TP53
Tumor Protein P53
Gene Number: 7157
Location: 17p13.1
Key Functions: Tumor suppression, DNA damage response, cell-cycle control, programmed cell death
TP53 produces p53, a protein that helps protect cells from damaged DNA. When damage occurs, p53 can pause cell division to allow repairs or trigger programmed cell death when the damage is too severe. These functions help prevent damaged cells from multiplying [R].
This report examines rs1042522, commonly called Arg72Pro, which changes the amino acid at position 72 of p53. Its two common forms differ in how they regulate cell division and programmed cell death, and have been studied in relation to cancer and longevity [R].
Explore your genotype below, or visit BRCA1 and DNA repair and APC and cell-growth regulation to understand other genes involved in protecting healthy cells.
SNP ID | Your Genotype | Alt Allele | Interpretation |
|---|---|---|---|
rs1042522 | Analyze your DNA to see your genotype | C | Analyze your DNA to see a personalized result. |
rs1042522 — p53 Function and Cellular Stress Response (Forward Strand)
CC Arg/Arg. The Arg72 form triggers programmed cell death more efficiently than Pro72 in laboratory studies.
CG Arg/Pro. Combines the Arg72 and Pro72 forms of p53, which differ in their effects on programmed cell death and cell-cycle control.
GG Pro/Pro. The Pro72 form shows a greater ability to pause the cell cycle than Arg72 in laboratory studies.
Functional effect: rs1042522 changes the protein sequence of p53. Arg72 is more efficient at triggering programmed cell death, while Pro72 more strongly promotes cell-cycle arrest in experimental comparisons. These are differences between two common functional forms of p53 [R].
What About Longevity and Cancer?
A Danish study of 9,219 people reported approximately three years longer median survival for Pro/Pro individuals—GG on the forward strand—compared with Arg/Arg individuals. It did not find a corresponding reduction in cancer risk [R]. A later Danish study of 105,200 people did not reproduce the survival association and found no overall association with cancer incidence or mortality after cancer [R].
This common variant is not a Li-Fraumeni syndrome–causing mutation. Checking rs1042522 does not screen for other inherited TP53 variants that cause that syndrome [R].
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