|(A;A)||increased risk for lung cancer|
|(A;C)||increased risk for lung cancer|
A study of ~150 lung cancer patients in Sweden found that the rs1801279(A) allele, encoding the amino acid Arg at codon 31, represented the risk allele (odds ratio 1.7, CI: 1.0-2.9), compared to healthy individuals. The difference was even more striking when compared to patients with chronic obstructive pulmonary disease (COPD), in which case the odds ratio was over 5.[PMID 8807325][PMID 19505915] Association of Genetic Polymorphisms, mRNA Expression of p53 and p21 with Chronic Benzene Poisoning in a Chinese Occupational Population
[PMID 20126416] Identification of single nucleotide polymorphisms in the p21 (CDKN1A) gene and correlations with longevity in the Italian population
|Disease||CIP1/WAF1 TUMOR-ASSOCIATED POLYMORPHISM 1|
|CLNDBN||CIP1/WAF1 TUMOR-ASSOCIATED POLYMORPHISM 1|
|CLNSRC||OMIM Allelic Variant UniProtKB (protein)|
[PMID 15878916] Genetic polymorphisms of p21 are associated with risk of squamous cell carcinoma of the head and neck.
[PMID 16111488] Phosphorylation states of cell cycle and DNA repair proteins can be altered by the nsSNPs.
[PMID 17293864] A common coding variant in CASP8 is associated with breast cancer risk.
[PMID 17459456] A common variant of the p16(INK4a) genetic region is associated with physical function in older people.
[PMID 18174243] Association of single-nucleotide polymorphisms in the cell cycle genes with breast cancer in the British population.
[PMID 18191955] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.
[PMID 18805939] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.
[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 19258477] Candidate gene analysis using imputed genotypes: cell cycle single-nucleotide polymorphisms and ovarian cancer risk.
[PMID 19367277] Genetic polymorphisms in DNA repair and damage response genes and late normal tissue complications of radiotherapy for breast cancer.
[PMID 19750108] Decreased PM10 exposure attenuates age-related lung function decline: genetic variants in p53, p21, and CCND1 modify this effect.
[PMID 20127253] The role of TP53 and p21 gene polymorphisms in breast cancer biology in a well specified and characterized German cohort.
[PMID 20433229] P21(waf1/cip1) gene polymorphisms and possible interaction with cigarette smoking in esophageal squamous cell carcinoma in northeastern Iran: a preliminary study.
[PMID 20452958] Single-nucleotide polymorphisms in the p53 signaling pathway.
[PMID 20979563] MDM2 and CDKN1A gene polymorphisms and risk of Kaposi's sarcoma in African and Caucasian patients.
|qualified_impact||Insufficiently evaluated pathogenic|
|summary||Appears to be involved in tumor development, based on frequency of variant in tumor cell lines.|
[PMID 23231583] Association of p21 SNPs and risk of cervical cancer among Chinese women
[PMID 25565272] Polymorphisms of cell cycle control genes influence the development of sporadic medullary thyroid carcinoma