cancer 2003, 3:11-22.
10. Bos J.L. Ras oncogenes in human cancer: a review. Cancer Res 1989, 49:4682-4689.
11. Lowy D.R., Willumsen B.M. Function and regulation of Ras. Annu Rev Biochem 1993, 62:851-891.
12. Kolch W. Meaningful relationships: the regulation of the Ras/Raf/MEK/ERK pathway by protein interactions. Biochem J 2000, 351(Pt 2):289-305.
13. Roskoski R. RAF protein-serine/threonine kinases: structure and regulation. Biochem Biophys Res Commun 2010, 399:313-317.
14. Osborne J.K., Zaganjor E., Cobb M.H. Signal control through Raf: in sickness and in health. Cell Res 2012, 22:14-22.
15. Vakiani E., Solit D.B. KRAS and BRAF: drug targets and predictive biomarkers. J Pathol 2011, 223:219-229.
16. McCormick F. Cancer therapy based on oncogene addiction. J Surg Oncol 2011, 103:464-467.
17. Santarpia L., Lippman S.M., El-Naggar A.K. Targeting the MAPK-RAS-RAF signaling pathway in cancer therapy. Expert Opin Ther Targets 2012, 16:103-119.
18. Ji Z., Flaherty K.T., Tsao H. Targeting the RAS pathway in melanoma. Trends Mol Med 2012, 18:27-35.
19. Maurer G., Tarkowski B., Baccarini M. Raf kinases in cancer-roles and therapeutic opportunities. Oncogene 2011, 30:3477-3488.
20. Chang Y.S., Yeh K.T., Chang T.J., Chai C., Lu H.C., Hsu N.C., et al. Fast simultaneous detection of K-RAS mutations in colorectal cancer. BMC Cancer 2009, 9:179.
21. Poehlmann A., Kuester D., Meyer F., Lippert H., Roessner A., Schneider-Stock R. K-ras mutation detection in colorectal cancer using the pyrosequencing technique. Pathol Res Pract 2007, 203:489-497.
22. van Heek N.T., Clayton S.J., Sturm P.D., Walker J., Gouma D.J., Noorduyn L.A., et al. Comparison of the novel quantitative arms assay and an enriched PCR-ASO assay for K-ras mutations with conventional cytology on endobiliary brush cytology from 312 consecutive extrahepatic biliary stenoses. J Clin Pathol 2005, 58:1315-1320.
23. Taback B., Bilchik A.J., Saha S., Nakayama T., Wiese D.A., Turner R.R., et al. Peptide nucleic acid clamp PCR: a novel K-ras mutation detection assay for colorectal cancer micrometastases in lymph nodes. Int J Cancer 2004, 111:409-414.
24. McKinzie P.B., Parsons B.L. Detection of rare K-ras codon 12 mutations using allele-specific competitive blocker PCR. Mutat Res 2002, 517:209-220.
25. Jeong D., Jeong Y., Park J.H., Han S.W., Kim S.Y., Kim Y.J., et al. BRAF (V600E) mutation analysis in papillary thyroid carcinomas by peptide nucleic acid clamp real-time PCR. Ann Surg Oncol 2013, 20:759-766.
26. Hsieh L.L., Er T.K., Chen C.C., Hsieh J.S., Chang J.G., Liu T.C. Characteristics and prevalence of KRAS, BRAF, and PIK3CA mutations in colorectal cancer by high-resolution melting analysis in Taiwanese population. Clin Chim Acta 2012, 413:1605-1611.
27. Lin S.Y., Chen P.H., Wang C.K., Liu J.D., Siauw C.P., Chen Y.J., et al. Mutation analysis of K-ras oncogenes in gastroenterologic cancers by the amplified created restriction sites method. Am J Clin Pathol 1993, 100:686-689.
28. Chang Y.S., Yeh K.T., Hsu N.C., Lin S.H., Chang T.J., Chang J.G. Detection of N-, H-, and KRAS codons 12, 13, and 61 mutations with universal RAS primer multiplex PCR and N-, H-, and KRAS-specific primer extension. Clin Biochem 2010, 43:296-301.
29. Davies H., Bignell G.R., Cox C., Stephens P., Edkins S., Clegg S., et al. Mutations of the BRAF gene in human cancer. Nature 2002, 417:949-954.
30. Lemoine N.R., Mayall E.S., Wyllie F.S., Farr C.J., Hughes D., Padua R.A., et al. Activated ras oncogenes in human thyroid cancers. Cancer Res 1988, 48:4459-4463.
31. Suarez H.G., Du Villard J.A., Caillou B., Schlumberger M., Tubiana M., Parmentier C., et al. Detection of activated ras oncogenes in human thyroid carcinomas. Oncogene 1988, 2:403-406.
