Distinct gene expression profiles in ovarian cancer linked to Lynch syndrome

Familial Cancer

Volumn 13, Issue 4, 2014, Pages 537-545

  Jönsson, Jenny Maria ^a   Bartuma, Katarina ^a   Dominguez Valentin, Mev ^a   Harbst, Katja ^a,b   Ketabi, Zohreh ^c   Malander, Susanne ^a   Jönsson, Mats ^a   Carneiro, Ana ^a   Måsbäck, Anna ^a   Jönsson, Göran ^a,b   Nilbert, Mef ^a,c  

^a LUND UNIVERSITY HOSPITAL   (Sweden)

^b LUND UNIVERSITY   (Sweden)

^c UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

Candidate genes; DASL; Gene expression profiles; HNPCC

Indexed keywords

TRANSCRIPTOME;

ADULT; AGED; CLUSTER ANALYSIS; COMPLICATION; DNA MICROARRAY; FEMALE; GENETICS; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; IMMUNOHISTOCHEMISTRY; MIDDLE AGED; OVARY TUMOR;

ADULT; AGED; CLUSTER ANALYSIS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; MIDDLE AGED; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; OVARIAN NEOPLASMS; TRANSCRIPTOME;

EID: 84937512186     PISSN: 13899600     EISSN: 15737292     Source Type: Journal    
DOI: 10.1007/s10689-014-9728-1     Document Type: Article

References (39)

