{{Rsnum
|rsid=1042522
|Gene=TP53
|Chromosome=17
|position=7676154
|Orientation=minus
|ReferenceAllele=C
|MissenseAllele=G
|GMAF=0.3981
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=TP53
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 9.2 | 29.2 | 61.5
| HCB | 20.0 | 57.8 | 22.2
| JPT | 22.7 | 36.4 | 40.9
| YRI | 45.2 | 43.5 | 11.3
| ASW | 0.0 | 0.0 | 0.0
| CHB | 20.0 | 57.8 | 22.2
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=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|19074170|OA=1
}}

Implicated in [[type-2 diabetes]] based on a study of 1,161 Finnish patients.{{PMID|18678618|OA=1
}}

*{{PMID|19193430}} [[rs2279744]], [[rs1042522]], [[rs17878362]] and [[rs1625895]] associated with high grade [[endometrial cancer]]

[http://blog.23andme.com/2009/04/01/snpwatch-genetic-variation-in-tumor-suppressor-may-predict-worse-outcome-for-african-american-colorectal-cancer-patients/ 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.

[http://blog.23andme.com/2009/04/09/baby-its-cold-outside-researchers-tie-variation-in-cancer-gene-to-winter-temperatures/ 23andMe blog] rs1042522(A) might have had an easier time conceiving in colder temperatures

{{doi|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|19367277|OA=1
}} 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.

{{omim
|desc=TP53 POLYMORPHISM
|id=191170
|rsnum=1042522
|variant=0005
}}

{{ neighbor
| rsid = 11540652
| distance = 1934
}}
{{ neighbor
| rsid = 28934873
| distance = 940
}}

{{Venter SNP
|rsid=1042522
|allele=C
|frequency=0.233
|uid=1103645273472
|type=heterozygous_SNP
|hugo=TP53
|ensembl gene=ENSG00000141510
|ensembl transcript=ENST00000269305
|sift=TOLERATED
|disease=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 Auto
|PMID=19423538
|Title=Common Genetic Variation in TP53 and Risk of Human Papillomavirus Persistence and Progression to CIN3/Cancer Revisited
|OA=1
}}
{{PMID Auto
|PMID=19471604
|Title=Lack of association between p53 gene polymorphisms and primary open angle glaucoma in the Japanese population
|OA=1
}}
{{PMID Auto
|PMID=19505915
|Title=Association of Genetic Polymorphisms, mRNA Expression of p53 and p21 with Chronic Benzene Poisoning in a Chinese Occupational Population
}}

{{PMID Auto
|PMID=19521721
|Title=Accelerated decline in lung function in cigarette smokers is associated with TP53/MDM2 polymorphisms
|OA=1
}}

{{PMID Auto
|PMID=19286843
|Title=Polymorphisms of DNA damage response genes in radiation-related and sporadic papillary thyroid carcinoma
}}
{{PMID Auto
|PMID=19707196
|Title=The TP53 Arg72Pro and MDM2 309G&gt;T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers
|OA=1
}}
{{PMID Auto
|PMID=19834951
|Title=The Li-Fraumeni syndrome (LFS): a model for the initiation of p53 signatures in the distal Fallopian tube
|OA=1
}}
{{PMID Auto
|PMID=19837266
|Title=TP53 R72P and MDM2 SNP309 polymorphisms in modification of childhood acute lymphoblastic leukemia susceptibility
}}

{{PharmGKB
|RSID=rs1042522
|Name_s=R72P; c.215C>G, mRNA 412C>G, p.Pro72Arg
|Gene_s=TP53
|Feature=Exon/NonSyn
|Evidence=PubMed ID:19837266
|Annotation=Risk or phenotype-associated allele: R72P non-wild type; unspecified; minor allele designation varies by ethnicity in dbSNP Phenotype: Childhood acute lymphoblastic leukemia (ALL) risk association with gene dosage effect (p = 0.002) resulting in a strong association of homozygous genotype (OR = 2.9) and no sex effect. Univariate analysis of disease association showed OR = 1.36 for heterozygote, OR = 3.31 for homozygous, versus homozygous wild type, in ALL, with P(trend) OR = 1.71, p = 0.002 using an additive model. Study size: 528. Study population/ethnicity: 114 cases childhood acute lymphoblastic leukemia (<=14 years) and 414 healthy newborn controls (1988 to 1999) from South Wales in the United Kingdom. Significance metric(s): p = 0.002, OR = 2.9 Type of association: CO
|Drugs=
|Drug Classes=
|Diseases=Precursor Cell Lymphoblastic Leukemia-Lymphoma
|Curation Level=Curated
|PharmGKB Accession ID=PA165110222
}}

