scholarly journals Detection of HER2 Gene Polymorphism in Breast Cancer: PCR Optimization Study

2016 ◽  
Vol 84 (1) ◽  
pp. 103-111 ◽  
Author(s):  
Bugi Ratno BUDIARTO
2015 ◽  
Vol 54 (1) ◽  
pp. 41-49 ◽  
Author(s):  
Lalro Kimi ◽  
Souvik Ghatak ◽  
Ravi Prakash Yadav ◽  
Lalhma Chhuani ◽  
Doris Lallawmzuali ◽  
...  

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Jun Wu ◽  
Alibiati Eni ◽  
Eliar Roussuri ◽  
Binlin Ma

Abstract Background This study is to explore the relationship between the ZBRK1/ZNF350 (Zinc finger and BRCA1-interacting protein with KRAB domain-1; also known as zinc-finger protein 350) gene polymorphism and early-onset breast cancer. Methods The ZBRK1/ZNF350 gene exon detection analysis was performed with the direct sequencing and Snapshot methods in 80 cases of breast cancer (aged ≤ 40 years old) and 240 healthy subjects (aged ≤ 40 years old). Results Totally 9 sequence variants were detected, including 5 missense mutations and 4 synonymous mutations, located at EXON3, EXON4 and EXON5, respectively. The rs4987241 and rs3764538 variants were published for the first time, while the remaining variants had been reported before. There were significant differences in the frequency distribution of family history between the breast cancer and control groups. Moreover, there were significant differences in the CT genotype frequency at the rs138898320 locus between the breast cancer and healthy control groups. Compared with the carriers of CC wild genotype at rs138898320, the risk of breast cancer was reduced by 88.3% in the CT mutant genotype carriers, with significant difference. In the stratification with no family history, compared with the carriers of CC wild genotype at rs138898320, significant differences were observed for the CT mutant genotype carriers. In the stratification with family history, there was no significant difference in the variation of rs138898320. Conclusion The rs138898320 CT mutation genotype of ZBRK1/ZNF350 may reduce the risk of breast cancer, and the protecting effect would be increased in the stratification with no family history. Trial registration Not applicable.


2007 ◽  
Vol 43 (3) ◽  
pp. 219-225 ◽  
Author(s):  
Claudia Giuliano Bica ◽  
Ivana Beatrice Mânica da Cruz ◽  
Leonardo Leiria de Moura da Silva ◽  
Nadima Vieira Toscani ◽  
Cláudio Galleano Zettler ◽  
...  

2018 ◽  
Vol 6 (11) ◽  
pp. 1977-1981 ◽  
Author(s):  
Hadi Atabati ◽  
Amir Raoofi ◽  
Abdollah Amini ◽  
Reza Masteri Farahani

BACKGROUND: In patients with breast cancer, HER2 gene expression is of a great importance in reacting to Herceptin treatment. To evaluate this event, immunohistochemistry (IHC) has been done routinely on the basis of scoring it and so the patients were divided into 4 groups. Lately, as there have been disagreements about how to treat score 2 patients, chromogenic in situ hybridization (CISH) and florescence in situ hybridization (FISH) are introduced. Since CISH method is more convenient than FISH for gene amplification study, FISH has been substituted by CISH. AIM: The current study is conducted in order to investigate whether using CISH is a better method comparison to IHC method for determines HER2 expression in patients with breast cancer in. METHODS: In this cross-sectional descriptive analytical study, information of 44 female patients with invasive ductal breast cancer were gathered from Imam Reza and Omid Hospital in Mashhad. IHC staining was done for all patients in order to determine the level of HER2 expression, and after scoring them into 4 groups of 0, +1, +2 and +3, CISH staining was carried out for all 4 groups. At the end, results from both methods were statistically evaluated using SPSS software V.22.0. RESULTS: The average age of patients was 50.2 with the standard deviation of 10.96. Using IHC method was observed that 2.6% (1 patient), 26.3% (10 patients), 65.8% (25 patients) and 5.3% (2 patients) percentage of patients had scores of 0, +1, +2 and +3. On the other hand, CISH method showed 36 patients (90%) with no amplifications and 4 (10%) with sever amplifications. In a comparative study using Fisher's exact test (p = 0.000), we found a significant relation between IHC method and CISH method indicating that all patients showing severe amplifications in CISH method, owned scores of +2 and +3 in IHC method. CONCLUSION: According to the present study and comparing the results with similar previous studies, it can be concluded that CISH method works highly effective in determining HER2 expression level in patients with breast cancer. This method is also able to determine the status of patients with score +2 in IHC for their treatment with herceptin


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