1. Malander S, Ridderheim M, Masback A, Loman N, Kristoffersson U, Olsson H, Nilbert M, Borg A (2004) One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations: results of a prospective study in Southern Sweden. Eur J Cancer 40(3):422–428
2. Rubin SC, Blackwood MA, Bandera C, Behbakht K, Benjamin I, Rebbeck TR, Boyd J (1998) BRCA1, BRCA2, and hereditary nonpolyposis colorectal cancer gene mutations in an unselected ovarian cancer population: relationship to family history and implications for genetic testing. Am J Obstet Gynecol 178(4):670–677
3. Malander S, Rambech E, Kristoffersson U, Halvarsson B, Ridderheim M, Borg A, Nilbert M (2006) The contribution of the hereditary nonpolyposis colorectal cancer syndrome to the development of ovarian cancer. Gynecol Oncol 101(2):238–243. doi:10.1016/j.ygyno.2005.10.029
4. Pal T, Permuth-Wey J, Kumar A, Sellers TA (2008) Systematic review and meta-analysis of ovarian cancers: estimation of microsatellite-high frequency and characterization of mismatch repair deficient tumor histology. Clin Cancer Res 14(21):6847–6854. doi:10.1158/1078-0432.CCR-08-1387
5. Vasen HF, Stormorken A, Menko FH, Nagengast FM, Kleibeuker JH, Griffioen G, Taal BG, Moller P, Wijnen JT (2001) MSH2 mutation carriers are at higher risk of cancer than MLH1 mutation carriers: a study of hereditary nonpolyposis colorectal cancer families. J Clin Oncol 19(20):4074–4080
6. Grindedal EM, Renkonen-Sinisalo L, Vasen H, Evans G, Sala P, Blanco I, Gronwald J, Apold J, Eccles DM, Sanchez AA, Sampson J, Jarvinen HJ, Bertario L, Crawford GC, Stormorken AT, Maehle L, Moller P (2010) Survival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindreds. J Med Genet 47(2):99–102. doi:10.1136/jmg.2009.068130
7. Crijnen TE, Janssen-Heijnen ML, Gelderblom H, Morreau J, Nooij MA, Kenter GG, Vasen HF (2005) Survival of patients with ovarian cancer due to a mismatch repair defect. Fam Cancer 4(4):301–305. doi:10.1007/s10689-005-6573-2
8. Watson P, Vasen HF, Mecklin JP, Bernstein I, Aarnio M, Jarvinen HJ, Myrhoj T, Sunde L, Wijnen JT, Lynch HT (2008) The risk of extra-colonic, extra-endometrial cancer in the Lynch syndrome. Int J Cancer 123(2):444–449. doi:10.1002/ijc.23508
9. Aarnio M, Sankila R, Pukkala E, Salovaara R, Aaltonen LA, de la Chapelle A, Peltomaki P, Mecklin JP, Jarvinen HJ (1999) Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 81(2):214–218. doi:10.1002/(SICI)1097-0215(19990412)81:2<214:AID-IJC8>3.0.CO;2-L
10. Kurman RJ, Shih Ie M (2010) The origin and pathogenesis of epithelial ovarian cancer: a proposed unifying theory. Am J Surg Pathol 34(3):433–443. doi:10.1097/PAS.0b013e3181cf3d79
11. Singer G, Stohr R, Cope L, Dehari R, Hartmann A, Cao DF, Wang TL, Kurman RJ, Shih Ie M (2005) Patterns of p53 mutations separate ovarian serous borderline tumors and low- and high-grade carcinomas and provide support for a new model of ovarian carcinogenesis: a mutational analysis with immunohistochemical correlation. Am J Surg Pathol 29(2):218–224
12. Cho KR, Shih Ie M (2009) Ovarian cancer. Annu Rev Pathol 4:287–313. doi:10.1146/annurev.pathol.4.110807.092246
13. Kurman RJ, Shih Ie M (2008) Pathogenesis of ovarian cancer: lessons from morphology and molecular biology and their clinical implications. Int J Gynecol Pathol 27(2):151–160. doi:10.1097/PGP.0b013e318161e4f5
14. Tothill RW, Tinker AV, George J, Brown R, Fox SB, Lade S, Johnson DS, Trivett MK, Etemadmoghadam D, Locandro B, Traficante N, Fereday S, Hung JA, Chiew YE, Haviv I, Gertig D, DeFazio A, Bowtell DD (2008) Novel molecular subtypes of serous and endometrioid ovarian cancer linked to clinical outcome. Clin Cancer Res 14(16):5198–5208. doi:10.1158/1078-0432.CCR-08-0196
15. Marquez RT, Baggerly KA, Patterson AP, Liu J, Broaddus R, Frumovitz M, Atkinson EN, Smith DI, Hartmann L, Fishman D, Berchuck A, Whitaker R, Gershenson DM, Mills GB, Bast RC Jr, Lu KH (2005) Patterns of gene expression in different histotypes of epithelial ovarian cancer correlate with those in normal fallopian tube, endometrium, and colon. Clin Cancer Res 11(17):6116–6126. doi:10.1158/1078-0432.CCR-04-2509
16. Silverberg SG (2000) Histopathologic grading of ovarian carcinoma: a review and proposal. Int J Gynecol Pathol 19(1):7–15
17. Tavassoli FA, Devilee P (2003) Pathology and genetics of tumours of the breast and female genital organs. World Health Organization classification of tumours. IARC Press, Lyon
18. Zaino RJ, Kurman RJ, Diana KL, Morrow CP (1995) The utility of the revised International Federation of Gynecology and Obstetrics histologic grading of endometrial adenocarcinoma using a defined nuclear grading system. A Gynecologic Oncology Group study. Cancer 75(1):81–86