{{PMID Auto
|PMID=20110284
|Title=Genotype and haplotype analysis of TP53 gene and the risk of pancreatic cancer: an association study in the Czech Republic
}}

{{PMID Auto
|PMID=20127253
|Title=The role of TP53 and p21 gene polymorphisms in breast cancer biology in a well specified and characterized German cohort
}}

{{PMID Auto
|PMID=20357201
|Title=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 Auto
|PMID=20512840
|Title=Association between TP53 gene ARG72PRO polymorphism and chromosome aberrations in human cancers
}}
{{PMID Auto
|PMID=20544687
|Title=Evidence that genetic variants of metabolic detoxication and cell cycle control are not related to gallbladder cancer risk in Chilean women
}}
{{PMID Auto
|PMID=20593380
|Title=p53 Pro72Arg polymorphism and prostate cancer in men of African descent
|OA=1
}}
{{PMID Auto
|PMID=20615891
|Title=TP53 Arg72Pro Polymorphism and Colorectal Cancer Risk: A Systematic Review and Meta-Analysis
}}

{{PharmGKB
|RSID=rs1042522
|Name_s=
|Gene_s=TP53
|Feature=Exon/NonSyn
|Evidence=PubMed ID:12824702; PubMed ID:17546594; PubMed ID:19339276
|Annotation=The p53 codon 72 polymorphism was found be associated with different cancers, like colorectal adenocarcinoma, gastric cancer, and prostate cancer.
|Drugs=
|Drug Classes=
|Diseases=Colorectal Neoplasms; Neoplasms; Prostatic Neoplasms; Stomach Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA163960891
}}

{{PharmGKB
|RSID=rs1042522
|Name_s=P53:Arg72Pro; TP53Arg72Pro; p52 codon 72
|Gene_s=TP53
|Feature=Exon/NonSyn
|Evidence=PubMed ID:18357466
|Annotation=Asian gastric cancer patients with TP53:Arg72Pro, Pro/Pro genotype had shorter survival following 5FU based treatments (n=110; OR overall survival = 2.581; OR relapse-free survival = 3.049).
|Drugs=fluorouracil
|Drug Classes=
|Diseases=Stomach Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA164918203
}}

{{PharmGKB
|RSID=rs1042522
|Name_s=TP53:Arg72Pro; TP53 Arg72Pro
|Gene_s=TP53
|Feature=Exon/NonSyn
|Evidence=PubMed ID:19786980
|Annotation=In a study of ovarian cancer patients (n=104) receiving a cisplatin-cyclophosphamide regimen, the TP53:72Pro/Pro (C/C) genotype was associated with severe neutropenia.
|Drugs=cisplatin; cyclophosphamide
|Drug Classes=
|Diseases=Neutropenia
|Curation Level=Curated
|PharmGKB Accession ID=PA165107199
}}

{{PharmGKB
|RSID=rs1042522
|Name_s=
|Gene_s=TP53
|Feature=Exon/NonSyn
|Evidence=PubMed ID:19837266
|Annotation=Risk or phenotype-associated allele: combined alleles of TP53 rs1042522 (R72P), and DAXX rs2073524; both alleles unspecified; for both alleles, minor allele designation varies by ethnicity in dbSNP. Phenotype: There was suggestive evidence for interaction between DAXX rs2073524 and TP53 rs1042522 (R72P) alleles in risk of childhood ALL for homozygous genotypes (p = 0.05). Disease risk association with TP53 rs1042522 (R72P) increased in the presence of the DAXX rs2073524 variant allele (OR per allele = 1.49, p = 0.005). This interaction was female-specific (OR per allele = 2.41, p = 0.004), where the risk conferred by TP53 rs1042522 (R72P) homozygosity was greater for girls carrying the wild-type MDM2 genotype (OR = 7.1, p = 0.02). Study size: 528. Study population/ethnicity: 114 cases childhood acute lymphoblastic leukemia (< or = 14 years) and 414 healthy newborn controls (1988 to 1999) from South Wales in the United Kingdom. Significance metric(s): OR = (1.49 to 7.1), p = (0.004 to 0.05) Type of association: CO
|Drugs=
|Drug Classes=
|Diseases=Precursor Cell Lymphoblastic Leukemia-Lymphoma
|Curation Level=Curated
|PharmGKB Accession ID=PA165110245
}}
{{PMID Auto
|PMID=20587610
|Title=Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection
}}
{{PMID Auto
|PMID=20232390
|Title=Genetic variations of DNA repair genes and their prognostic significance in patients with acute myeloid leukemia
}}

