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Gene | TP53 |
Variant | P72R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | TP53 P72R lies within the CCAR2, HRMT1L2, and WWOX-interacting regions of the Tp53 protein (UniProt.org). P72R is a common polymorphism (PMID: 19165225) that decreases Pgc-1a binding, increases mitochondrial function, migration, invasion, and tumor cell metastasis induced by mutant Tp53 in cell culture and in mouse models (PMID: 29463573), but transactivates downstream target genes and inhibits cell growth similar to wild-type Tp53 in culture (PMID: 33257846), and therefore, its effect on Tp53 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
TP53 mutant TP53 exon4 TP53 P72R |
Transcript | NM_000546.6 |
gDNA | chr17:g.7676154G>C |
cDNA | c.215C>G |
Protein | p.P72R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001126112.2 | chr17:g.7676154G>C | c.215C>G | p.P72R | RefSeq | GRCh38/hg38 |
NM_001407264.1 | chr17:g.7676154G>C | c.215C>G | p.P72R | RefSeq | GRCh38/hg38 |
NM_001126114.2 | chr17:g.7676154G>C | c.215C>G | p.P72R | RefSeq | GRCh38/hg38 |
NM_001126113 | chr17:g.7676154G>C | c.215C>G | p.P72R | RefSeq | GRCh38/hg38 |
NM_001407266.1 | chr17:g.7676154G>C | c.215C>G | p.P72R | RefSeq | GRCh38/hg38 |
NM_001126113.2 | chr17:g.7676154G>C | c.215C>G | p.P72R | RefSeq | GRCh38/hg38 |
NM_001407270.1 | chr17:g.7676154G>C | c.215C>G | p.P72R | RefSeq | GRCh38/hg38 |
NM_001407268.1 | chr17:g.7676154G>C | c.215C>G | p.P72R | RefSeq | GRCh38/hg38 |
NM_001126113.3 | chr17:g.7676154G>C | c.215C>G | p.P72R | RefSeq | GRCh38/hg38 |
NM_000546.5 | chr17:g.7676154G>C | c.215C>G | p.P72R | RefSeq | GRCh38/hg38 |
NM_001126112.3 | chr17:g.7676154G>C | c.215C>G | p.P72R | RefSeq | GRCh38/hg38 |
NM_000546.6 | chr17:g.7676154G>C | c.215C>G | p.P72R | RefSeq | GRCh38/hg38 |
NM_000546 | chr17:g.7676154G>C | c.215C>G | p.P72R | RefSeq | GRCh38/hg38 |
NM_001126112 | chr17:g.7676154G>C | c.215C>G | p.P72R | RefSeq | GRCh38/hg38 |
NM_001126114 | chr17:g.7676154G>C | c.215C>G | p.P72R | RefSeq | GRCh38/hg38 |
NM_001126114.3 | chr17:g.7676154G>C | c.215C>G | p.P72R | RefSeq | GRCh38/hg38 |
NM_001407262.1 | chr17:g.7676154G>C | c.215C>G | p.P72R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
TP53 P72R | breast cancer | unknown | Epirubicin | Phase I | Actionable | In a Phase I clinical trial, breast cancer patients harboring TP53 P72R mutations, who were also hormone receptor negative, demonstrated a favorable response to Ellence (epirubicin) in combination with other chemotherapeutic agents (PMID: 22903472). | 22903472 |
TP53 P72R | lung non-small cell carcinoma | sensitive | Cisplatin + Irinotecan | Phase I | Actionable | In phase I clinical studies, NSCLC patients with TP53 P72R mutations had a longer progression-free survival than wild-type TP53 patients, after combined treatment with Camptosar (irinotecan) and Platinol (cisplatin) (PMID: 18618574). | 18618574 |
TP53 P72R | sarcoma | sensitive | Doxorubicin + Ifosfamide | Phase I | Actionable | In a Phase I clinical trial, sarcoma patients harboring TP53 P72R mutations had longer progression-free survival after treatment with Cyfos (ifosfamide) and Adriamycin (doxorubicin) (PMID: 23165797). | 23165797 |
TP53 P72R | breast cancer | predicted - sensitive | Cyclophosphamide + Doxorubicin + Fluorouracil | Phase I | Actionable | In a Phase I trial, breast cancer patients harboring TP53 P72R were reported to have a better response to anthracycline-based neoadjuvant therapies, including Adriamycin (doxorubicin) in combination with Cytoxan (cyclophosphamide) and Adrucil (fluorouracil) (PMID: 16243804). | 16243804 |
TP53 P72R | breast cancer | predicted - sensitive | Cyclophosphamide + Epirubicin + Fluorouracil | Phase I | Actionable | In a Phase I trial, breast cancer patients harboring TP53 P72R were reported to have a better response to anthracycline-based neoadjuvant therapies, including Ellence (epirubicin) in combination with Cytoxan (cyclophosphamide) and Adrucil (fluorouracil) (PMID: 16243804). | 16243804 |
TP53 P72R | breast cancer | predicted - sensitive | Cyclophosphamide + Fluorouracil + Pirarubicin | Phase I | Actionable | In a Phase I trial, breast cancer patients harboring TP53 P72R were reported to have a better response to anthracycline-based neoadjuvant therapies, including pirarubicin in combination with Cytoxan (cyclophosphamide) and Adrucil (fluorouracil) (PMID: 16243804). | 16243804 |