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Journal of Medical Biochemistry
2019, vol. 38, br. 1, str. 13-21
Nove veze između varijante BRCA1 c.181 t>g (rs28897672) i rizika od karcinoma jajnika kod saudijskih žena
Alyahr Noraa, Abdi Sabaa, Khan Wajahatullahb, Elrobh Mohameda, Addar Mohammed H.c, Babay Zeneb A.c, Alanaz Mohameda, Aldaihan Sooada, Shaik Jilanid, Arafah Mahae, Reddy-Parine Narasimhad, Warsy Arjumandf
aKing Saud University, College of Science, Department of Biochemistry, Riyadh, Saudi Arabia
bKing Saud Bin Abdul Aziz University for Health Sciences, College of Science and Health Professions, Department of Basic Sciences, Riyadh, Saudi Arabia
cKing Saud University, College of Medicine, Department of Obs/Gyn, Riyadh, Saudi Arabia
dKing Saud University, College of Science, Department of Biochemistry, Genome Research Chair, Riyadh, Saudi Arabia
eKing Saud University, College of Medicine, Department of Pathology, Riyadh, Saudi Arabia
fKing Saud University, Center for Science and Medical Studies for Girls, Central Laboratory, Riyadh, Saudi Arabia
Ključne reči: karcinom jajnika; BRCA1; polimorfizam; Saudijska Arabija; c.181 T> G
Sažetak
Uvod: Mutacije u genu BRCA1 dovedene su u vezu s karcinomom jajnika i kod žena sa visokim rizikom može se vršiti testiranje BRCA. Ova studija osmišljena je s namerom da se odredi učestalost tri varijante polimorfizama pojedinačnih nukleotida (SNP) u genu BRCA1 i ekspresija BRCA1 kod Saudijki sa karcinomom jajnika. Metode: Nivoi ekspresije mRNK gena BRCA1 proučavani su u 10 uzoraka tkiva s karcinomom jajnika i 10 zdravih tkiva jajnika pomoću kvantitativne reakcije lanca polimeraze u realnom vremenu (qPCR). Ova studija je takođe obuhvatila 28 žena koje su imale karcinom jajnika i bile uspešno operisane i 90 zdravih žena bez istorije karcinoma. Uzorci krvi uzeti su u EDTA epruvete i korišćeni za ekstrahovanje DNK. Genotipizacija je izvršena pomoću seta Taqman® SNP Genotyping putem RT-PCR. Varijante uključene u istragu bile su c.871 T> C (rs799917), c.1040 G > A (rs4986852), c.181 T> G (rs28897672) u genu BRCA1. Rezultati: Varijanta c.181 T> G (rs28897672) pokazala je značajno različite učestalosti genotipova alela između pacijenata i kontrolnih subjekata (p = 0,002, odnosno 0,02). Genotip TG imao je značajnu protektivnu ulogu (OR = 0,36, p = 0,024). Pokazalo se da je ekspresija mRNK gena BRCA1 bila niska u tkivima s karcinomom jajnika. Zaključak: Ova studija je pokazala da je c.181 T> G u genima BRCA1 povezan s razvojem karcinoma jajnika kod saudijskih žena. Potrebne su nove studije kako bi se otkrilo koji bi još polimorfizmi (SNP) mogli biti povezani s karcinomom jajnika i kako bi se razumeli mehanizmi uključeni u smanjenje ekspresije gena BRCA1 u tkivima s karcinomom jajnika.
Reference

*** (2007) Cancer incidence and survival report Saudi Arabia

Al-Moundhri, M.S., Al-Ansari, A., Al-Mawali, K., Al-Bahrani, B. (2013) BRCA1 gene molecular alterations in Omani breast cancer patients. Gulf J Oncolog, 1(14): 45-51

Bohra, U. (2012) Recent advances in management of epithelial ovarian cancer. Apollo Medicine, 9(3): 212-218

3

Cannistra, S.A. (2004) Cancer of the ovary. New England Journal of Medicine, 351(24): 2519-2529

Carter, R.F. (2001) BRCA1, BRCA2 and breast cancer: A concise clinical review. Clin Invest Med, 24: 147-57

Chan, K.Y., Ozcelik, H., Cheung, A.N., Ngan, H.Y., Khoo, U.S. (2002) Epigenetic factors controlling the BRCA1 and BRCA2 genes in sporadic ovarian cancer. Cancer Res, 62: 4151-6

Chang, J.S., Yeh, R.-.F., Wiencke, J.K., Wiemels, J.L., Smirnov, I., Pico, A.R., Tihan, T., Patoka, J., Miike, R., Sison, J.D., Rice, T., Wrensch, M.R. (2008) Pathway analysis of single-nucleotide polymorphisms potentially associated with glioblastoma multiforme susceptibility using random forests. Cancer Epidemiology Biomarkers & Prevention, 17(6): 1368-1373