{{PMID Auto
|PMID=21790896
|Title=Genetic and environmental predictors, endogenous hormones and growth factors and risk of estrogen receptor-positive breast cancer in Japanese women
}}

{{PMID Auto
|PMID=21843334
|Title=TP53 and MDM2 gene polymorphisms and risk of hepatocellular carcinoma in Italian patients
|OA=1
}}

{{PMID Auto
|PMID=22184967
|Title=[Association analysis of polymorphic loci of TP53 and NFKB1 genes with human age and longevity]
}}

{{PMID Auto
|PMID=22189267
|Title=Codon 72 polymorphism (rs1042522) of TP53 is associated with changes in diastolic blood pressure over time
|OA=1
}}

{{PMID Auto
|PMID=22251423
|Title=NAMPT (visfatin) and AKT1 genetic variants associate with myocardial infarction
}}

{{PMID Auto
|PMID=22336942
|Title=Investigation of the Effect of MDM2 SNP309 and TP53 Arg72Pro Polymorphisms on the Age of Onset of Cutaneous Melanoma
}}

{{PMID Auto
|PMID=22417303
|Title=Infrequent p53 gene mutation but UV gradient-like p53 protein positivity in keloids
}}

{{PMID Auto
|PMID=22294769
|Title=Mutations and polymorphisms in TP53 gene--an overview on the role in colorectal cancer.
}}

{{PMID Auto
|PMID=21838531
|Title=Crosstalk between the FGFR2 and TP53 genes in breast cancer: data from an association study and epistatic interaction analysis
}}

{{PMID Auto
|PMID=22532853
|Title=How Contemporary Human Reproductive Behaviors Influence the Role of Fertility-Related Genes: The Example of the P53 Gene
|OA=1
}}

{{PMID Auto
|PMID=22076708
|Title=Validation of Genetic Sequence Variants as Prognostic Factors in Early-Stage Head and Neck Squamous Cell Cancer Survival
}}

{{ClinVar
|rsid=1042522
|Reversed=1
|FwdREF=C
|FwdALT=G
|REF=G
|ALT=C
|RSPOS=7579472
|CHROM=17
|GMAF=0.3979
|dbSNPBuildID=86
|SSR=0
|SAO=1
|VP=0x05017800000017051f110101
|GENEINFO=TP53:7157
|GENE_NAME=TP53
|GENE_ID=7157
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000017.10:g.7579472G>C
|CLNORIGIN=1
|CLNSIG=2
|Tags=RV;PM;TPA;PMC;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.3981; 0.6019
|CLNACC=RCV000013144.1; RCV000034639.1; RCV000079202.1
|CLNDBN=CODON 72 POLYMORPHISM, (rs1042522); not provided; AllHighlyPenetrant
|CLNSRC=Emory University; OMIM Allelic Variant
|CLNSRCID=2077; 191170.0005
|COMMON=1
|Disease=CODON 72 POLYMORPHISM; not provided; AllHighlyPenetrant
|CLNDSDB=MedGen
|CLNDSDBID=CN169374
}}

{{PMID Auto
|PMID=15450681
|Title=Tumor suppressor gene TP53 is genetically associated with schizophrenia in the Chinese population.
}}

{{PMID Auto
|PMID=15564288
|Title=Polymorphisms in XPD and TP53 and mutation in human lung cancer.
}}

{{PMID Auto
|PMID=16287156
|Title=Genetic polymorphisms in cell cycle regulatory genes MDM2 and TP53 are associated with susceptibility to lung cancer.
}}

{{PMID Auto
|PMID=16465622
|Title=Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.
|OA=1
}}

{{PMID Auto
|PMID=16857995
|Title=Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.
|OA=1
}}

{{PMID Auto
|PMID=17096406
|Title=Germ-line genetic variation of TP53 in osteosarcoma.
}}

{{PMID Auto
|PMID=17301252
|Title=Common genetic variation in TP53 is associated with lung cancer risk and prognosis in African Americans and somatic mutations in lung tumors.
}}

{{PMID Auto
|PMID=17428325
|Title=Common variants in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are unlikely to increase breast cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=17449902
|Title=Genetic variation in TP53 and risk of breast cancer in a population-based case control study.
}}

