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From SNPedia

Geno Mag Summary
(C;C) 3 Live 3 years longer. Chemotherapy is more effective.
(C;G) 2 Slightly increased lifespan?
(G;G) 2 Common variant. Slightly shorter lifespan.
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
1000 genomesrs1042522
23andMe allrs1042522
SNP Nexus

GWAS Ctlgrs1042522
Max Magnitude3
? (C;C) (C;G) (G;G) 28
This SNP, a variant in the TP53 gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for breast cancer. [PMID 17341484]

For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry.

For this particular SNP, the G allele encodes an arginine at position 72 of the protein (where there's normally a proline), and the SNP is commonly called the Arg72 variant, although P72R and Arg72Pro are also common in the literature.

[PMID 18256523] Minor allele homozygotes, i.e. rs1042522(C;C) genotypes, live on average 3 years longer than major allele (G;G) homozygotes, based on a study of 9,200+ Danish individuals. The increased longevity is speculated to be related to the increased apoptosis seen for this gain of function SNP, presumably due to "increased robustness" during the period of treatment after the diagnosis of life-threatening diseases such as cancer of certain types.

A study of 148 individuals with advanced nonsmall cell lung cancer (NSCLC) concluded rs1042522(G;G) genotypes were more likely to be resistant to first-line chemotherapy, especially the irinotecan plus cisplatin regimen, than those with (C;G) or (C;C) genotypes (60% vs 27%, p = .014). In multivariate analysis, the (G;G) genotype was strongly predictive for shorter progression-free survival (PFS) (hazard ratio [HR] = 1.952, p = .01).[PMID 18618574]

A study of 57 patients with advanced gastric cancer treated with paclitaxel and cisplatin combination chemotherapy found that rs1042522(G;G) and rs1042522(C;G) genotypes were significantly correlated with a lower response rate (and worse progression) to the combination chemotherapy when compared to rs1042522(C;C) homozygotes (35.7 vs. 66.7%, p-value 0.019).[PMID 19052714]

rs1042522 is not associated with SLE in a study of Caucasians, African-Americans, and Asian children and adults.[PMID 19074170OA-icon.png]

Implicated in type-2 diabetes based on a study of 1,161 Finnish patients.[PMID 18678618OA-icon.png]

23andMe blog African Americans with rs1042522(G;G) in the p53 gene were 2.15 times more likely to die of colorectal cancer than those with one or no copies of a G at this SNP. In Caucasians there was no association between survival and rs1042522.

23andMe blog rs1042522(C) might have had an easier time conceiving in colder temperatures

10.1073/pnas.0904280106 The P72 allele was found to be significantly enriched over the R72 allele among in vitro fertilization (IVF) patients. The P72 allele serves as a risk factor for implantation failure. LIF levels are significantly lower in cells with the P72 allele than in cells with the R72 allele, which may contribute to the decreased implantation and fertility associated with the P72 allele.

[PMID 19367277OA-icon.png] Patients with variant TP53 genotypes either for the Arg72Pro or the PIN3 polymorphism were at increased risk of telangiectasia, a late skin side effect of radiotherapy following breast-conserving surgery. Odds ratios were 1.66 for 72Pro carriers and 1.95 for PIN3 A2 allele carriers. Carrying both variant alleles led to a doubling of risk.


Venter snp
Source plos
Gene TP53
allele C
frequency 0.233
HuRef 1103645273472
Disease Association Defects in TP53 are a cause of choroid plexus papilloma (MIM:260500). Choroid plexus papilloma is a slow-growing benign tumor of the choroid plexus that often invades the leptomeninges. In children it is usually in a lateral ventricle but in adults it is more often in the fourth ventricle. Hydrocephalus is common, either from obstruction or from tumor secretion of cerebrospinal fluid. If it undergoes malignant transformation it is called a choroid plexus carcinoma. Primary choroid plexus tumors are rare and usually occur in early childhood.

