scholarly journals ErbB2 copy number gain is associated with adverse outcome in canine mammary carcinoma

Author(s):  
Kosei SAKAI ◽  
James Ken CHAMBERS ◽  
Kazuyuki UCHIDA ◽  
Takayuki NAKAGAWA ◽  
Ryohei NISHIMURA ◽  
...  
2021 ◽  
Vol 11 (1) ◽  
pp. 33
Author(s):  
Nayoung Han ◽  
Jung Mi Oh ◽  
In-Wha Kim

For predicting phenotypes and executing precision medicine, combination analysis of single nucleotide variants (SNVs) genotyping with copy number variations (CNVs) is required. The aim of this study was to discover SNVs or common copy CNVs and examine the combined frequencies of SNVs and CNVs in pharmacogenes using the Korean genome and epidemiology study (KoGES), a consortium project. The genotypes (N = 72,299) and CNV data (N = 1000) were provided by the Korean National Institute of Health, Korea Centers for Disease Control and Prevention. The allele frequencies of SNVs, CNVs, and combined SNVs with CNVs were calculated and haplotype analysis was performed. CYP2D6 rs1065852 (c.100C>T, p.P34S) was the most common variant allele (48.23%). A total of 8454 haplotype blocks in 18 pharmacogenes were estimated. DMD ranked the highest in frequency for gene gain (64.52%), while TPMT ranked the highest in frequency for gene loss (51.80%). Copy number gain of CYP4F2 was observed in 22 subjects; 13 of those subjects were carriers with CYP4F2*3 gain. In the case of TPMT, approximately one-half of the participants (N = 308) had loss of the TPMT*1*1 diplotype. The frequencies of SNVs and CNVs in pharmacogenes were determined using the Korean cohort-based genome-wide association study.


2014 ◽  
Vol 3 (5) ◽  
pp. 1170-1184 ◽  
Author(s):  
Rebecca Towle ◽  
Ivy F. L. Tsui ◽  
Yuqi Zhu ◽  
Sara MacLellan ◽  
Catherine F. Poh ◽  
...  

2021 ◽  
pp. 030098582110186
Author(s):  
Hisashi Yoshimura ◽  
Maiko Moriya ◽  
Ayaka Yoshida ◽  
Masami Yamamoto ◽  
Yukino Machida ◽  
...  

Nestin, a class VI intermediate filament protein, is known to be expressed in various types of human neoplasms, including breast cancer, and is associated with their progression. However, its expression and role in canine mammary tumors remain unknown. We analyzed nestin expression in canine mammary tumors using in situ hybridization and immunohistochemistry. We also investigated its role in a canine mammary carcinoma cell line using RNA interference. Nestin expression was not observed in luminal epithelial cells of any of the 62 cases of benign mammary lesions examined, although myoepithelial cells showed its expression in most cases. In 16/50 (32%) primary mammary carcinomas and 6/15 (40%) metastases of mammary carcinomas, cytoplasmic nestin expression was detected in luminal epithelial cells. In luminal cells of primary mammary carcinomas, its expression was positively related to several pathological parameters that indicate high-grade malignancy, including histological grading ( P < .01), vascular/lymphatic invasion ( P < .01), Ki-67 index ( P < .01), and metastasis ( P < .05). Immunohistochemistry revealed that nestin expression was related to vimentin expression in mammary carcinomas ( P < .01). This relationship was confirmed using reverse transcription-quantitative polymerase chain reaction using 9 cell lines derived from canine mammary carcinoma ( P < .01). Finally, nestin knockdown in canine mammary carcinoma cells using small interfering RNA inhibited cell proliferation and migration based on WST-8, Boyden chamber, and cell-tracking assays. These findings suggest that nestin may at least partially mediate these behaviors of canine mammary carcinoma cells.


2020 ◽  
Vol 9 (3) ◽  
pp. 603-616 ◽  
Author(s):  
Tobias Raphael Overbeck ◽  
Dana Alina Cron ◽  
Katja Schmitz ◽  
Achim Rittmeyer ◽  
Wolfgang Körber ◽  
...  

2020 ◽  
Vol 8 (4) ◽  
pp. 1937-1938
Author(s):  
M Thangapandiyan ◽  
V Kumar ◽  
P Krishnaveni ◽  
GV Sudhakar Rao

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