{{PMID Auto
|PMID=17537232
|Title=Association of TP53 codon 72 polymorphism and the outcome of adjuvant therapy in breast cancer patients.
|OA=1
}}

{{PMID Auto
|PMID=17624591
|Title=Genetic variation of TP53, polycyclic aromatic hydrocarbon-related exposures, and breast cancer risk among women on Long Island, New York.
}}

{{PMID Auto
|PMID=18191955
|Title=Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.
|OA=1
}}

{{PMID Auto
|PMID=18298806
|Title=Do genetic factors protect for early onset lung cancer? A case control study before the age of 50 years.
|OA=1
}}

{{PMID Auto
|PMID=18433491
|Title=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.
|OA=1
}}

{{PMID Auto
|PMID=18547414
|Title=Genotyping panel for assessing response to cancer chemotherapy.
|OA=1
}}

{{PMID Auto
|PMID=18640487
|Title=Association of donor inflammation- and apoptosis-related genotypes and delayed allograft function after kidney transplantation.
|OA=1
}}

{{PMID Auto
|PMID=18715757
|Title=Genetic associations with schizophrenia: meta-analyses of 12 candidate genes.
|OA=1
}}

{{PMID Auto
|PMID=18798306
|Title=Construction of a high resolution linkage disequilibrium map to evaluate common genetic variation in TP53 and neural tube defect risk in an Irish population.
|OA=1
}}

{{PMID Auto
|PMID=18805939
|Title=Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.
|OA=1
}}

{{PMID Auto
|PMID=18820009
|Title=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 Auto
|PMID=18854777
|Title=Germline genetic variations in drug action pathways predict clinical outcomes in advanced lung cancer treated with platinum-based chemotherapy.
|OA=1
}}

{{PMID Auto
|PMID=18978339
|Title=Large-scale evaluation of candidate genes identifies associations between DNA repair and genomic maintenance and development of benzene hematotoxicity.
|OA=1
}}

{{PMID Auto
|PMID=18990748
|Title=International Lung Cancer Consortium: pooled analysis of sequence variants in DNA repair and cell cycle pathways.
|OA=1
}}

{{PMID Auto
|PMID=19224585
|Title=Genotype and haplotype analysis of cell cycle genes in sporadic colorectal cancer in the Czech Republic.
}}

{{PMID Auto
|PMID=19237173
|Title=Bcl2 -938C/A polymorphism carries increased risk of biochemical recurrence after radical prostatectomy.
}}

{{PMID Auto
|PMID=19276375
|Title=Single nucleotide polymorphisms in the TP53 region and susceptibility to invasive epithelial ovarian cancer.
|OA=1
}}

{{PMID Auto
|PMID=19426493
|Title=A case-control study on the combined effects of p53 and p73 polymorphisms on head and neck cancer risk in an Italian population.
|OA=1
}}

{{PMID Auto
|PMID=19470478
|Title=Single-nucleotide polymorphisms in the p53 pathway regulate fertility in humans.
|OA=1
}}

{{PMID Auto
|PMID=19482343
|Title=Polymorphisms in HPV E6/E7 protein interacted genes and risk of cervical cancer in Chinese women: a case-control analysis.
}}

{{PMID Auto
|PMID=19542078
|Title=TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li-Fraumeni syndrome: impact on age at first diagnosis.
}}

{{PMID Auto
|PMID=19625214
|Title=TP53 codon 72 polymorphism and cervical cancer: a pooled analysis of individual data from 49 studies.
}}

{{PMID Auto
|PMID=19657586
|Title=Association study between P53 and P73 gene polymorphisms and the sporadic late-onset form of Alzheimer's disease.
}}

{{PMID Auto
|PMID=19750108
|Title=Decreased PM10 exposure attenuates age-related lung function decline: genetic variants in p53, p21, and CCND1 modify this effect.
|OA=1
}}

{{PMID Auto
|PMID=19784392
|Title=Primary open angle glaucoma in a Caucasian population is associated with the p53 codon 72 polymorphism.
|OA=1
}}

{{PMID Auto
|PMID=19822020
|Title=Genetic factors associated with intestinal metaplasia in a high risk Singapore-Chinese population: a cohort study.
|OA=1
}}

{{PMID Auto
|PMID=19911060
|Title=Persistence criteria for susceptibility genes for schizophrenia: a discussion from an evolutionary viewpoint.
|OA=1
}}

