Varaico: Literature-Extracted Genetic Variants

Gene:MDM2
Variant:p.R5Splc
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MDM2

NM_002392.6:p.R5Splc

Associated Papers

Consideration of inherited cancer risk on a continuum: An international and multidisciplinary perspective: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).

Pal T et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2026

The Contribution of Genetic Modifiers to Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.

Cylwik D et al.

Cancers, 2026

Radiotherapy in Li-Fraumeni Syndrome: From Biological Concern to Personalized Clinical Decision-Making.

El Mjabber R et al.

Cureus, 2026

Exploring the significance of MDM2 gene promoter variants in chronic myeloid leukemia.

Fontecha MB et al.

Leukemia Research, 2025

A Systematic Review of the Prevalence of Germline BRCA mutations in North Asia Breast Cancer Patients.

Gervas P et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2024

Cancer Predisposition Syndromes and Thyroid Cancer: Keys for a Short Two-Way Street.

Balinisteanu I et al.

Biomedicines, 2023

Genetic susceptibility of bladder cancer in the Lebanese population.

Kourie HR et al.

Bmc Medical Genomics, 2022

36253817 (PubMed )
Supplement: 12920_2022_1372_MOESM2_ESM.xlsx › Literature_review_table

Li-Fraumeni Syndrome: Mutation of TP53 Is a Biomarker of Hereditary Predisposition to Tumor: New Insights and Advances in the Treatment.

Rocca V et al.

Cancers, 2022

Gene-to-gene interactions and the association of TP53, XRCC1, TNFα, HMMR, MDM2 and PALB2 with breast cancer in Kyrgyz females.

Isakova JT et al.

Breast Cancer (tokyo, Japan), 2020

Cumulative Evidence for Associations between Genetic Variants and Risk of Esophageal Cancer.

Li G et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2020

31969372 (PubMed )
Supplement: 10559965epi191281-sup-230715_3_supp_6000458_q3kstt.docx

The complementary effect of rs1042522 in TP53 and rs1805007 in MC1R is associated with an elevated risk of cutaneous melanoma in Latvian population.

Ozola A et al.

Oncology Letters, 2019

Genetic predisposition to lung cancer: comprehensive literature integration, meta-analysis, and multiple evidence assessment of candidate-gene association studies.

Wang J et al.

Scientific Reports, 2017

28827732 (PubMed )
Supplement: 41598_2017_7737_MOESM1_ESM.pdf

How gene polymorphisms can influence clinical response and toxicity following R-CHOP therapy in patients with diffuse large B cell lymphoma.

Falduto A et al.

Blood Reviews, 2017

Association of p53 rs1042522, MDM2 rs2279744, and p21 rs1801270 polymorphisms with retinoblastoma risk and invasion in a Chinese population.

Chen R et al.

Scientific Reports, 2015

Interaction between TP63 and MDM2 genes and the risk of recurrent pregnancy loss.

Fraga LR et al.

European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2014

p53 signaling pathway polymorphisms associated to recurrent pregnancy loss.

Fraga LR et al.

Molecular Biology Reports, 2014

Polymorphisms of p53 and MDM2 genes are associated with severe toxicities in patients with non-small cell lung cancer.

Zheng D et al.

Cancer Biology & Therapy, 2014

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Cooper DN et al.

Human Genetics, 2013

Maternal SNPs in the p53 pathway: risk factors for trisomy 21?

Boquett JA et al.

Disease Markers, 2013

Effect of the MDM2 promoter polymorphisms SNP309T>G and SNP285G>C on the risk of ovarian cancer in BRCA1 mutation carriers.

Bjørnslett M et al.

Bmc Cancer, 2012

p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma.

Epistolato MC et al.

Journal of Human Genetics, 2011

Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence.

Zhang B et al.

The Lancet. Oncology, 2011

Association between polymorphisms in cell cycle genes and advanced prostate carcinoma.

Kibel AS et al.

The Prostate, 2008

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."