scholarly journals Association of two common single-nucleotide polymorphisms in the CYP19A1 locus and ovarian cancer risk

2008 ◽  
Vol 15 (4) ◽  
pp. 1055-1060 ◽  
Author(s):  
M. T Goodman ◽  
G. Lurie ◽  
P. J Thompson ◽  
K. E McDuffie ◽  
M. E Carney
Keyword(s):  
Ovarian Cancer ◽  
Cancer Risk ◽  
Single Nucleotide Polymorphisms ◽  
Ovarian Cancer Risk ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

scholarly journals Analysis of Genetic Variation in Circadian Rhythm Genes and Risk of Ovarian Cancer.

2021 ◽  
Author(s):  
Sonali Verma ◽  
Gresh Chander ◽  
Amrita Bhat ◽  
Gh.Rasool Bhat ◽  
Divya Bakshi ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Circadian Rhythm ◽  
Cancer Risk ◽  
Biological Clock ◽  
North India ◽  
Candidate Snps ◽  
Ovarian Cancer Risk ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Jammu And Kashmir

Abstract BackgroundDisruption in biological clock due to genetic variations is associated with increased occurrence of cancers such as breast, ovary, prostate, gastrointestinal and hematological malignancies. Circadian rhythm genes regulate the process of ovulation in the ovaries and are highly expressed in ovarian tumors; whereas disturbance in the circadian rhythm pathway is significantly associated with causative risk factors (i.e. endometriosis, PCOS, etc.) of ovarian cancer. Nevertheless, very few studies have been conducted till date where candidate SNPs of circadian rhythm genes proved as the main prognosticators of ovarian cancer risk and intrusiveness. The main purpose of this study was to investigate some common single nucleotide polymorphisms (SNPs) in circadian rhythm genes (rs475715 of BMAL1/ARNTL, rs1026071, and rs228644 of PER3, rs3792152 of REV1, and rs7302060 of TIMELESS) as causative markers of ovarian cancer risk of in the population of Jammu and Kashmir in India. ResultsOur study included a total of 600 samples (200 cases and 400 age and sex-matched controls). Analysis of the genotype data from the selected SNPs indicated most significant association of rs3792152 of REV1 (OR=1.6, with 95% CI=0.12-1.2, p=0.0003) and rs4757151 of BMAL1/ARNTL (OR=1.847, with 95% CI=1.406-2.426, p=9.15E-06) with the ovarian cancer. The functional putative analysis revealed a significant regulatory effect of both these variants on other genes. ConclusionThese results suggest that some SNPs in circadian rhythm genes, particularly BMAL1/ARNTL and REV1, might be associated with the risk of ovarian cancer in the J&K population of North India.

scholarly journals Single-Nucleotide Polymorphisms Sequencing Identifies Candidate Functional Variants at Prostate Cancer Risk Loci

Genes ◽  
2019 ◽  
Vol 10 (7) ◽  
pp. 547 ◽  
Author(s):  
Peng Zhang ◽  
Lori S. Tillmans ◽  
Stephen N. Thibodeau ◽  
Liang Wang
Keyword(s):  
Prostate Cancer ◽  
Cancer Risk ◽  
Single Nucleotide Polymorphisms ◽  
Protein Binding ◽  
Prostate Cancer Risk ◽  
Sequencing Analysis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Functional Variants ◽  
Dependent Protein

Genome-wide association studies have identified over 150 risk loci that increase prostate cancer risk. However, few causal variants and their regulatory mechanisms have been characterized. In this study, we utilized our previously developed single-nucleotide polymorphisms sequencing (SNPs-seq) technology to test allele-dependent protein binding at 903 SNP sites covering 28 genomic regions. All selected SNPs have shown significant cis-association with at least one nearby gene. After preparing nuclear extract using LNCaP cell line, we first mixed the extract with dsDNA oligo pool for protein–DNA binding incubation. We then performed sequencing analysis on protein-bound oligos. SNPs-seq analysis showed protein-binding differences (>1.5-fold) between reference and variant alleles in 380 (42%) of 903 SNPs with androgen treatment and 403 (45%) of 903 SNPs without treatment. From these significant SNPs, we performed a database search and further narrowed down to 74 promising SNPs. To validate this initial finding, we performed electrophoretic mobility shift assay in two SNPs (rs12246440 and rs7077275) at CTBP2 locus and one SNP (rs113082846) at NCOA4 locus. This analysis showed that all three SNPs demonstrated allele-dependent protein-binding differences that were consistent with the SNPs-seq. Finally, clinical association analysis of the two candidate genes showed that CTBP2 was upregulated, while NCOA4 was downregulated in prostate cancer (p < 0.02). Lower expression of CTBP2 was associated with poor recurrence-free survival in prostate cancer. Utilizing our experimental data along with bioinformatic tools provides a strategy for identifying candidate functional elements at prostate cancer susceptibility loci to help guide subsequent laboratory studies.

Single nucleotide polymorphisms in the 20q13 amplicon genes in relation to breast cancer risk and clinical outcome

2011 ◽  
Vol 130 (3) ◽  
pp. 905-916 ◽  
Author(s):  
Hong Shi ◽  
Melanie Bevier ◽  
Robert Johansson ◽  
Ewa Grzybowska ◽  
Bowang Chen ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
Single Nucleotide Polymorphisms ◽  
Clinical Outcome ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

scholarly journals The influence of single nucleotide polymorphisms on the association between dietary acrylamide intake and endometrial cancer risk

2016 ◽  
Vol 6 (1) ◽  
Author(s):  
Janneke G. F. Hogervorst ◽  
Piet A. van den Brandt ◽  
Roger W. L. Godschalk ◽  
Frederik-Jan van Schooten ◽  
Leo J. Schouten
Keyword(s):  
Endometrial Cancer ◽  
Cancer Risk ◽  
Single Nucleotide Polymorphisms ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Endometrial Cancer Risk ◽  
Dietary Acrylamide
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