Molecular characterization of serous ovarian carcinoma using a multigene next generation sequencing cancer panel approach

BMC Research Notes

Volumn 7, Issue 1, 2014, Pages

  Mutalib, Nurul Syakima Ab ^a   Syafruddin, Saiful Effendi ^a   Zain, Reena Rahayu Md ^b   Dali, Ahmad Zailani Hatta Mohd ^b   Yunos, Ryia Illani Mohd ^a   Saidin, Sazuita ^a   Jamal, Rahman ^a   Mokhtar, Norfilza M ^a,b  

^a UNIVERSITI KEBANGSAAN MALAYSIA   (Malaysia)

^b DEPARTMENT OF PHARMACOLOGY   (Malaysia)

Author keywords

Ion AmpliSeq Cancer Hotspot Panel; Next generation sequencing; Personal Genome Machine (PGM ); Serous ovarian cancer

Indexed keywords

EID: 84988938855     PISSN: None     EISSN: 17560500     Source Type: Journal    
DOI: 10.1186/1756-0500-7-805     Document Type: Article

References (30)

1. McCourt CM, McArt DG, Mills K, Catherwood MA, Maxwell P, Waugh DJ, Hamilton P, O'Sullivan JM, Salto-Tellez M: Validation of next generation sequencing technologies in comparison to current diagnostic gold standards for BRAF. EGFR and KRAS mutational analysis. PLoS One 2013, 8:e69604.
2. Sanger F, Nicklen S, Coulson AR: DNA sequencing with chain terminating inhibitors. Proc Natl Acad Sci U S A 1977, 74:5463-5467.
3. Meldrum C, Doyle MA, Tothill RW: Next-generation sequencing for cancer diagnostics: A practical perspective. Clin Biochem Rev 2011, 32:177-195.
4. Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, Nayir A, Bakkaloǧlu A, Ozen S, Sanjad S, Nelson-Williams C, Farhi A, Mane S, Lifton RP: Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A 2009, 106:19096-19101.
5. Zainal Ariffin O, Nor Saleha IT: NCR Report 2007. Malaysia: Ministry of Health; 2011.
6. Ferlay J, Soerjomataram I, Ervik M, Dikshit R, Eser S, Mathers C, Rebelo M, Parkin DM, Forman D, Bray F: GLOBOCAN 2012 v1.0, Cancer Incidence and Mortality Worldwide: IARC Cancer Base No. 11 [Internet]. Lyon, France: International Agency for Research on Cancer; 2013. Available from: http://globocan.iarc.fr, accessed on 1/February/2014.
7. Ayhan A, Kurman RJ, Yemelyanova A, Vang R, Logani S, Seidman JD, Shih IM: Defining the cut point between low-grade and high-grade ovarian serous carcinomas: A clinicopathologic and molecular genetic analysis. Am J Surg Pathol 2009, 33:1220-1224.
8. Vang R, Shih IM, Kurman RJ: Ovarian low-grade and high-grade serous carcinoma: pathogenesis, clinicopathologic and molecular biologic features, and diagnostic problems. Adv Anat Pathol 2009, 16:267-282.
9. Gershenson DM, Sun CC, Lu KH, Coleman RL, Sood AK, Malpica A, Deavers MT, Silva EG, Bodurka DC: Clinical behavior of stage II-IV low-grade serous carcinoma of the ovary. Obstet Gynecol 2006, 108:361-368.
10. Malpica A, Deavers MT, Lu K, Bodurka DC, Atkinson EN, Gershenson DM, Silva EG: Grading ovarian serous carcinoma using a two-Tier system. Am J Surg Pathol 2004, 28:496-504.
11. Diaz-Padilla I, Malpica AL, Minig L, Chiva LM, Gershenson DM, Gonzalez-Martin A: Ovarian low-grade serous carcinoma: A comprehensive update. Gynecol Oncol 2012, 126:279-285.
12. Singer G, Oldt R 3rd, Cohen Y, Wang BG, Sidransky D, Kurman RJ, Shih IM: Mutations in BRAF and KRAS characterize the development of low-grade ovarian serous carcinoma. J Natl Cancer Inst 2003, 95:484-486.
13. Sieben NL, Macropoulos P, Roemen GM, Kolkman-Uljee SM, Jan Fleuren G, Houmadi R, Diss T, Warren B, Al Adnani M, De Goeij AP, Krausz T, Flanagan AM: In ovarian neoplasms, BRAF, but not KRAS, mutations are restricted to low-grade serous tumours. J Pathol 2004, 202:336-340.
