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Comparative Genomic Hybridization and Copy Number Abnormalities in Breast Cancer
Published in Brian Leyland-Jones, Pharmacogenetics of Breast Cancer, 2020
Several recurrent high-level CNAs are associated with clinical endpoints, including reduced survival duration and response to aberration-targeted therapies. Assays for recurrent aberrations or genes deregulated by CNA abnormalities have already been incorporated into molecular indicators of outcome. In addition, several therapeutic agents are now being developed to attack genes deregulated fully or in part by recurrent genome abnormalities so that assays for these targets may be useful as predictors of response. In breast cancer, the most prominent examples are trastuzumab (20,21) and lapatinib (22) (NEJM PMID 17192538), developed to attack tumors driven by amplification of ERBB2. In addition, therapies have been developed to treat tumors arising from deletion or inactivation of TP53 (23) and activation of elements of the PI3-kinase pathway, including PIK3CA, PTEN, AKT, and ZNF217 (24–27).
The genetics of bladder cancer
Published in J. K. Cowell, Molecular Genetics of Cancer, 2003
Gains of 20q and some high-level amplifications have been consistently reported. Similar changes have been identified cytogenetically during in vitro transformation of human urothelial cells (Reznikoff et al., 1996). In vitro, over-representation of 20q is associated with immortalization. Several candidate genes have been identified on 20q including STK15/BTAK (Zhou et al., 1998) and ZNF217 (Collins et al., 1998), neither of which have yet been examined in bladder tumors. The former has been shown to induce centrosome abnormalities and aneuploidy when ectopically expressed in cultured cells. This is compatible with the observation of increasing aneuploidy in urothelial cells following immortalization.
Clear cell carcinoma of the ovary and venous thromboembolism: a systematic review and meta-analysis
Published in Current Medical Research and Opinion, 2023
Hamidreza Didar, Farah Farzaneh, Hanieh Najafiarab, Kosar Namakin, Kimiya Gohari, Ali Sheidaei, Sepehr Ramezani
Therefore, multiple analyses were performed based on the geographic location of studies, the tumor stage at the incidence of VTE, and study types. Among all locations, the pooled prevalence of VTE among OCCC patients was higher in Japan (26.15%), which was two times higher than China (13.61%). A meta-analysis by Kristin S. Weeks on the VTE risk in ovarian cancer patients59 demonstrated that Japanese women with ovarian cancer had a higher risk of VTE events (20%) compared with Chinese women (8%). However, most studies demonstrating VTE events in OCCC were performed in Japan, while few studies were carried out in China. A study revealed that amplification of Zinc Finger Protein 217 (ZNF217) was noticeably higher in Japanese clear cell tumor samples as compared with Korean and German specimens. ZNF217 may promote neoplastic transformation by promoting cell survival during the telomeric crisis, leading to the survival of tumor cells and promoting later stages of malignancy60. VTE prevalence was higher among patients with advanced stages almost in all studies. Shuang Ye et al.41 revealed the higher prevalence of VTE in the advanced stages of OCCC (21.9%) than in the early stages (8.2%). Moreover, Matsuura et al.50 showed that VTE was more common in the advanced stages of OCCC (66.66% [16/24]) than in the early stages (28.57% [12/42]). These findings indicate a possible connection between the amplification of ZNF217 and the promotion of clear cell carcinoma to advanced stages in Japanese women compared to others. More VTE events are expected at more advanced cases.
Environmental exposures and RNA N6-Methyladenosine modified long Non-Coding RNAs
Published in Critical Reviews in Toxicology, 2020
Finally, disruption of RNA m6A modifying genes are associated with different types of cancer (Barbieri and Kouzarides 2020). For example, hypoxic environments and dysregulation of hypoxia-inducible factors (HIFs) involved in cancers, including lung, brain, pancreatic, colon etc. In breast cancer, hypoxia is associated with ALKBH5 is an m6A demethylating enzyme, and ZNF217 inhibits the RNA methylation writer complex (RBM15–WTAP–METTL3–METTL14). Likewise, increased level of m6A methylation machinery proteins have been linked with leukemia (Jaffrey and Kharas 2017). METTL3, METTL14, FTO, YTHDF2 are associated with acute myeloid leukemia (Tanabe et al. 2016; Li et al. 2017; Vu et al. 2017), hepatocellular carcinoma, endometrial cancer, while METTL3 and METTL14 are associated with lung cancer (Lin et al. 2016), and METTL3, METTL14, ALKBH5 are associated with glioblastoma (Cui et al. 2017; Zhang et al. 2017; Visvanathan et al. 2018). Finally, METTL3 and METTL14 are implicated in hepatocellular cancer (Chen et al. 2018; Lin et al. 2019). Furthermore, mutations in m6A RNA methylation machinery genes were associated with obesity (Dina et al. 2007; Frayling et al. 2007; Scuteri et al. 2007), and neurological diseases (McGuinness and McGuinness 2014).
Genomic characterization reveals potential biomarkers in nasopharyngeal carcinoma patients with relapse
Published in Expert Review of Molecular Diagnostics, 2020
William C. S. Cho, Ka-Po Tse, Roger K. C. Ngan, Wah Cheuk, Victor W. S. Ma, Yi-Ting Yang, Timothy T. C. Yip, Kien Thiam Tan, Shu-Jen Chen
Profiles of CNAs were also compared, and more CNAs were significantly detected in the relapsed group than the non-relapsed group (Figure 2(b), median 35 versus 5, P < 0.001, by Mann-Whitney test). We found that seven (100%) cases in the relapsed group carrying at least eight CNAs, but only ten (66.7%) patients in the non-relapsed group harboring at least one copy number gain. Significant gains of cytobands (copy number > 3) covering seven genes ZNF217 (P = 0.001), CALR (P = 0.004), VEGFB (P = 0.005), CDKN1B (P = 0.014), MEN1 (P = 0.021), PRDM1 (P = 0.021) and GNAS (P = 0.023) were observed in the relapsed group (Figure 2(a)).