Gene Variant Detail

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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

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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_001407264.1 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_001407270.1 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_001126113 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_001126114 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_001407262.1 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_001126112.3 chr17:g.7676154G>C c.215C>G p.P72R RefSeq GRCh38/hg38
NM_001126112.2 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_001126114.3 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_000546 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

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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 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 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 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
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 + 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