Association of specific PTEN/10q haplotypes with endometrial cancer phenotypes in African-American and European American women

Gynecologic Oncology

Volumn 138, Issue 2, 2015, Pages 434-440

  Sutton, Jazmine ^a,b   Orloff, Mohammed S ^a,b,e   Michener, Chad ^a,b   Chiesa Vottero, Andres ^a   Prayson, Richard ^a,b   Nowacki, Amy S ^a,b   Eng, Charis ^a,b,c,d  

^a LERNER RESEARCH INSTITUTE   (United States)

^b CLEVELAND CLINIC LERNER COLLEGE OF MEDICINE   (United States)

^c TAUSSIG CANCER INSTITUTE   (United States)

^d CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

Author keywords

Disparity; Endometrial cancer; Haplotypes; PTEN

Indexed keywords

PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PTEN PROTEIN, HUMAN;

ADULT; AFRICAN AMERICAN; ARTICLE; CANCER PROGNOSIS; CANCER SUSCEPTIBILITY; CASE CONTROL STUDY; CHROMOSOME 10Q; CONTROLLED STUDY; ENDOMETRIUM CANCER; EUROPEAN AMERICAN; FEMALE; GENE CONSTRUCT; GENE FREQUENCY; GENE SILENCING; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; GENOTYPING TECHNIQUE; GERMLINE MUTATION; HAPLOTYPE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MIDDLE AGED; PHENOTYPE; PHYLOGENETIC TREE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SINGLE NUCLEOTIDE POLYMORPHISM; ALLELE; CAUCASIAN; ENDOMETRIUM TUMOR; ENZYMOLOGY; ETHNOLOGY; GENETIC PREDISPOSITION; GENETICS;

ADULT; AFRICAN AMERICANS; ALLELES; CASE-CONTROL STUDIES; ENDOMETRIAL NEOPLASMS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; MIDDLE AGED; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PTEN PHOSPHOHYDROLASE;

EID: 84938208449     PISSN: 00908258     EISSN: 10956859     Source Type: Journal    
DOI: 10.1016/j.ygyno.2015.05.024     Document Type: Article

References (39)