Chen, S., Iversen, E.S., Friebel, T., Finkelstein, D., Weber, B.L., Eisen, A., Peterson, L.E., Schildkraut, J.M., Isaacs, C., Peshkin, B.N., Corio, C., Leondaridis, L., Tomlinson, G., Dutson, D., Kerber, R. (2006) Characterization of BRCA1 and BRCA2 mutations in a large United States sample. Journal of Clinical Oncology, 24(6): 863-871

Chen, Y., Zheng, T., Lan, Q., Kim, C., Qin, Q., Foss, F., Chen, X., Holford, T., Leaderer, B., Boyle, P., Wang, C., Dai, M., Liu, Z., Ma, S., Chanock, S.J., Rothman, N., Zhang, Y. (2013) Polymorphisms in DNA repair pathway genes, body mass index, and risk of non-Hodgkin lymphoma. American Journal of Hematology, 88(7): 606-611

Cherbal, F.R., Adaneb, S., Boualgac, K., Benaispont, G., Maillet, P. (2010) BRCA1 and BRCA2 germline mutations screening in Algerian breast/ovarian cancer families. Dis Markers, 28: 377-84

Ferlay, J., Soerjomataram, I., Ervik, M., et al. (2013) GLOBOCAN 2012 v1.0: Cancer incidence and mortality worldwide. u: IARC CancerBase No. 11, Lyon: International Agency for Research on Cancer, http://globocan.iarc.fr

Garcia, M., Jemal, A., Ward, E.M., Center, M.M., Hao, Y., Siegel, R.L., Thun, M.J. (2007) Global cancer facts & figures. Atlanta, Geo: American Cancer Society

Górski, B., Byrski, T., Huzarski, T., Jakubowska, A., Menkiszak, J., Gronwald, J., Płużańska, A., Bębenek, M., Fischer-Maliszewska, Ł., Grzybowska, E., Narod, S.A., Lubiński, J. (2000) Founder Mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. American Journal of Human Genetics, 66(6): 1963-1968

Gutierrez-Malacatt, H., Ayala-Sanchez, M., Aquino-Ortega, X., Dominguez-Rodriguez, J., Martinez-Tovar, A., Olarte-Carrillo, I., Martinez-Hernandez, A., Cecilia, C.C., Orozco, L., Cordova, E.J. (2016) The rs61764370 functional variant in the KRAS oncogene is associated with chronic myeloid leukemia risk in women. Asian Pacific Journal of Cancer Prevention, 17(4): 2265-2270

Hasan, T.N., Shafi, G., Syed, N.A., Alsaif, M.A., Alsaif, A.A., Alshatwi, A.A. (2013) Lack of association of BRCA1 and BRCA2 variants with breast cancer in an ethnic population of Saudi Arabia, an emerging high-risk area. Asian Pacific Journal of Cancer Prevention, 14(10): 5671-5674

Hennessy, B.T., Coleman, R.L., Markman, M. (2009) Ovarian cancer. Lancet, 374(9698): 1371-1382

Hilton, J.L., Geisler, J.P., Rathe, J.A., et al. (2012) Inactivation of BRCA1 and BRCA2 in ovarian cancer. J Natl Cancer Inst, 18: 1396-406

Hilton, J.L., Geisler, J.P., Rathe, J.A., Hattermann-Zogg, M.A., Deybung, B., Buller, R.E. (2002) Inactivation of BRCA1 and BRCA2 in ovarian cancer. Cancer Spectrum Knowledge Environment, 94(18): 1396-1406

Huo, X., Lu, C., Huang, X., Hu, Z., Jin, G., Ma, H.G., Wang, X., Qin, J., Wang, X., Shen, H., Tang, J. (2009) Polymorphisms in BRCA1, BRCA1-interacting genes and susceptibility of breast cancer in Chinese women. Journal of Cancer Research and Clinical Oncology, 135(11): 1569-1575

Janavičius, R. (2010) Founder BRCA1/2 mutations in the Europe: Implications for hereditary breast-ovarian cancer prevention and control. EPMA Journal, 1(3): 397-412

2

Lippi, G., Chiozza, L., Mattiuzzi, C., Plebani, M. (2017) Patient and sample identification: Out of the maze?. Journal of Medical Biochemistry, vol. 36, br. 2, str. 107-112

Ma, J., Liu, M., Zhang, X., Buri, G. (2015) Correlation analysis of sporadic breast cancer and BRCA1 gene polymorphisms in the Han Nationality and the Mongol Nationality of Inner Mongolia Region. Zhonghua Yi Xue Za Zhi, 95(46): 3746-9

Matloff, E.T. (2000) The breast surgeon's role in BRCA1 and BRCA2 testing. American Journal of Surgery, 180(4): 294-298

McCoy, M.L., Mueller, C.R., Roskelley, C.D. (2003) The role of the breast cancer susceptibility gene 1 (BRCA 1) in sporadic epithelial ovarian cancer. Reprod Biol Endocrinol, 1: 72

Packer, B.P., Yeager, M., Burdett, L., Welch, R., Beerman, M., Qi, L., et al. (2006) SNP 500 cancer: A public resource for sequence validation, assay development, and frequency analysis for genetic variation in candidate genes. Nucleic Acids Research, 34(90001): D617-D621; Database issue