14. Mayr D, Hirschmann A, Lohrs U, Diebold J: KRAS and BRAF mutations in ovarian tumors: A comprehensive study of invasive carcinomas, borderline tumors and extraovarian implants. Gynecol Oncol 2006, 103:883-887.
15. Salani R, Kurman RJ, Giuntoli R 2nd, Gardner G, Bristow R, Wang TL, Shih IM: Assessment of TP53 mutation using purified tissue samples of ovarian serous carcinomas reveals a higher mutation rate than previously reported and does not correlate with drug resistance. Int J Gynecol Cancer 2008, 18:487-491.
16. Kuo KT, Guan B, Feng Y, Mao TL, Chen X, Jinawath N, Wang Y, Kurman RJ, Shih IM, Wang TL: Analysis of DNA copy number alterations in ovarian serous tumors identifies new molecular genetic changes in low-grade and high-grade carcinomas. Cancer Res 2009, 69:4036-4042.
17. Ahmed AA, Etemadmoghadam D, Temple J, Lynch AG, Riad M, Sharma R, Stewart C, Fereday S, Caldas C, Defazio A, Bowtell D, Brenton JD: Driver mutations in TP53 are ubiquitous in high grade serous carcinoma of the ovary. J Pathol 2010, 221:49-56.
18. Tsang YT, Deavers MT, Sun CC, Kwan SY, Kuo E, Malpica A, Mok SS, Gershenson DM, Wong KK: KRAS (but not BRAF) mutations in ovarian serous borderline tumor are associated with recurrent low-grade serous carcinoma. J Pathol 2013, 231:449-456.
19. Robinson JT, Thorvaldsdóttir H, Winckler W, Guttman M, Lander ES, Getz G, Mesirov JP: Integrative genomics viewer. Nat Biotechnol 2011, 29:24-26.
20. Zhang J, Baran J, Cros A, Guberman JM, Haider S, Hsu J, Liang Y, Rivkin E, Wang J, Whitty B, Wong-Erasmus M, Yao L, Kasprzyk A: International Cancer Genome Consortium Data Portal-A one-stop shop for cancer genomics data. Database (Oxford) 2011, bar026.
21. Greenman C, Stephens P, Smith R, Dalgliesh GL, Hunter C, Bignell G, Davies H, Teague J, Butler A, Stevens C, Edkins S, O'Meara S, Vastrik I, Schmidt EE, Avis T, Barthorpe S, Bhamra G, Buck G, Choudhury B, Clements J, Cole J, Dicks E, Forbes S, Gray K, Halliday K, Harrison R, Hills K, Hinton J, Jenkinson A, Jones D, et al: Patterns of somatic mutation in human cancer genomes. Nature 2007, 446:153-158.
22. Rubin AF, Green P: Mutation patterns in cancer genomes. Proc Natl Acad Sci U S A 2009, 106:21766-21770.
23. Brosh R, Rotter V: When mutants gain new powers: news from the mutant p53 field. Nat Rev Cancer 2009, 9:701-713.
24. Marks JR, Davidoff AM, Kerns BJ, Humphrey PA, Pence JC, Dodge RK, Clarke-Pearson DL, Iglehart JD, Bast RC Jr, Berchuck A: Overexpression and mutation of p53 in epithelial ovarian cancer. Cancer Res 1991, 51:2979-2984.
25. Kang HJ, Chun SM, Kim KR, Sohn I, Sung CO: Clinical relevance of gain-of-function mutations of p53 in high-grade serous ovarian carcinoma. PLoS One 2013, 8:e72609.
26. Rivlin N, Brosh R, Oren M, Rotter V: Mutations in the p53 Tumor Suppressor Gene: Important Milestones at the Various Steps of Tumorigenesis. Genes Cancer 2011, 2:466-474.
27. Oren M, Rotter V: Mutant p53 gain-of-function in cancer. Cold Spring Harb Perspect Biol 2010, 2:a001107.
28. Liu G, McDonnell TJ, Montes de Oca Luna R, Kapoor M, Mims B, El-Naggar AK, Lozano G: High metastatic potential in mice inheriting a targeted p53 missense mutation. Proc Natl Acad Sci U S A 2000, 97:4174-4179.
29. Morton JP, Timpson P, Karim SA, Ridgway RA, Athineos D, Doyle B, Jamieson NB, Oien KA, Lowy AM, Brunton VG, Frame MC, Evans TR, Sansom OJ: Mutant p53 drives metastasis and overcomes growth arrest/senescence in pancreatic cancer. Proc Natl Acad Sci U S A 2010, 107:246-251.
30. Cancer Genome Atlas Research Network: Integrated genomic analyses of ovarian carcinoma. Nature 2011, 474:609-615.