Impact of <i>MDM2</i> promoter SNP55 (rs2870820) on risk of endometrial and ovarian cancer

Helwa, Reham; Gansmo, Liv Beathe; Bjørnslett, Merete; Halle, Mari K.; Werner, Henrica M.J.; Romundstad, Pål Richard; Hveem, Kristian; Vatten, Lars J.; Dørum, Anne; Lønning, Per Eystein; Knappskog, Stian

doi:10.1080/1354750x.2021.1891291

Cited by 4 publications

(3 citation statements)

References 34 publications

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“…All cases included in this case–control study were obtained from hospital-based cohorts of Norwegian patients diagnosed with OC at Oslo University Hospital, Radiumhospitalet (n = 1611). These cases have been used for genotype analyses of other polymorphisms previously 31 , 32 . Among these cases, 213 were found to harbour BRCA1 (n = 147) or BRCA2 (n = 66) germline mutations.…”

Section: Methodsmentioning

confidence: 99%

Impact of the APOBEC3A/B deletion polymorphism on risk of ovarian cancer

Gansmo

Sofiyeva

Bjørnslett

et al. 2021

Sci Rep

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A germline 29.5-kb deletion variant removes the 3’ end of the APOBEC3A gene and a large part of APOBEC3B, creating a hybrid gene that has been linked to increased APOBEC3 activity and DNA damage in human cancers. We genotyped the APOBEC3A/B deletion in hospital-based samples of 1398 Norwegian epithelial ovarian cancer patients without detected BRCA1/2 germline mutations and compared to 1,918 healthy female controls, to assess the potential cancer risk associated with the deletion. We observed an association between APOBEC3A/B status and reduced risk for ovarian cancer (OR = 0.75; CI = 0.61–0.91; p = 0.003) applying the dominant model. Similar results were found in other models. The association was observed both in non-serous and serous cases (dominant model: OR = 0.69; CI = 0.50–0.95; p = 0.018 and OR = 0.77; CI = 0.62–0.96; p = 0.019, respectively) as well as within high-grade serous cases (dominant model: OR = 0.79; CI = 0.59–1.05). For validation purposes, we mined an available large multinational GWAS-based data set of > 18,000 cases and > 26,000 controls for SNP rs12628403, known to be in linkage disequilibrium with the APOBEC3A/B deletion. We found a non-significant trend for SNP rs12628403 being linked to reduced risk of ovarian cancer in general and similar trends for all subtypes. For clear cell cancers, the risk reduction reached significance (OR = 0.85; CI = 0.69–1.00).

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Section: Methodsmentioning

confidence: 99%

Impact of the APOBEC3A/B deletion polymorphism on risk of ovarian cancer

Gansmo

Sofiyeva

Bjørnslett

et al. 2021

Sci Rep

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“…In a recent study, the same group analyzed the impact of the combination of all three SNPs and reported that the SNP55T allele variant is associated with a lower risk of endometrial cancer in women carrying the SNP285G and SNP309T. At the same time, this haplotype is not correlated with the risk of ovarian cancer ( 67 ).…”

Section: Effects Of Sex On P53 Circuitrymentioning

confidence: 99%

Role of Sex in the Therapeutic Targeting of p53 Circuitry

et al. 2021

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Sex profoundly affects cancer incidence and susceptibility to therapy, with sex hormones highly contributing to this disparity. Various studies and omics data suggest a relationship between sex and the oncosuppressor p53 circuitry, including its regulators MDM2 and MDM4. Association of this network with genetic variation underlies sex-related altered cancer risk, age of onset, and cancer sensitivity to therapy. Moreover, sex-related factors, mainly estrogenic hormones, can affect the levels and/or function of the p53 network both in hormone-dependent and independent cancer. Despite this evidence, preclinical and clinical studies aimed to evaluate p53 targeted therapy rarely consider sex and related factors. This review summarizes the studies reporting the relationship between sex and the p53 circuitry, including its associated regulators, MDM2 and MDM4, with particular emphasis on estrogenic hormones. Moreover, we reviewed the evaluation of sex/hormone in preclinical studies and clinical trials employing p53-target therapies, and discuss how patients’ sex and hormonal status could impact these therapeutic approaches.

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“…The Cancer Genome Atlas (TCGA) study of endometrioid and plasmacytoma identified many mutations in several crucial genes involved in cancer etiology, such as P53 , PTEN , PIK3CA , CTNNB1 , KRAS , and POLE . However, the relationship between these mutations in the indicated genes and susceptibility to endometrial cancer has not been elucidated in detail or with only a limited number of samples [ 20 ]. In the present study, we found that a certain alternative splicing in PSMD13 was strongly associated with endometrial cancer risk by searching the CancerSplicing QTL database.…”

Section: Introductionmentioning

confidence: 99%

Alternative splicing of PSMD13 mediated by genetic variants is significantly associated with endometrial cancer risk

Cao

Mao

et al. 2023

J Gynecol Oncol

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Objective Accumulating evidence has shown that aberrant alternative splicing events are closely associated with the onset and development of cancer. However, whether genetic variants-associated alternative splicing is linked to risk of endometrial cancer remains largely uncertain. Methods We identified single nucleotide polymorphisms (SNPs) locates in the splicing number trait locus (sQTL) of endometrial cancer using the CancerSplicing QTL database. In parallel with bioinformatics analysis, we conducted a case-control study comprising 2,000 cases and 2,013 controls to assess the association between identified SNP which possesses mRNA splicing function and endometrial cancer susceptibility. Furthermore, we used the Kaplan-Meier Plotter, The Human Protein Atlas, SPNR, and Spliceman2 databases for sQTL and differential gene expression analyses to identify the genetic variant which most potentially influence the risk of endometrial cancer through alternative splicing to reveal the potential mechanism by which candidate SNPs regulate the risk of endometrial cancer. Results The results indicated that SNP rs7128029 A

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Impact of MDM2 promoter SNP55 (rs2870820) on risk of endometrial and ovarian cancer

Cited by 4 publications

References 34 publications

Impact of the APOBEC3A/B deletion polymorphism on risk of ovarian cancer

Impact of the APOBEC3A/B deletion polymorphism on risk of ovarian cancer

Role of Sex in the Therapeutic Targeting of p53 Circuitry

Alternative splicing of PSMD13 mediated by genetic variants is significantly associated with endometrial cancer risk

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