[PMID 19423538OA-icon.png] Common Genetic Variation in TP53 and Risk of Human Papillomavirus Persistence and Progression to CIN3/Cancer Revisited

[PMID 19471604OA-icon.png] Lack of association between p53 gene polymorphisms and primary open angle glaucoma in the Japanese population

[PMID 19505915] Association of Genetic Polymorphisms, mRNA Expression of p53 and p21 with Chronic Benzene Poisoning in a Chinese Occupational Population

[PMID 19521721OA-icon.png] Accelerated decline in lung function in cigarette smokers is associated with TP53/MDM2 polymorphisms

[PMID 19286843] Polymorphisms of DNA damage response genes in radiation-related and sporadic papillary thyroid carcinoma

[PMID 19707196OA-icon.png] The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

[PMID 19834951OA-icon.png] The Li-Fraumeni syndrome (LFS): a model for the initiation of p53 signatures in the distal Fallopian tube

[PMID 19837266] TP53 R72P and MDM2 SNP309 polymorphisms in modification of childhood acute lymphoblastic leukemia susceptibility

[PMID 20110284] Genotype and haplotype analysis of TP53 gene and the risk of pancreatic cancer: an association study in the Czech Republic

[PMID 20127253] The role of TP53 and p21 gene polymorphisms in breast cancer biology in a well specified and characterized German cohort

[PMID 20357201] Association of Polymorphisms of Tumor Necrosis Factor and Tumor Protein p53 with Primary Open Angle Glaucoma: A Replication Study of Ten Genes in A Chinese Population

[PMID 20512840] Association between TP53 gene ARG72PRO polymorphism and chromosome aberrations in human cancers

[PMID 20544687] Evidence that genetic variants of metabolic detoxication and cell cycle control are not related to gallbladder cancer risk in Chilean women

[PMID 20593380OA-icon.png] p53 Pro72Arg polymorphism and prostate cancer in men of African descent

[PMID 20615891] TP53 Arg72Pro Polymorphism and Colorectal Cancer Risk: A Systematic Review and Meta-Analysis

[PMID 20587610] Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection

[PMID 20232390] Genetic variations of DNA repair genes and their prognostic significance in patients with acute myeloid leukemia

[PMID 21790896] Genetic and environmental predictors, endogenous hormones and growth factors and risk of estrogen receptor-positive breast cancer in Japanese women

[PMID 21843334OA-icon.png] TP53 and MDM2 gene polymorphisms and risk of hepatocellular carcinoma in Italian patients

[PMID 22184967] [Association analysis of polymorphic loci of TP53 and NFKB1 genes with human age and longevity]

[PMID 22189267OA-icon.png] Codon 72 polymorphism (rs1042522) of TP53 is associated with changes in diastolic blood pressure over time

[PMID 22251423] NAMPT (visfatin) and AKT1 genetic variants associate with myocardial infarction

[PMID 22336942] Investigation of the Effect of MDM2 SNP309 and TP53 Arg72Pro Polymorphisms on the Age of Onset of Cutaneous Melanoma

[PMID 22417303] Infrequent p53 gene mutation but UV gradient-like p53 protein positivity in keloids

[PMID 22294769] Mutations and polymorphisms in TP53 gene--an overview on the role in colorectal cancer.

[PMID 21838531] Crosstalk between the FGFR2 and TP53 genes in breast cancer: data from an association study and epistatic interaction analysis

[PMID 22532853OA-icon.png] How Contemporary Human Reproductive Behaviors Influence the Role of Fertility-Related Genes: The Example of the P53 Gene

[PMID 22076708] Validation of Genetic Sequence Variants as Prognostic Factors in Early-Stage Head and Neck Squamous Cell Cancer Survival

Risk rs1042522(A,G;A,G)
Alt rs1042522(A,G;A,G)
Reference rs1042522(C;C)
Significance Drug-response
Disease not specified CODON 72 POLYMORPHISM not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 paclitaxel response - Efficacy cyclophosphamide response - Efficacy antineoplastic agents response - Efficacy fluorouracil response - Efficacy cisplatin response - Efficacy Li-Fraumeni syndrome
Variation info
Gene TP53
CLNDBN not specified CODON 72 POLYMORPHISM, (rs1042522) not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 paclitaxel response - Efficacy, Toxicity/ADR cyclophosphamide response - Efficacy, Toxicity/ADR antineoplastic agents response - Efficacy, Toxicity/ADR fluorouracil response - Efficacy, Toxicity/ADR cisplatin response - Efficacy, Toxicity/ADR Li-Fraumeni syndrome
Reversed 1
HGVS NC_000017.10:g.7579472G\x3d; NC_000017.10:g.7579472G>C; NC_000017.10:g.7579472G>T
CLNSRC Inc. HGMD OMIM Allelic Variant PharmGKB Clinical Annotation PharmGKB
CLNACC RCV000152112.1, RCV000013144.2, RCV000034639.1, RCV000079202.5, RCV000132165.3, RCV000144668.1, RCV000211157.1, RCV000211212.1, RCV000211311.1, RCV000211338.1, RCV000211395.1, RCV000164487.1, RCV000227427.1,

[PMID 15450681] Tumor suppressor gene TP53 is genetically associated with schizophrenia in the Chinese population.