{{PMID Auto
|PMID=20003265
|Title=Extent of differential allelic expression of candidate breast cancer genes is similar in blood and breast.
|OA=1
}}

{{PMID Auto
|PMID=20436704
|Title=TP53 mutations in Korean patients with non-small cell lung cancer.
|OA=1
}}

{{PMID Auto
|PMID=20452958
|Title=Single-nucleotide polymorphisms in the p53 signaling pathway.
|OA=1
}}

{{PMID Auto
|PMID=20455025
|Title=Survey of familial glioma and role of germline p16INK4A/p14ARF and p53 mutation.
|OA=1
}}

{{PMID Auto
|PMID=20935061
|Title=A novel functional DEC1 promoter polymorphism -249T>C reduces risk of squamous cell carcinoma of the head and neck.
|OA=1
}}

{{PMID Auto
|PMID=21029772
|Title=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 Auto
|PMID=21115003
|Title=TP53 polymorphisms in gliomas from Indian patients: Study of codon 72 genotype, rs1642785, rs1800370 and 16 base pair insertion in intron-3.
}}

{{PMID Auto
|PMID=21146886
|Title=Association between polymorphisms in RAPGEF1, TP53, NRF1 and type 2 diabetes in Chinese Han population.
}}

{{PMID Auto
|PMID=21252575
|Title=TP53 codon 72 polymorphism is associated with coronary artery disease in Chilean subjects.
}}

{{PMID Auto
|PMID=21283750
|Title=Studies of the association of Arg72Pro of tumor suppressor protein p53 with type 2 diabetes in a combined analysis of 55,521 Europeans.
|OA=1
}}

{{PMID Auto
|PMID=21437228
|Title=Using epidemiology and genomics to understand osteosarcoma etiology.
|OA=1
}}

{{PMID Auto
|PMID=21708280
|Title=Candidate gene studies in gallbladder cancer: a systematic review and meta-analysis.
|OA=1
}}

{{PMID Auto
|PMID=21741128
|Title=TP53 Arg72Pro polymorphism in Turkish patients with sporadic amyotrophic lateral sclerosis.
}}

{{PMID Auto
|PMID=21810023
|Title=Coordination of TP53 abnormalities in breast cancer: data from analysis of TP53 polymorphisms, loss of heterozygosity, methylation, and mutations.
}}

{{PMID Auto
|PMID=21841506
|Title=Combined effect of genetic polymorphisms in P53, P73, and MDM2 on non-small cell lung cancer survival.
}}

{{PMID Auto
|PMID=21897271
|Title=Analysis of 4 single-nucleotide polymorphisms in relation to cervical dysplasia and cancer development using a high-throughput ligation-detection reaction procedure.
}}

{{PMID Auto
|PMID=22178231
|Title=Polymorphisms of TP53 are markers of bladder cancer vulnerability and prognosis.
}}

{{GET Evidence
|gene=TP53
|aa_change=Pro72Arg
|aa_change_short=P72R
|impact=pathogenic
|qualified_impact=Low clinical importance, Uncertain pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1042522
|overall_frequency_n=6752
|overall_frequency_d=10756
|overall_frequency=0.627743
|n_genomes=62
|n_genomes_annotated=0
|n_haplomes=91
|n_articles=6
|n_articles_annotated=5
|qualityscore_in_silico=3
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=1
|qualitycomment_in_vitro=Y
|qualityscore_case_control=0
|qualitycomment_case_control=Y
|qualityscore_severity=0
|qualitycomment_severity=Y
|qualityscore_treatability=0
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|in_omim=Y
|in_pharmgkb=Y
|pph2_score=0.127
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=5
|autoscore=4
|webscore=N
|n_web_uneval=9
|variant_evidence=0
|clinical_importance=0
|summary_short=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 Auto
|PMID=23192612
|Title=Association of common WRAP 53 variant with ovarian cancer risk in the Polish population
|OA=1
}}

{{PMID Auto
|PMID=23207172
|Title=The p53 Codon 72 Polymorphism (rs1042522) is Associated with Proliferative Vitreoretinopathy: The Retina 4 Project
}}

{{PMID Auto
|PMID=23210739
|Title=Association of MDM2 and p53 Polymorphisms with the Advancement of Cervical Carcinoma
}}

{{PMID Auto
|PMID=23269546
|Title=The p53 codon 72 (Arg72Pro) polymorphism is associated with the degree of insulin resistance in type 2 diabetic subjects: a cross-sectional study
}}