19. Ketabi Z, Bartuma K, Bernstein I, Malander S, Gronberg H, Bjorck E, Holck S, Nilbert M (2011) Ovarian cancer linked to Lynch syndrome typically presents as early-onset, non-serous epithelial tumors. Gynecol Oncol. doi:10.1016/j.ygyno.2011.02.010
20. Saeed AI, Sharov V, White J, Li J, Liang W, Bhagabati N, Braisted J, Klapa M, Currier T, Thiagarajan M, Sturn A, Snuffin M, Rezantsev A, Popov D, Ryltsov A, Kostukovich E, Borisovsky I, Liu Z, Vinsavich A, Trush V, Quackenbush J (2003) TM4: a free, open-source system for microarray data management and analysis. Biotechniques 34(2):374–378
21. Tusher VG, Tibshirani R, Chu G (2001) Significance analysis of microarrays applied to the ionizing radiation response. Proc Natl Acad Sci USA 98(9):5116–5121. doi:10.1073/pnas.091062498
22. Edgar R, Domrachev M, Lash AE (2002) Gene Expression Omnibus: NCBI gene expression and hybridization array data repository. Nucleic Acids Res 30(1):207–210
23. Altomare DA, Wang HQ, Skele KL, De Rienzo A, Klein-Szanto AJ, Godwin AK, Testa JR (2004) AKT and mTOR phosphorylation is frequently detected in ovarian cancer and can be targeted to disrupt ovarian tumor cell growth. Oncogene 23(34):5853–5857. doi:10.1038/sj.onc.1207721
24. Kurose K, Zhou XP, Araki T, Cannistra SA, Maher ER, Eng C (2001) Frequent loss of PTEN expression is linked to elevated phosphorylated Akt levels, but not associated with p27 and cyclin D1 expression, in primary epithelial ovarian carcinomas. Am J Pathol 158(6):2097–2106. doi:10.1016/S0002-9440(10)64681-0
25. Skirnisdottir I, Seidal T, Sorbe B (2004) A new prognostic model comprising p53, EGFR, and tumor grade in early stage epithelial ovarian carcinoma and avoiding the problem of inaccurate surgical staging. Int J Gynecol Cancer 14(2):259–270. doi:10.1111/j.1048-891X.2004.014209.x
26. Julien SG, Dube N, Hardy S, Tremblay ML (2011) Inside the human cancer tyrosine phosphatome. Nat Rev Cancer 11(1):35–49. doi:10.1038/nrc2980
27. Rossi D, Fangazio M, Rasi S, Vaisitti T, Monti S, Cresta S, Chiaretti S, Del Giudice I, Fabbri G, Bruscaggin A, Spina V, Deambrogi C, Marinelli M, Fama R, Greco M, Daniele G, Forconi F, Gattei V, Bertoni F, Deaglio S, Pasqualucci L, Guarini A, Dalla-Favera R, Foa R, Gaidano G (2012) Disruption of BIRC3 associates with fludarabine chemorefractoriness in TP53 wild-type chronic lymphocytic leukemia. Blood 119(12):2854–2862. doi:10.1182/blood-2011-12-395673
28. Hanker LC, Karn T, Holtrich U, Graeser M, Becker S, Reinhard J, Ruckhaberle E, Gevensleben H, Rody A (2013) Prognostic impact of fascin-1 (FSCN1) in epithelial ovarian cancer. Anticancer Res 33(2):371–377
29. Tan DS, Iravani M, McCluggage WG, Lambros MB, Milanezi F, Mackay A, Gourley C, Geyer FC, Vatcheva R, Millar J, Thomas K, Natrajan R, Savage K, Fenwick K, Williams A, Jameson C, El-Bahrawy M, Gore ME, Gabra H, Kaye SB, Ashworth A, Reis-Filho JS (2011) Genomic analysis reveals the molecular heterogeneity of ovarian clear cell carcinomas. Clin Cancer Res 17(6):1521–1534. doi:10.1158/1078-0432.CCR-10-1688
30. Singer G, Oldt R 3rd, Cohen Y, Wang BG, Sidransky D, Kurman RJ, Shih Ie M (2003) Mutations in BRAF and KRAS characterize the development of low-grade ovarian serous carcinoma. J Natl Cancer Inst 95(6):484–486
31. Hsu CY, Bristow R, Cha MS, Wang BG, Ho CL, Kurman RJ, Wang TL, Shih Ie M (2004) Characterization of active mitogen-activated protein kinase in ovarian serous carcinomas. Clin Cancer Res 10(19):6432–6436. doi:10.1158/1078-0432.CCR-04-0893
32. Sivaraman VS, Wang H, Nuovo GJ, Malbon CC (1997) Hyperexpression of mitogen-activated protein kinase in human breast cancer. J Clin Invest 99(7):1478–1483. doi:10.1172/JCI119309
33. Allen LF, Sebolt-Leopold J, Meyer MB (2003) CI-1040 (PD184352), a targeted signal transduction inhibitor of MEK (MAPKK). Semin Oncol 30(5 Suppl 16):105–116
34. Peyssonnaux C, Eychene A (2001) The Raf/MEK/ERK pathway: new concepts of activation. Biol Cell 93(1–2):53–62
35. The Cancer Genome Atalas Network (2011) Integrated genomic analyses of ovarian carcinoma. Nature 474(7353):609–615. doi:10.1038/nature10166
36. Bjornsti MA, Houghton PJ (2004) The TOR pathway: a target for cancer therapy. Nat Rev Cancer 4(5):335–348. doi:10.1038/nrc1362
37. Mamane Y, Petroulakis E, LeBacquer O, Sonenberg N (2006) mTOR, translation initiation and cancer. Oncogene 25(48):6416–6422. doi:10.1038/sj.onc.1209888
38. Ekstrand AI, Jonsson M, Lindblom A, Borg A, Nilbert M (2010) Frequent alterations of the PI3K/AKT/mTOR pathways in hereditary nonpolyposis colorectal cancer. Fam Cancer 9(2):125–129. doi:10.1007/s10689-009-9293-1
39. Niskakoski A, Kaur S, Renkonen-Sinisalo L, Lassus H, Järvinen HJ, Mecklin JP, Bützow R, Peltomäki P. Distinct molecular profiles in Lynch syndrome-associated and sporadic ovarian carcinomas. Int J Cancer. doi:10.1002/ijc.28287