BRIP1 a potential candidate gene in development of non-BRCA1 2 breast cancer

10.2741/767 ◽  
2016 ◽  
Vol 8 (2) ◽  
pp. 289-298
Author(s):  
Allal Ouhtit
Keyword(s):  
Breast Cancer ◽  
Candidate Gene ◽  
Potential Candidate ◽  
Potential Candidate Gene

scholarly journals Global Characterization of Metabolic Genes Regulating Survival and Immune Infiltration in Osteosarcoma

2022 ◽  
Vol 12 ◽  
Author(s):  
Zhongpei Zhu ◽  
Min Zhang ◽  
Weidong Wang ◽  
Peng Zhang ◽  
Yuqiang Wang ◽  
...  
Keyword(s):  
Tumor Microenvironment ◽  
Candidate Gene ◽  
Cell Lines ◽  
Immune Cells ◽  
Immune Cell ◽  
Computational Techniques ◽  
Potential Candidate ◽  
Osteosarcoma Cell ◽  
Potential Candidate Gene ◽  
Metabolic Genes

Background: The alterations in metabolic profile of tumors have been identified as one of the prognostic hallmarks of cancers, including osteosarcoma. These alterations are majorly controlled by groups of metabolically active genes. However, the regulation of metabolic gene signatures in tumor microenvironment of osteosarcoma has not been well explained.Objectives: Thus, we investigated the sets of previously published metabolic genes in osteosarcoma patients and normal samples.Methods: We applied computational techniques to identify metabolic genes involved in the immune function of tumor microenvironment (TME) and survival and prognosis of the osteosarcoma patients. Potential candidate gene PAICS (phosphoribosyl aminoimidazole carboxylase, phosphoribosyl aminoimidazole succino carboxamide synthetase) was chosen for further studies in osteosarcoma cell lines for its role in cell proliferation, migration and apoptosis.Results: Our analyses identified a list of metabolic genes differentially expressed in osteosarcoma tissues. Next, we scrutinized the list of genes correlated with survival and immune cells, followed by clustering osteosarcoma patients into three categories: C1, C2, and C3. These analyses led us to choose PAICS as potential candidate gene as its expression showed association with poor survival and negative correlation with the immune cells. Furthermore, we established that loss of PAICS induced apoptosis and inhibited proliferation, migration, and wound healing in HOS and MG-63 cell lines. Finally, the results were supported by constructing and validating a prediction model for prognosis of the osteosarcoma patients.Conclusion: Here, we conclude that metabolic genes specifically PAICS play an integral role in the immune cell infiltration in osteosarcoma TME, as well as cancer development and metastasis.

GPR3 may not be a potential candidate gene for premature ovarian failure

2010 ◽  
Vol 20 (1) ◽  
pp. 53-55 ◽  
Author(s):  
Sirui Zhou ◽  
Binbin Wang ◽  
Feng Ni ◽  
Jing Wang ◽  
Yunxia Cao ◽  
...  
Keyword(s):  
Candidate Gene ◽  
Premature Ovarian Failure ◽  
Ovarian Failure ◽  
Potential Candidate ◽  
Potential Candidate Gene

scholarly journals Deploying QTL-seq for rapid delineation of a potential candidate gene underlying major trait-associated QTL in chickpea

DNA Research ◽  
2015 ◽  
Vol 22 (3) ◽  
pp. 193-203 ◽  
Author(s):  
S. Das ◽  
H. D. Upadhyaya ◽  
D. Bajaj ◽  
A. Kujur ◽  
S. Badoni ◽  
...  
Keyword(s):  
Candidate Gene ◽  
Potential Candidate ◽  
Potential Candidate Gene

Delineation of the genetic and clinical spectrum, including candidate genes, of monogenic diabetes: a multicenter study in South Korea

2020 ◽  
Vol 33 (12) ◽  
pp. 1539-1550
Author(s):  
Chong Kun Cheon ◽  
Yeoun Joo Lee ◽  
Sukdong Yoo ◽  
Jung Hee Lee ◽  
Jeong Eun Lee ◽  
...  
Keyword(s):  
South Korea ◽  
Candidate Gene ◽  
Multicenter Study ◽  
Glycosylated Hemoglobin ◽  
Monogenic Diabetes ◽  
Gene Variants ◽  
Potential Candidate ◽  
Korean Children ◽  
Potential Candidate Gene ◽  
Molecular Features

AbstractObjectivesMonogenic diabetes includes a group of heterogeneous diabetes types. We aimed to identify the frequency, clinical and molecular features of monogenic diabetes in a Korean pediatric cohort.MethodsA retrospective cohort and multicenter study of Korean children suspected to have monogenic diabetes, managed by four pediatric endocrine centers in the southeast region of South Korea, from February 2016 to February 2020. We recruited 27 pediatric Korean patients suspected to have monogenic diabetes who had at least two of the following three criteria (age at diagnosis, family history, and clinical presentation). Targeted exome sequencing was conducted in these patients. The functional consequences of the variants were predicted by bioinformatics and protein structure analysis.ResultsMolecular genetic analysis identified 16 patients (59.3%) with monogenic diabetes. We identified a total of eight unique variants, including five novel variants (HNF4A c.1088C>T, CEL c.1627C>T and c.1421C>T, PAX4 c.538+8G>C, INS c.71C>T). We also identified two potential candidate gene variants for monogenic diabetes, namely c.650T>C in the SLC2A2 gene and c.629G>A in the PTF1A gene. Other variants were identified in the WFS1and NPHP3 genes in two rare genetic disorders. Variant-positive individuals had a lower presence of autoantibody positivity at the time of diagnosis and higher glycosylated hemoglobin levels at last follow-up when compared to variant-negative patients (p<0.001 and p=0.029, respectively).ConclusionsThese results further expand the spectrum of known variants as well as potential candidate gene variants associated with monogenic diabetes in Korea.

scholarly journals Hypermethylation at CpG islands of GSTP1 gene’s promoter is the typical property of breast cancer in Vietnamese population

2015 ◽  
Vol 18 (2) ◽  
pp. 105-112
Author(s):  
Thao Thi Phuong Doan ◽  
Phuong Kim Truong ◽  
Thuan Duc Lao ◽  
Thuy Huyen Ai Le
Keyword(s):  
Breast Cancer ◽  
Breast Tissue ◽  
Cpg Island ◽  
Medical Center ◽  
Methylation Status ◽  
Cpg Islands ◽  
Potential Candidate ◽  
Potential Candidate Gene ◽  
Vietnamese Population ◽  
Near Future

The demand for biomarker that applied in prognosis, early diagnosis, predicting and/or monitoring the therapeutic response and detection of recurrent cancer is the worldwide expection. One of the biomarker, which the worldwide researches focused on, is the hypermethylation at CpG island of promoter which undergoes the DNA methylation changes in carcinogenesis. In current study, the target gene is GSTP1 (Glutathion-Stransferase pi 1 gene), with one of the most function is particularly involved in detoxification. Because of this function, GSTP1 (obviously based on the frequencies of methylation) has been chosen as a potential candidate gene for several clinical trials in predicting of the response to the demethylation drugs in several cancers, including breast cancer. In this study, we foscused on the evaluation of the methylation status of 115 biopsy specimens collected from university medical center HCMC, including 95 breast cancer specimens and 20 noncancerous breast tissue. The results showed that 41 of 95 (43.2 %) breast cancer specimens are hypermethylated, no methylation was found on the noncancerous breast tissue (p<0.01). These results allowed us to predict the totally corresponding to the application of the treatment, which based on the demethylation drug, one of the epi-drug line, in Vietnamese patients in the near future.

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