Identifying Novel Targetable Chromosomal Alterations in Ovarian Cancer: Using Germline Copy Number Variation Association Analysis

Q4 Multidisciplinary

Scientific Journal of King Faisal University Pub Date : 2022-01-01 DOI:10.37575/b/med/220015

Hanan M Abd Elmoneim, Rehab J. Mohammed, Reda Abd El-Meguid, H. Tawfik, Manal Abd Elghany, Halah Albar, M. Basalamah, Nisreen D. M. Toni

{"title":"Identifying Novel Targetable Chromosomal Alterations in Ovarian Cancer: Using Germline Copy Number Variation Association Analysis","authors":"Hanan M Abd Elmoneim, Rehab J. Mohammed, Reda Abd El-Meguid, H. Tawfik, Manal Abd Elghany, Halah Albar, M. Basalamah, Nisreen D. M. Toni","doi":"10.37575/b/med/220015","DOIUrl":null,"url":null,"abstract":"The heterogeneity of ovarian cancer (Ov Ca) is attributed to multiple genetic and epigenetic changes, rendering it difficult to detect the most relevant molecular alterations. Identifying copy number variations (CNVs) will be helpful in screening patients with a familial history and will ultimately facilitate early diagnosis. This work aims to determine germline CNVs that may be associated with risks for different subtypes of ovarian cancer. Using Affymetrix genome-wide human SNP 6.0 arrays, 138 germline DNA samples of non-familial ovarian cancer were analysed using Golden Helix (SVS7) software. CNVs overlapping the EYA2 (20q13.12) and WNK1 (12p13.33) genes are the top hits with a significant p-value (<0.05). Deletion is more frequent in normal and low-grade carcinomas. Commonly, ovarian cancer is copy neutral (CN2) or has copy number gains (CN3). Amplification at these locations is associated with high-grade cases, which have worse overall survival rates. A CN3 in the WNK1 gene is associated with a higher expression of mRNA. It could be concluded that ovarian cancer is associated with CN3s where the segments of DNA overlap WNK1 and EYA2. The oncogenic effect of WNK1 and EYA2 on ovaries may serve as prognostic markers for ovarian cancer.","PeriodicalId":39024,"journal":{"name":"Scientific Journal of King Faisal University","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Scientific Journal of King Faisal University","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.37575/b/med/220015","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Multidisciplinary","Score":null,"Total":0}

引用次数: 0

Abstract

The heterogeneity of ovarian cancer (Ov Ca) is attributed to multiple genetic and epigenetic changes, rendering it difficult to detect the most relevant molecular alterations. Identifying copy number variations (CNVs) will be helpful in screening patients with a familial history and will ultimately facilitate early diagnosis. This work aims to determine germline CNVs that may be associated with risks for different subtypes of ovarian cancer. Using Affymetrix genome-wide human SNP 6.0 arrays, 138 germline DNA samples of non-familial ovarian cancer were analysed using Golden Helix (SVS7) software. CNVs overlapping the EYA2 (20q13.12) and WNK1 (12p13.33) genes are the top hits with a significant p-value (<0.05). Deletion is more frequent in normal and low-grade carcinomas. Commonly, ovarian cancer is copy neutral (CN2) or has copy number gains (CN3). Amplification at these locations is associated with high-grade cases, which have worse overall survival rates. A CN3 in the WNK1 gene is associated with a higher expression of mRNA. It could be concluded that ovarian cancer is associated with CN3s where the segments of DNA overlap WNK1 and EYA2. The oncogenic effect of WNK1 and EYA2 on ovaries may serve as prognostic markers for ovarian cancer.

查看原文本刊更多论文

鉴定卵巢癌中新的可靶向染色体改变:使用种系拷贝数变异关联分析

卵巢癌(Ov Ca)的异质性归因于多种遗传和表观遗传变化，使得很难检测到最相关的分子改变。识别拷贝数变异(CNVs)将有助于筛查有家族病史的患者，并最终促进早期诊断。这项工作旨在确定可能与不同亚型卵巢癌风险相关的种系CNVs。采用Affymetrix人类SNP 6.0全基因组阵列，采用Golden Helix (SVS7)软件对138份非家族性卵巢癌种系DNA样本进行分析。与EYA2 (20q13.12)和WNK1 (12p13.33)基因重叠的CNVs是最高的命中数，p值显著(<0.05)。缺失在正常和低级别癌中更为常见。通常，卵巢癌是拷贝中性(CN2)或拷贝数增加(CN3)。这些部位的扩增与高等级病例相关，高等级病例的总生存率较差。WNK1基因中的CN3与mRNA的高表达相关。由此可以得出结论，卵巢癌与DNA片段重叠的CN3s有关，其中WNK1和EYA2重叠。WNK1和EYA2对卵巢的致癌作用可能作为卵巢癌的预后指标。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Scientific Journal of King Faisal University Multidisciplinary-Multidisciplinary

CiteScore

0.60

自引率

0.00%

发文量

期刊介绍： The scientific Journal of King Faisal University is a biannual refereed scientific journal issued under the guidance of the University Scientific Council. The journal also publishes special and supplementary issues when needed. The first volume was published on 1420H-2000G. The journal publishes two separate issues: Humanities and Management Sciences issue, classified in the Arab Impact Factor index, and Basic and Applied Sciences issue, on June and December, and indexed in (CABI) and (SCOPUS) international databases.