1. SEER Cancer Statistics Review National Cancer Institute, 2011 1975-2008 (Accessed May 31, 2015, at http://seer.cancer.gov/csr/1975-2008
2. T. Madison, D. Schottenfeld, and V. Baker Cancer of the corpus uteri in white and black women in Michigan, 1985-1994: an analysis of trends in incidence and mortality and their relation to histologic subtype and stage Cancer 83 8 1998 1546 1554
3. J.D. Wright, J. Fiorelli, P.B. Schiff, and et al. Racial disparities for uterine corpus tumors: changes in clinical characteristics and treatment over time Cancer 115 6 2009 1276 1285
4. R.P. Matthews, J. Hutchinson-Colas, M. Maiman, and et al. Papillary serous and clear cell type lead to poor prognosis of endometrial carcinoma in black women Gynecol Oncol 65 2 1997 206 212
5. H.A. Hill, R.J. Coates, H. Austin, and et al. Racial differences in tumor grade among women with endometrial cancer Gynecol Oncol 56 2 1995 154 163
6. T. Madison, D. Schottenfeld, S.A. James, A.G. Schwartz, and S.B. Gruber Endometrial cancer: socioeconomic status and racial/ethnic differences in stage at diagnosis, treatment, and survival Am J Public Health 94 12 2004 2104 2111
7. T.C. Randall, K. Armstrong, Differences in treatment and outcome between African-American and white women with endometrial cancer, J Clin Oncol 21 (22), 4200-4206.
8. J.H. Farley, C. Tian, G.S. Rose, and et al. Chemotherapy intensity and toxicity among black and white women with advanced and recurrent endometrial cancer: a Gynecologic Oncology Group Study Cancer 116 2 2010 355 361
9. G.L. Maxwell, C. Tian, J. Risinger, C.L. Brown, G.S. Rose, J.T. Thigpen, and et al. Racial disparity in survival among patients with advanced/recurrent endometrial adenocarcinoma: a Gynecologic Oncology Group study Cancer 107 9 2006 2197 2205
10. K.A. Waite, and C. Eng Protean PTEN: form and function Am. J. Hum. Genet. 70 4 2002 829 844
11. L. Weng, J. Brown, and C. Eng PTEN induces apoptosis and cell cycle arrest through phosphoinositol-3-kinase/Akt-dependent and -independent pathways Hum. Mol. Genet. 10 3 2001 237 242
12. D.J. Marsh, J.B. Kum, K.L. Lunetta, M.J. Bennett, R.J. Gorlin, S.F. Ahmed, and et al. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome Hum. Mol. Genet. 8 8 1999 1461 1472
13. D. Liaw, D.J. Marsh, J. Li, P.L. Dahia, S.I. Wang, Z. Zheng, and et al. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome Nat. Genet. 16 1 1997 64 67
14. J.I. Risinger, A.K. Hayes, A. Berchuck, and J.C. Barrett PTEN/MMAC1 mutations in endometrial cancers Cancer Res. 57 21 1997 4736 4738
15. X.P. Zhou, K.A. Waite, R. Pilarski, H. Hampel, M.J. Fernandez, C. Bos, and et al. Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway Am. J. Hum. Genet. 73 2 2003 404 411
16. M.H. Tan, J.L. Mester, J. Ngeow, L.A. Rybicki, M.S. Orloff, and C. Eng Lifetime cancer risks in individuals with germline PTEN mutations Clin. Cancer Res. 18 2 2012 400 407
17. H. Tashiro, M.S. Blazes, R. Wu, K.R. Cho, S. Bose, S.I. Wang, and et al. Mutations in PTEN are frequent in endometrial carcinoma but rare in other common gynecological malignancies Cancer Res. 57 18 1997 3935 3940
18. D. Kong, A. Suzuki, T.T. Zou, A. Sakurada, L.W. Kemp, S. Wakatsuki, and et al. PTEN1 is frequently mutated in primary endometrial carcinomas Nat. Genet. 17 2 1997 143 144
19. H.J. Mackay, S. Gallinger, M.S. Tsao, C.M. McLachlin, D. Tu, K. Keiser, and et al. Prognostic value of microsatellite instability (MSI) and PTEN expression in women with endometrial cancer: results from studies of the NCIC Clinical Trials Group (NCIC CTG) Eur. J. Cancer 46 8 2010 1365 1373
20. M.G. Pezzolesi, Y. Li, X.P. Zhou, R. Pilarski, L. Shen, and C. Eng Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes Am. J. Hum. Genet. 79 5 2006 923 934
21. K.L. Bennett, J. Mester, and C. Eng Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome JAMA 304 24 2010 2724 2731
22. E.A. Nizialek, J.L. Mester, V.K. Dhiman, D.J. Smiraglia, and C. Eng KLLN epigenotype-phenotype associations in Cowden syndrome Eur. J. Hum. Genet. 2015 10.1038/ejhg.2015.8
23. L.A. Pikor, K.S. Enfield, H. Cameron, and W.L. Lam DNA extraction from paraffin embedded material for genetic and epigenetic analyses J. Vis. Exp. 49 2011
24. R. Kosoy, R. Nassir, C. Tian, P.A. White, L.M. Butler, G. Silva, and et al. Ancestry informative marker sets for determining continental origin and admixture proportions in common populations in America Hum. Mutat. 30 1 2009 69 78
25. JMP 7th ed. 1989-2007 SAS Institute Cary, NC
26. T. Nguyen-Dumont, F.L. Calvez-Kelm, N. Forey, S. McKay-Chopin, S. Garritano, L. Gioia-Patricola, and et al. Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis Hum. Mutat. 30 6 2009 884 890
27. S. Purcell, B. Neale, K. Todd-Brown, L. Thomas, M.A. Ferreira, D. Bender, and et al. PLINK: a tool set for whole-genome association and population-based linkage analyses Am. J. Hum. Genet. 81 3 2007 559 575
28. M. Stephens, N.J. Smith, and P. Donnelly A new statistical method for haplotype reconstruction from population data Am. J. Hum. Genet. 68 4 2001 978 989
29. G.L. Mutter, M.C. Lin, J.T. Fitzgerald, J.B. Kum, J.P. Baak, J.A. Lees, and et al. Altered PTEN expression as a diagnostic marker for the earliest endometrial precancers J. Natl. Cancer Inst. 92 11 2000 924 930
30. J. Felsenstein PHYLIP - phylogeny inference package (version 3.2) Cladistics 5 1989 164 166
31. G.L. Maxwell, J.I. Risinger, K.A. Hayes, A.A. Alvarez, R.K. Dodge, J.C. Barrett, and et al. Racial disparity in the frequency of PTEN mutations, but not microsatellite instability, in advanced endometrial cancers Clin. Cancer Res. 6 8 2000 2999 3005
32. I. Tachmazidou, C.J. Verzilli, and M. De Iorio Genetic association mapping via evolution-based clustering of haplotypes PLoS Genet. 3 7 2007 e111
33. J. Ding, Y. Gao, R. Liu, F. Xu, and H. Liu Association of PTEN polymorphisms with susceptibility to hepatocellular carcinoma in a Han Chinese population DNA Cell Biol. 30 4 2011 229 234
34. M.L. Slattery, J.S. Herrick, A. Lundgreen, F.A. Fitzpatrick, K. Curtin, and R.K. Wolff Genetic variation in a metabolic signaling pathway and colon and rectal cancer risk: mTOR, PTEN, STK11, RPKAA1, PRKAG2, TSC1, TSC2, PI3K and Akt1 Carcinogenesis 31 9 2010 1604 1611
35. X. Pu, M.A. Hildebrandt, C. Lu, J. Lin, D.J. Stewart, Y. Ye, and et al. PI3K/PTEN/AKT/mTOR pathway genetic variation predicts toxicity and distant progression in lung cancer patients receiving platinum-based chemotherapy Lung Cancer 71 1 2011 82 88
36. M.A. Hildebrandt, H. Yang, M.C. Hung, J.G. Izzo, M. Huang, J. Lin, and et al. Genetic variations in the PI3K/PTEN/AKT/mTOR pathway are associated with clinical outcomes in esophageal cancer patients treated with chemoradiotherapy J. Clin. Oncol. 27 6 2009 857 871
37. S. Agrawal, and C. Eng Differential expression of novel naturally occurring splice variants of PTEN and their functional consequences in Cowden syndrome and sporadic breast cancer Hum. Mol. Genet. 15 5 2006 777 787
38. C.H. Kwon, D. Zhao, J. Chen, S. Alcantara, Y. Li, D.K. Burns, and et al. Pten haploinsufficiency accelerates formation of high-grade astrocytomas Cancer Res. 68 9 2008 3286 3294
39. M. Stephens, and P. Donnelly A comparison of Bayesian methods for haplotype reconstruction from population genotype data Am. J. Hum. Genet. 73 5 2003 1162 1169