[PMID 15564288] Polymorphisms in XPD and TP53 and mutation in human lung cancer.

[PMID 16287156] Genetic polymorphisms in cell cycle regulatory genes MDM2 and TP53 are associated with susceptibility to lung cancer.

[PMID 16465622OA-icon.png] Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.

[PMID 16857995OA-icon.png] Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.

[PMID 17096406] Germ-line genetic variation of TP53 in osteosarcoma.

[PMID 17301252] Common genetic variation in TP53 is associated with lung cancer risk and prognosis in African Americans and somatic mutations in lung tumors.

[PMID 17428325OA-icon.png] Common variants in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are unlikely to increase breast cancer risk.

[PMID 17449902] Genetic variation in TP53 and risk of breast cancer in a population-based case control study.

[PMID 17537232OA-icon.png] Association of TP53 codon 72 polymorphism and the outcome of adjuvant therapy in breast cancer patients.

[PMID 17624591] Genetic variation of TP53, polycyclic aromatic hydrocarbon-related exposures, and breast cancer risk among women on Long Island, New York.

[PMID 18191955OA-icon.png] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.

[PMID 18298806OA-icon.png] Do genetic factors protect for early onset lung cancer? A case control study before the age of 50 years.

[PMID 18433491OA-icon.png] MDM2 gene SNP309 T/G and p53 gene SNP72 G/C do not influence diffuse large B-cell non-Hodgkin lymphoma onset or survival in central European Caucasians.

[PMID 18547414OA-icon.png] Genotyping panel for assessing response to cancer chemotherapy.

[PMID 18640487OA-icon.png] Association of donor inflammation- and apoptosis-related genotypes and delayed allograft function after kidney transplantation.

[PMID 18715757OA-icon.png] Genetic associations with schizophrenia: meta-analyses of 12 candidate genes.

[PMID 18798306OA-icon.png] Construction of a high resolution linkage disequilibrium map to evaluate common genetic variation in TP53 and neural tube defect risk in an Irish population.

[PMID 18805939OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.

[PMID 18820009] Possible difference in frequencies of genetic polymorphisms of estrogen receptor alpha, estrogen metabolism and P53 genes between estrogen receptor-positive and -negative breast cancers.

[PMID 18854777OA-icon.png] Germline genetic variations in drug action pathways predict clinical outcomes in advanced lung cancer treated with platinum-based chemotherapy.

[PMID 18978339OA-icon.png] Large-scale evaluation of candidate genes identifies associations between DNA repair and genomic maintenance and development of benzene hematotoxicity.

[PMID 18990748OA-icon.png] International Lung Cancer Consortium: pooled analysis of sequence variants in DNA repair and cell cycle pathways.

[PMID 19224585] Genotype and haplotype analysis of cell cycle genes in sporadic colorectal cancer in the Czech Republic.

[PMID 19237173] Bcl2 -938C/A polymorphism carries increased risk of biochemical recurrence after radical prostatectomy.

[PMID 19276375OA-icon.png] Single nucleotide polymorphisms in the TP53 region and susceptibility to invasive epithelial ovarian cancer.

[PMID 19426493OA-icon.png] A case-control study on the combined effects of p53 and p73 polymorphisms on head and neck cancer risk in an Italian population.

[PMID 19470478OA-icon.png] Single-nucleotide polymorphisms in the p53 pathway regulate fertility in humans.

[PMID 19482343] Polymorphisms in HPV E6/E7 protein interacted genes and risk of cervical cancer in Chinese women: a case-control analysis.

[PMID 19542078] TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li-Fraumeni syndrome: impact on age at first diagnosis.

[PMID 19625214] TP53 codon 72 polymorphism and cervical cancer: a pooled analysis of individual data from 49 studies.

[PMID 19657586] Association study between P53 and P73 gene polymorphisms and the sporadic late-onset form of Alzheimer's disease.

[PMID 19750108OA-icon.png] Decreased PM10 exposure attenuates age-related lung function decline: genetic variants in p53, p21, and CCND1 modify this effect.

[PMID 19784392OA-icon.png] Primary open angle glaucoma in a Caucasian population is associated with the p53 codon 72 polymorphism.

[PMID 19822020OA-icon.png] Genetic factors associated with intestinal metaplasia in a high risk Singapore-Chinese population: a cohort study.