32. Wright P.A., Lemoine N.R., Mayall E.S., Wyllie F.S., Hughes D., Williams E.D., et al. Papillary and follicular thyroid carcinomas show a different pattern of ras oncogene mutation. Br J Cancer 1989, 60:576-577.
33. Lemoine N.R., Mayall E.S., Wyllie F.S., Williams E.D., Goyns M., Stringer B., et al. High frequency of ras oncogene activation in all stages of human thyroid tumorigenesis. Oncogene 1989, 4:159-164.
34. Namba H., Rubin S.A., Fagin J.A. Point mutations of ras oncogenes are an early event in thyroid tumorigenesis. Mol Endocrinol 1990, 4:1474-1479.
35. Motoi N., Sakamoto A., Yamochi T., Horiuchi H., Motoi T., Machinami R. Role of ras mutation in the progression of thyroid carcinoma of follicular epithelial origin. Pathol Res Pract 2000, 196:1-7.
36. Suarez H.G., du Villard J.A., Severino M., Caillou B., Schlumberger M., Tubiana M., et al. Presence of mutations in all three ras genes in human thyroid tumors. Oncogene 1990, 5:565-570.
37. Said S., Schlumberger M., Suarez H.G. Oncogenes and anti-oncogenes in human epithelial thyroid tumors. J Endocrinol Invest 1994, 17:371-379.
38. Naito H., Pairojkul C., Kitahori Y., Yane K., Miyahara H., Konishi N., et al. Different ras gene mutational frequencies in thyroid papillary carcinomas in Japan and Thailand. Cancer Lett 1998, 131:171-175.
39. Karga H., Lee J.K., Vickery A.L., Thor A., Gaz R.D., Jameson J.L. Ras oncogene mutations in benign and malignant thyroid neoplasms. J Clin Endocrinol Metab 1991, 73:832-836.
40. Pilotti S., Collini P., Mariani L., Placucci M., Bongarzone I., Vigneri P., et al. Insular carcinoma: a distinct de novo entity among follicular carcinomas of the thyroid gland. Am J Surg Pathol 1997, 21:1466-1473.
41. Ciampi R., Mian C., Fugazzola L., Cosci B., Romei C., Barollo S., et al. Evidence of a low prevalence of RAS mutations in a large medullary thyroid cancer series. Thyroid 2013, 23:50-57.
42. Caronia L.M., Phay J.E., Shah M.H. Role of BRAF in thyroid oncogenesis. Clin Cancer Res 2011, 17:7511-7517.
43. Tufano R.P., Teixeira G.V., Bishop J., Carson K.A., Xing M. BRAF mutation in papillary thyroid cancer and its value in tailoring initial treatment: a systematic review and meta-analysis. Medicine (Baltimore) 2012, 91:274-286.
44. Fukushima T., Suzuki S., Mashiko M., Ohtake T., Endo Y., Takebayashi Y., et al. BRAF mutations in papillary carcinomas of the thyroid. Oncogene 2003, 22:6455-6457.
45. Namba H., Nakashima M., Hayashi T., Hayashida N., Maeda S., Rogounovitch T.I., et al. Clinical implication of hot spot BRAF mutation, V599E, in papillary thyroid cancers. J Clin Endocrinol Metab 2003, 88:4393-4397.
46. Cohen Y., Xing M., Mambo E., Guo Z., Wu G., Trink B., et al. BRAF mutation in papillary thyroid carcinoma. J Natl Cancer Inst 2003, 95:625-627.
47. Ito Y., Yoshida H., Maruo R., Morita S., Takano T., Hirokawa M., et al. BRAF mutation in papillary thyroid carcinoma in a Japanese population: its lack of correlation with high-risk clinicopathological features and disease-free survival of patients. Endocr J 2009, 56:89-97.
48. Kim S.J., Lee K.E., Myong J.P., Park J.H., Jeon Y.K., Min H.S., et al. BRAF V600E mutation is associated with tumor aggressiveness in papillary thyroid cancer. World J Surg 2012, 36:310-317.
49. Elisei R., Ugolini C., Viola D., Lupi C., Biagini A., Giannini R., et al. BRAF (V600E) mutation and outcome of patients with papillary thyroid carcinoma: a 15-year median follow-up study. J Clin Endocrinol Metab 2008, 93:3943-3949.
50. Fregel R., Maca-Meyer N., Cabrera V.M., Gonzalez A.M., Larruga J.M. Description of a simple multiplex PCR-SSCP method for AB0 genotyping and its application to the peopling of the Canary Islands. Immunogenetics 2005, 57:572-578.
51. Mahadik C.T. Experience with multiplex ARMS (MARMS)-PCR for the detection of common beta-thalassemia mutations in India. Cardiovasc Hematol Agents Med Chem 2012, 10:14-24.