A genetic variant in CDKN2A/B gene is associated with the increased risk of breast cancer

Shahidsales, Soodabeh; Mehramiz, Mehraneh; Ghasemi, Faezeh; Aledavood, Amir; Shamsi, Mehri; Hassanian, Seyed Mahdi

doi:10.1002/jcla.22190

Cited by 22 publications

(21 citation statements)

References 19 publications

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“…15,16,18 According to the obtained results, the allele C was the risk allele and the subjects who expressed this genotype were more susceptible to breast cancer. In contrast, our data was not confirmed by Shahidsales et al 57 They showed that the TT allele had the risk allele associated with breast cancer (OR, 4.9; 95% CI, 1.9 to 12; P < 0.001). Furthermore, Driver et al evaluated the 13-cell cycle involved genes with the risk of breast cancer.…”

Section: Discussioncontrasting

confidence: 99%

Evaluation of the two polymorphisms rs1801133 in MTHFR and rs10811661 in CDKN2A/B in breast cancer

Hesari

Maleksabet

Tirkani

et al. 2018

J of Cellular Biochemistry

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The 5,10‐Methylenetetrahydrofolate reductase (MTHFR) was the rate‐limiting enzyme in the methyl cycle, which was encoded by the MTHFR gene. MTHFR played a key role in homocysteine plasma level and was associated with the risk of breast cancer. The cyclin‐dependent kinase (CDK) inhibitor (CDKN2A/B) was the tumor suppressor in the cell cycle regulation. The single‐nucleotide polymorphism was thought to be associated with the predisposition of breast cancer and in subsequent immune response in different populations. The current study was conducted on a peripheral blood sample of 100 Iranian women with breast carcinoma and 142 cancer‐free healthy female volunteers. The TaqMan real‐time polymerase chain reaction technique was applied for genotyping of participants. The correlation of both variants and demographic data were investigated with the risk of breast cancer. Our data showed that the MTHFR allele T and TT genotype had the higher prevalence in patients (P < 0.0001) than the control group. The frequency of risk C allele into the CDKN2A/B rs10811661 was 72%. The correlations of menarche and underlying hormonal disorder with the risk of breast cancer were investigated; also our results showed that the menopause status was statistically significant between patients and controls (P = 0.036). Our investigations demonstrated that the MTHFR rs180113 and CDKN2A/B rs10811661 had a significant correlation with the elevated risk of breast cancer and they might be potentially valuable to apply as a prognostic factor for individual health care.

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Section: Discussioncontrasting

confidence: 99%

Evaluation of the two polymorphisms rs1801133 in MTHFR and rs10811661 in CDKN2A/B in breast cancer

Hesari

Maleksabet

Tirkani

et al. 2018

J of Cellular Biochemistry

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“…We studied the value of the CDKN2A/B‐rs1333049 and its expression with a high risk of breast cancer for the first time. Our study reported a higher susceptibility in holders GC/CC genotypes to breast cancer, which is in line with our previous studies (Ghobadi et al, 2017; ShahidSales et al, ), and other studies in pancreas and breast carcinomas and also multiple melanomas (Borg et al, ; Burdon et al, ; Dębniak et al, ; Sherborne et al, ; Yang et al, ). Li et al () analyzed 9p21 SNPs in a large scale study, including studies of breast cancer, renal cell carcinoma, ESCC, and pancreatic cancer.…”

Section: Discussionsupporting

confidence: 92%

“…Previously, we showed the association of CDKN2A/B rs10811661 in 564 subjects suffering from breast cancer. This data showed that those with the TT genotype for CDKN2A/B polymorphism had a growing risk of susceptibility to BR (ShahidSales et al, ). In another study of our group, the associations of two SNPs; rs1333049 and rs10811661 located in CDKN2A/B loci were assessed with clinical features of individuals with esophageal squamous cell carcinoma.…”

Section: Introductionmentioning

confidence: 97%

Association of cyclin‐dependent kinase inhibitor 2A/B with increased risk of developing breast cancer

Seifi

Pouya

Rahmani

et al. 2019

Journal Cellular Physiology

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There is a growing body of data reporting the association of genetic alterations in chromosome 9P21 with the risk of developing cancer. In the current study, we studied the association of a genetic variant in CDKN2A/B, rs1333049, with the risk of developing breast cancer. A total of 339 participants with and without breast cancer entered to the study. Genotyping was done by the TaqMan real‐time polymerase chain reaction (RT‐PCR) method and gene expression analysis was ran by RT‐PCR. Our data showed that the minor allele homozygote in the total population was 10%, whereas for heterozygote was 38%. The dominant genetic model demonstrated that individuals with breast cancer had advanced TNM classification. Moreover, the logistic regression revealed that individuals who had CC/CG genotypes might have an enhanced risk of developing breast cancer when compared to the holders of GG genotype (e.g., OR = 2.8; 95% CI,1.4–5.4; p = .001), after regulated for confounders; age and body mass index. Furthermore, our analysis showed that the CDKN2A/B gene was downregulated in patients (p < .001). We showed a meaningful relationship of CDKN2A/B with the risk of breast cancer, cancer, showing the importance of studies in great sample size and several centers for studying the value of the marker as a risk classification in the management of patients with breast cancer.

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“…Case-control studies have suggested several genetic markers that are associated with breast cancer risk within various populations (Ghoussaini et al, 2012). Previous studies have suggested that the 9p21 locus gene variants (rs1011970 and rs3088440) are associated with an increased risk of breast cancer (Royds et al, 2016;ShahidSales et al, 2017). The genes at the 9p21 locus encode several important proteins.…”

Section: Introductionmentioning

confidence: 99%

The 9p21 locus: A potential therapeutic target and prognostic marker in breast cancer

Rivandi

Khorrami

Fiuji

et al. 2018

Journal Cellular Physiology

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Breast cancer is an important cause of cancer related mortality in women. Despite extensive efforts to identify valid biomarkers for risk stratification, there are relatively few with proven clinical utility. It is recognized that genetic factors play a major role in determining susceptibility to breast cancer. Recent genome-wide-association-studies and gene expression analysis have demonstrated that a locus on chromosome 9p21, which contains three genes; CDKN2B (encoding p15ink4b), CDKN2A (encoding p16ink4a and p14ARF) and the 3' end of CDKN2BAS (an antisense noncoding RNA in the INK4 locus [ANRIL]) are associated with an increased risk of this malignancy. ANRIL has a post transcriptional modulatory activity, which has been shown to perturb the expression of nearby genes and may play an important role in coordinating tissue remodeling through regulation of cell proliferation, apoptosis, aging, extra-cellular matrix remodeling, and inflammatory response. However, the role of ANRIL is not well understood in breast cancer. Hypermethylation of the p14 and p16 genes is found in some tumor types. Nevertheless, further studies are necessary to confirm the clinical utility of these putative markers in risk stratification, or assessing prognosis. In this review, we have summarized the prognostic and therapeutic potential of the p14 and p16 genes in patients with breast cancer.

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A genetic variant in CDKN2A/B gene is associated with the increased risk of breast cancer

Cited by 22 publications

References 19 publications

Evaluation of the two polymorphisms rs1801133 in MTHFR and rs10811661 in CDKN2A/B in breast cancer

Evaluation of the two polymorphisms rs1801133 in MTHFR and rs10811661 in CDKN2A/B in breast cancer

Association of cyclin‐dependent kinase inhibitor 2A/B with increased risk of developing breast cancer

The 9p21 locus: A potential therapeutic target and prognostic marker in breast cancer

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