[PMID 19911060OA-icon.png] Persistence criteria for susceptibility genes for schizophrenia: a discussion from an evolutionary viewpoint.

[PMID 20003265OA-icon.png] Extent of differential allelic expression of candidate breast cancer genes is similar in blood and breast.

[PMID 20436704OA-icon.png] TP53 mutations in Korean patients with non-small cell lung cancer.

[PMID 20452958OA-icon.png] Single-nucleotide polymorphisms in the p53 signaling pathway.

[PMID 20455025OA-icon.png] Survey of familial glioma and role of germline p16INK4A/p14ARF and p53 mutation.

[PMID 20935061OA-icon.png] A novel functional DEC1 promoter polymorphism -249T>C reduces risk of squamous cell carcinoma of the head and neck.

[PMID 21029772] Genomic DNA extraction from whole blood stored from 15- to 30-years at -20 degrees C by rapid phenol-chloroform protocol: a useful tool for genetic epidemiology studies.

[PMID 21115003] TP53 polymorphisms in gliomas from Indian patients: Study of codon 72 genotype, rs1642785, rs1800370 and 16 base pair insertion in intron-3.

[PMID 21146886] Association between polymorphisms in RAPGEF1, TP53, NRF1 and type 2 diabetes in Chinese Han population.

[PMID 21252575] TP53 codon 72 polymorphism is associated with coronary artery disease in Chilean subjects.

[PMID 21283750OA-icon.png] Studies of the association of Arg72Pro of tumor suppressor protein p53 with type 2 diabetes in a combined analysis of 55,521 Europeans.

[PMID 21437228OA-icon.png] Using epidemiology and genomics to understand osteosarcoma etiology.

[PMID 21708280OA-icon.png] Candidate gene studies in gallbladder cancer: a systematic review and meta-analysis.

[PMID 21741128] TP53 Arg72Pro polymorphism in Turkish patients with sporadic amyotrophic lateral sclerosis.

[PMID 21810023] Coordination of TP53 abnormalities in breast cancer: data from analysis of TP53 polymorphisms, loss of heterozygosity, methylation, and mutations.

[PMID 21841506] Combined effect of genetic polymorphisms in P53, P73, and MDM2 on non-small cell lung cancer survival.

[PMID 21897271] Analysis of 4 single-nucleotide polymorphisms in relation to cervical dysplasia and cancer development using a high-throughput ligation-detection reaction procedure.

[PMID 22178231] Polymorphisms of TP53 are markers of bladder cancer vulnerability and prognosis.

GET Evidence
aa_change Pro72Arg
aa_change_short P72R
impact pathogenic
qualified_impact Low clinical importance, Uncertain pathogenic
overall_frequency 0.627743
summary This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.

[PMID 23192612OA-icon.png] Association of common WRAP 53 variant with ovarian cancer risk in the Polish population

[PMID 23207172] The p53 Codon 72 Polymorphism (rs1042522) is Associated with Proliferative Vitreoretinopathy: The Retina 4 Project

[PMID 23210739] Association of MDM2 and p53 Polymorphisms with the Advancement of Cervical Carcinoma

[PMID 23269546] The p53 codon 72 (Arg72Pro) polymorphism is associated with the degree of insulin resistance in type 2 diabetic subjects: a cross-sectional study

[PMID 23441193OA-icon.png] Accuracy of p53 Codon 72 Polymorphism Status Determined by Multiple Laboratory Methods: A Latent Class Model Analysis

[PMID 23534750] Polymorphisms in TP53 (rs1042522), p16 (rs11515 and rs3088440) and NQO1 (rs1800566) Genes in Thai Cervical Cancer Patients with HPV 16 Infection

[PMID 23632240] Promoter polymorphisms of pri-miR-34b/c are associated with hepatocellular carcinoma

[PMID 23653000] CXCL12 and TP53 genetic polymorphisms as markers of susceptibility in a Brazilian children population with acute lymphoblastic leukemia (ALL)

[PMID 23744327] [Association of P53 gene polymorphisms with susceptibility to endometriosis]

[PMID 23360829] Association between polymorphisms in the genes for tumor suppressor protein p53 and its regulator NAD(P)H: quinone oxidoreductase 1 (NQO1) and schizophrenia in a Syrian study cohort

[PMID 23837945] Association of p53 and MDM2 polymorphisms with risk of human papillomavirus (HPV)-related esophageal squamous cell carcinoma (ESCC)

[PMID 23906684] Genetic associations with coronary heart disease: Meta-analyses of 12 candidate genetic variants

