What you carry at this position in your DNA and what research says about it.
Cancer Susceptibility: 10/10 evidence, 65 publications.
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Sample genotype (not yours): T/T
Typical Cancer Risk
Two copies of the common T allele are present. This genotype is associated with normal p53 protein production and typical baseline risks for various cancers.
What this genotype means: Typical p53 tumor suppressor levels; Baseline risk for glioma and skin cancers; Typical blood pressure levels.
Sample genotype (not yours): G/G
Increased Risk for Certain Cancers
Two copies of the rare G allele are present, which significantly impairs TP53 mRNA processing. This genotype is associated with an increased risk of developing glioma, skin cancer, and prostate cancer.
What this genotype means: Reduced p53 tumor suppressor levels; Elevated risk of glioma and skin cancers; Slightly higher diastolic blood pressure.
Sample genotype (not yours): T/G
One copy of the rare G allele is present, which impairs TP53 mRNA processing. This genotype is associated with an increased risk of developing glioma, skin cancer, and prostate cancer.
Gene function and biological role
Gene Function: The TP53 gene encodes tumor protein p53, often referred to as the guardian of the genome [1]. This crucial protein acts as a tumor suppressor by regulating cell division and preventing cells from growing and dividing too rapidly [1]. When DNA damage occurs, p53 determines whether the cell will repair the damage or undergo programmed cell death [1]. Proper functioning of this gene is essential for preventing the initiation and progression of various cancers [1].
Variant Impact: Located in the 3' untranslated region of the TP53 gene, rs78378222 represents a crucial regulatory change [1]. The genetic alteration changes the highly conserved polyadenylation signal from AATAAA to AATACA [1]. This specific change impairs the proper processing and termination of the TP53 messenger RNA transcript [1]. Consequently, cells produce lower levels of the functional p53 tumor suppressor protein, which reduces their ability to trigger cell death in damaged cells [1].
Key Insight: This variant does not alter the amino acid sequence of the p53 protein itself, but instead reduces its overall abundance by disrupting the genetic signal that tells the cell when to stop reading the gene.
Location: TP53. Chromosome 17 · 17p13.1 · 7.7 Mb
Estimated prevalence by population
Global 98.4%; European 97.4%; African 99.6%; East Asian 100.0%; South Asian 100.0%; Americas 99.5%; Ashkenazi 99.8%; Finnish 96.5%; Middle Eastern 100.0%; Amish 100.0%.
Estimated TT genotype frequency.
Global 1.6%; European 2.6%; African 0.4%; East Asian 0.0%; South Asian 0.0%; Americas 0.5%; Ashkenazi 0.2%; Finnish 3.5%; Middle Eastern 0.0%; Amish 0.0%.
Estimated TG genotype frequency.
Global < 0.1%; European < 0.1%; African < 0.1%; East Asian 0.0%; South Asian 0.0%; Americas < 0.1%; Ashkenazi < 0.1%; Finnish < 0.1%; Middle Eastern 0.0%; Amish 0.0%.
Estimated GG genotype frequency.
Showing effects for T/T genotype
Cancer & Oncology
Brain & Nervous System Cancers
Glioma. Evidence: 7/10. Source: PMID 22706378. Typical Risk.
Skin Cancer
Basal Cell Carcinoma. Evidence: 9/10. Source: PMID 21946351. Typical Risk.
Melanoma. Evidence: 8/10. Source: PMID 32341527. Typical Risk.
Prostate Cancer
Prostate Cancer. Evidence: 9/10. Source: PMID 33398198. Typical Risk.
Endocrine & Reproductive
Female Reproductive Health & Fertility
Uterine Fibroids. Evidence: 10/10. Source: PMID 30194396. Typical Risk.
Cardiovascular & Metabolic
Hypertension
Diastolic Blood Pressure. Evidence: 10/10. Source: PMID 38689001. Typical.
Showing effects for G/G genotype
Glioma. Evidence: 7/10. Source: PMID 22706378. ~2.8x Risk.
Basal Cell Carcinoma. Evidence: 9/10. Source: PMID 21946351. Increased Risk.
Melanoma. Evidence: 8/10. Source: PMID 32341527. Increased Risk.
Prostate Cancer. Evidence: 9/10. Source: PMID 33398198. ~1.25x Risk.
Uterine Fibroids. Evidence: 10/10. Source: PMID 30194396. Increased Risk.
Diastolic Blood Pressure. Evidence: 10/10. Source: PMID 38689001. +2.08 mmHg.
Showing effects for T/G genotype
Glioma. Evidence: 7/10. Source: PMID 22706378. ~2.5x Risk.
Diastolic Blood Pressure. Evidence: 10/10. Source: PMID 38689001. +1.04 mmHg.
What this genotype means for the people who carry it
Sample genotype: TT (Homozygous)
Normal processing of the TP53 gene occurs when the common T/T genotype is present [1]. This allows cells to process and terminate TP53 messenger RNA normally, maintaining stable levels of the p53 tumor suppressor protein [1]. As a result, there is no elevated risk for glioma, basal cell carcinoma, or prostate cancer associated with this specific locus. Additionally, blood pressure and red blood cell measurements are expected to be within typical ranges [2].
Typical p53 tumor suppressor levels; Baseline risk for glioma and skin cancers; Typical blood pressure levels.
Sample genotype: GG (Homozygous)
Two copies of the rare G allele significantly alter the polyadenylation signal of the TP53 gene [1]. This homozygous state leads to impaired processing of the mRNA transcript, resulting in reduced levels of the p53 tumor suppressor protein [1]. The reduction in this vital guardian protein compromises the cellular response to DNA damage [1]. As a result, the risk for several tumor types is elevated, including a 2.5-fold to 2.8-fold increase in glioma risk. It is also associated with higher susceptibility to basal cell carcinoma, prostate cancer, and uterine fibroids. Additionally, this genotype is linked to slightly higher diastolic blood pressure [2].
Reduced p53 tumor suppressor levels; Elevated risk of glioma and skin cancers; Slightly higher diastolic blood pressure.
Sample genotype: TG (Heterozygous)
A single copy of the rare G allele alters the polyadenylation signal of the TP53 gene [1]. This molecular change leads to impaired processing of the mRNA transcript, resulting in lower levels of the p53 tumor suppressor protein [1]. Consequently, the body's natural defense against abnormal cell growth is slightly compromised, raising the risk of several cancer types [1]. Specifically, this genotype is linked to a roughly 2.5-fold increase in the risk of glioma, a type of brain tumor [2]. It also elevates the risk of basal cell carcinoma, prostate cancer, and uterine fibroids. Individuals with this genotype may also exhibit slightly higher diastolic blood pressure [3].
Variants with shared genetic architecture
rs1042522 · TP53 Gene · Chr 17 · Longevity and Cellular Health
rs11540652 · TP53 Gene · Chr 17 · Cancer Predisposition Risk
rs121912651 · TP53 Gene · Chr 17 · Cancer Risk
A germline variant in the TP53 polyadenylation signal confers cancer susceptibility.
Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
Rare TP53 genetic variant associated with glioma risk and outcome.
Content updated August 2026.
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