{{PMID Auto
|PMID=23441193
|Title=Accuracy of p53 Codon 72 Polymorphism Status Determined by Multiple Laboratory Methods: A Latent Class Model Analysis
|OA=1
}}

{{PMID Auto
|PMID=23534750
|Title=Polymorphisms in TP53 (rs1042522), p16 (rs11515 and rs3088440) and NQO1 (rs1800566) Genes in Thai Cervical Cancer Patients with HPV 16 Infection
}}

{{PMID Auto
|PMID=23632240
|Title=Promoter polymorphisms of pri-miR-34b/c are associated with hepatocellular carcinoma
}}

{{PMID Auto
|PMID=23653000
|Title=CXCL12 and TP53 genetic polymorphisms as markers of susceptibility in a Brazilian children population with acute lymphoblastic leukemia (ALL)
}}

{{PMID Auto
|PMID=23744327
|Title=[Association of P53 gene polymorphisms with susceptibility to endometriosis]
}}

{{PMID Auto
|PMID=23360829
|Title=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 Auto
|PMID=23837945
|Title=Association of p53 and MDM2 polymorphisms with risk of human papillomavirus (HPV)-related esophageal squamous cell carcinoma (ESCC)
}}

{{PMID Auto
|PMID=23906684
|Title=Genetic associations with coronary heart disease: Meta-analyses of 12 candidate genetic variants
}}

{{PMID Auto
|PMID=23936089
|Title=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
|OA=1
}}

{{PMID Auto
|PMID=24084248
|Title=The GSTM1null (deletion) and MGMT84 rs12917 (Phe/Phe) haplotype are associated with bulky DNA adduct levels in human leukocytes
}}

{{PMID Auto
|PMID=24115240
|Title=TP53 rs1042522 SNP in salivary gland neoplasms
}}

{{PMID Auto
|PMID=24175836
|Title=P53 Arg72Pro and MDM2 SNP309 Polymorphisms Cooperate to Increase Lung Adenocarcinoma Risk in Chinese Female Non-smokers: A Case Control Study
}}

{{PMID Auto
|PMID=24316395
|Title=Common Genetic Variants in 53BP1 Associated with Non-small Cell Lung Cancer Risk in Han Chinese
}}

{{PMID Auto
|PMID=24324286
|Title=Investigation of genetic polymorphisms related to the outcome of radiotherapy for prostate cancer patients
|OA=1
}}

{{PMID Auto
|PMID=24326769
|Title=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 Auto
|PMID=24349246
|Title=The T309G MDM2 Gene Polymorphism Is a Novel Risk Factor for Proliferative Vitreoretinopathy
|OA=1
}}

{{PMID Auto
|PMID=24369748
|Title=TP53 genetic polymorphisms, interactions with lifestyle factors and lung cancer risk: a case control study in a Chinese population
|OA=1
}}

{{PMID Auto
|PMID=24370206
|Title=Risk genes in head and neck cancer: A systematic review and meta-analysis of last 5years
}}

{{PMID Auto
|PMID=22773013
|Title=Genetic variants in TP53 and MDM2 associated with male infertility in Chinese population.
|OA=1
}}

{{PMID Auto
|PMID=22892830
|Title=Role of p53 codon 72 polymorphism in chromosomal aberrations and mitotic index in patients with chronic hepatitis B.
|OA=1
}}

{{PMID Auto
|PMID=23124483
|Title=Correlation of telomere length shortening with TP53 somatic mutations, polymorphisms and allelic loss in breast tumors and esophageal cancer.
}}

{{PMID Auto
|PMID=23125046
|Title=TP53*P72 allele influences negatively female life expectancy in a population of central Italy: cross-sectional study and genetic-demographic approach analysis.
}}

{{PMID Auto
|PMID=23311506
|Title=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 Auto
|PMID=23423487
|Title=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 Auto
|PMID=23729685
|Title=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 Auto
|PMID=24818791
|Title=Genetic Variation in the TP53 Pathway and Bladder Cancer Risk. A Comprehensive Analysis
|OA=1
}}

{{PMID Auto
|PMID=24863946
|Title=No evidence of correlation between p53 codon 72 G &gt; C gene polymorphism and cancer risk in Indian population: a meta-analysis
}}

{{PMID Auto
|PMID=24935583
|Title=Association of the rs1042522 Polymorphism with Increased Risk of Prostate Adenocarcinoma in the Pakistani Population and its HuGE Review
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}