[PMID 23936089OA-icon.png] Polymorphisms in DNA-Repair Genes in a Cohort of Prostate Cancer Patients from Different Areas in Spain: Heterogeneity between Populations as a Confounding Factor in Association Studies

[PMID 24084248] The GSTM1null (deletion) and MGMT84 rs12917 (Phe/Phe) haplotype are associated with bulky DNA adduct levels in human leukocytes

[PMID 24115240] TP53 rs1042522 SNP in salivary gland neoplasms

[PMID 24175836] P53 Arg72Pro and MDM2 SNP309 Polymorphisms Cooperate to Increase Lung Adenocarcinoma Risk in Chinese Female Non-smokers: A Case Control Study

[PMID 24316395] Common Genetic Variants in 53BP1 Associated with Non-small Cell Lung Cancer Risk in Han Chinese

[PMID 24324286OA-icon.png] Investigation of genetic polymorphisms related to the outcome of radiotherapy for prostate cancer patients

[PMID 24326769] The association between polymorphism of P53 Codon72 Arg/Pro and hepatocellular carcinoma susceptibility: evidence from a meta-analysis of 15 studies with 3,704 cases

[PMID 24349246OA-icon.png] The T309G MDM2 Gene Polymorphism Is a Novel Risk Factor for Proliferative Vitreoretinopathy

[PMID 24369748OA-icon.png] TP53 genetic polymorphisms, interactions with lifestyle factors and lung cancer risk: a case control study in a Chinese population

[PMID 24370206] Risk genes in head and neck cancer: A systematic review and meta-analysis of last 5years

[PMID 22773013OA-icon.png] Genetic variants in TP53 and MDM2 associated with male infertility in Chinese population.

[PMID 22892830OA-icon.png] Role of p53 codon 72 polymorphism in chromosomal aberrations and mitotic index in patients with chronic hepatitis B.

[PMID 23124483] Correlation of telomere length shortening with TP53 somatic mutations, polymorphisms and allelic loss in breast tumors and esophageal cancer.

[PMID 23125046] TP53*P72 allele influences negatively female life expectancy in a population of central Italy: cross-sectional study and genetic-demographic approach analysis.

[PMID 23311506] The association of a variant in the cell cycle control gene CCND1 and obesity on the development of asthma in the Swiss SAPALDIA study.

[PMID 23423487] Effect of TP53 codon 72 and MDM2 SNP309 polymorphisms on survival of gastric cancer among patients who receiving 5-fluorouracil-based postoperative adjuvant chemotherapy.

[PMID 23729685OA-icon.png] Genotype misclassification in genetic association studies of the rs1042522 TP53 (Arg72Pro) polymorphism: a systematic review of studies of breast, lung, colorectal, ovarian, and endometrial cancer.

[PMID 24818791OA-icon.png] Genetic Variation in the TP53 Pathway and Bladder Cancer Risk. A Comprehensive Analysis

[PMID 24863946] No evidence of correlation between p53 codon 72 G > C gene polymorphism and cancer risk in Indian population: a meta-analysis

[PMID 24935583] Association of the rs1042522 Polymorphism with Increased Risk of Prostate Adenocarcinoma in the Pakistani Population and its HuGE Review

[PMID 25479941] Genetic association of single nucleotide polymorphisms in P53 pathway with gastric cancer risk in a Chinese Han population

[PMID 25693086] The relationship of TP53 and GRIN2B gene polymorphisms with risk of occurrence and progression of primary open-angle glaucoma in a Polish population

[PMID 25734904OA-icon.png] Impact of TP53 Codon 72 and MDM2 SNP 309 Polymorphisms in Pancreatic Ductal Adenocarcinoma

[PMID 26305668] The Relationship between Vascular Endothelial Growth Factor 1154G/A Polymorphism and Recurrent Implantation Failure

[PMID 26451011] Systematic meta-analyses and field synopsis of genetic association studies in colorectal adenomas

[PMID 25316267OA-icon.png] TP53 and MDM2 polymorphisms and the risk of endometrial cancer in postmenopausal women

[PMID 27248495] Study of Association between Pre-Senile Cataracts and the Polymorphisms rs2228000 in XPC and rs1042522 in p53 in Spanish Population.

[PMID 27436625] The Arg72 variant of the p53 functional polymorphism (rs1042522) is associated with coronary artery disease in young South Africans of Indian ancestry.

[PMID 27755861] Association of EGF, IGFBP-3 and TP53 Gene Polymorphisms with Major Depressive Disorder in Slovak Population.