Pal, T., Permuth-Wey, J., Betts, J.A., et al. (2005) BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases. Cancer, 104: 2807-16

Qin, T.T., Chen, T., Zhang, Q., Du, H., Shu, Y., Luo, K., Zhu, L. (2014) Association between BRCA1 rs799917 polymorphism and breast cancer risk: A meta-analysis of 19,878 subjects. Biomedicine & Pharmacotherapy, 68(7): 905-910

Quinn, J.E., James, C.R., Stewart, G.E., Mulligan, J.M., White, P., Chang, G.K.F., Mullan, P.B., Johnston, P.G., Wilson, R.H., Harkin, D.P. (2007) BRCA1 mRNA expression levels predict for overall survival in ovarian cancer after chemotherapy. Clinical Cancer Research, 13(24): 7413-7420

Risch, H.A., McLaughlin, J.R., Cole, D.E.C., Rosen, B., Bradley, L., Fan, I., Tang, J., Li, S., Zhang, S., Shaw, P.A., Narod, S.A. (2006) Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: A kin-cohort study in Ontario, Canada. JNCI: Journal of the National Cancer Institute, 98(23): 1694-1706

Romanowicz, H., Strapagiel, D., Slomka, M., Sobalska-Kwapis, M., Kepka, E., Siewierska-Gorska, A., Zadrozny, M., Smolarz, B. (2016) New single nucleotide polymorphisms (SNPs) in homologous recombination repair genes detected by microarray analysis in Polish breast cancer patients. u: Clinical and Experimental Medicine, Nov 30

Tazzite, A., Jouhadi, H., Nadifi, S., Aretini, P., Falaschi, E., Collavoli, A., Benider, A., Caligo, M.A. (2012) BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: Novel mutations and unclassified variants. Gynecologic Oncology, 125(3): 687-692

Thrall, M., Gallion, H.H., Kryscio, R., Kapali, M., Armstrong, D.K., Deloia, J.A. (2006) BRCA1 expression in a large series of sporadic ovarian carcinomas: A gynecologic oncology group study. International Journal of Gynecologic Cancer, 16(Suppl 1): 166-171

Tian, C.Q., Darcy, K.M., Krivak, T.C., Deloia, J.A., Armstrong, D., Davis, W., Zhao, H., Moysich, K., Ambrosone, C.B. (2013) Assessment of the prognostic value of two common variants of BRCA1 and BRCA2 genes in ovarian cancer patients treated with cisplatin and paclitaxel: A gynecologic oncology group study. Frontiers in Oncology, 3: 206-206

Turner, N., Tutt, A., Ashworth, A. (2004) Hallmarks of 'BRCAness' in sporadic cancers. Nature Reviews Cancer, 4(10): 814-819

Wang, C., Horiuchi, M.A., Imai, T., Ohira, S., Itoh, K., Nikaido, T., Katsuyama, Y., Konishi, I. (2004) Expression of BRCA1 protein in benign, borderline, and malignant epithelial ovarian neoplasms and its relationship to methylation and allelic loss of theBRCA1 gene. Journal of Pathology, 202(2): 215-223

Wang, K., Xu, L., Pan, L., Xu, K., Li, G. (2015) The functional BRCA1 rs799917 genetic polymorphism is associated with gastric cancer risk in a Chinese Han population. Tumor Biology, 36(1): 393-397

Weberpals, J.I., Clark-Knowles, K.V., Vanderhyden, B.C. (2008) Sporadic epithelial ovarian cancer: Clinical relevance of BRCA1 inhibition in the DNA damage and repair pathway. Journal of Clinical Oncology, 26(19): 3259-3267

Wenham, R.M., Schildkraut, J.M., McLean, K., Calingaert, B., et al. (2003) Polymorphisms in BRCA1 and BRCA2 and risk of epithelial ovarian cancer. Clin Cancer Res, 9

Wu, H.C., Delgado-Cruzata, L., Machella, N., Wang, Q., Santella, R.M., Terry, M.B. (2013) DNA double-strand break repair genotype and phenotype and breast cancer risk within sisters from the New York site of the Breast Cancer Family Registry (BCFR). Cancer Causes & Control, 24(12): 2157-2168

Zhang, X., Wei, J., Zhou, L., Zhou, C., Shi, J., Yuan, Q., Yang, M., Lin, D. (2013) A functional BRCA1 coding sequence genetic variant contributes to risk of esophageal squamous cell carcinoma. Carcinogenesis, 34(10): 2309-2313

Zhou, X., Han, S., Wang, S., Chen, X., Dong, J., Shi, X., Xia, Y., Wang, X., Hu, Z., Shen, H. (2009) Polymorphisms in HPV E6/E7 protein interacted genes and risk of cervical cancer in Chinese women: A case-control analysis. Gynecologic Oncology, 114(2): 327-331
   

O članku

jezik rada: engleski
vrsta rada: izvorni naučni članak
PMC ID: PMC6298454
DOI: 10.2478/jomb-2018-0037
objavljen u SCIndeksu: 04.02.2020.

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