Difference between revisions of "TP53"

From Compendium of Cancer Genome Aberrations
Jump to navigation Jump to search
VisualWikitext
[unchecked revision][unchecked revision]
Line 3: Line 3:
 
Beth Pitel, MS, ASCP(CG)CM
 
Beth Pitel, MS, ASCP(CG)CM
  
−
Jennelle C. Hodge, PhD
+
Kay Weng Choy (MBBS, BMedSci, FAACB)
  
 
__TOC__
 
__TOC__
Line 27: Line 27:
 
==Gene Overview==
 
==Gene Overview==
  
−
The ''TP53'' protein product is involved in regulating the cell cycle pathway and can prevent replication if cell damage has occurred [1, 2].  ''TP53'' has been implicated in many cancer types, and is classically considered the prototypic tumor suppressor gene [3, 4].  Inactivating mutations resulting in loss of p53 function, including deletions, LOH, and loss of function (LOF) alterations often confer a poor prognosis and chemoresistance.  Alternatively, gain-of-function mutations promoting the expression and stability of the p53 protein in the nucleus can also lead to oncogenic effects, including genomic instability and excessive cell proliferation [5].
+
 
  
 
==Common Alteration Types==
 
==Common Alteration Types==
Line 71: Line 71:
  
 
==References==
 
==References==
−
1. Hampp S, et al., (2016). DNA damage tolerance pathway involving DNA polymerase ι and the tumor suppressor p53 regulates DNA replication fork progression. PNAS 113(30): E4311-4319, PMID 27407148.  
+
1. Finlay CA, et al., (1989). The p53 proto-oncogene can act as a suppressor of transformation. Cell 57(7):1083-1093, PMID 2525423.
 +
 
 +
2. Li FP, et al., (1998). A cancer family syndrome in twenty-four kindreds. Cancer Res 48(18):5358-5362, PMID 3409256.
 +
 
 +
3. Malkin D, et al., (1990). Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 250(4985):1233-1238, PMID 1978757.
 +
 
 +
4. Baker SJ, et al., (1990). Suppression of human colorectal carcinoma cell growth by wild-type p53. Science 249(4971):912-915, PMID 2144057.
 +
 
 +
5. Kastenhuber ER, Lowe SW, (2017). Putting p53 in context. Cell 170(6):1062-1078, PMID 28886379.
 +
 
 +
6. Kastan MB, et al., (1991). Participation of p53 protein in the cellular response to DNA damage. Cancer Res 51(23 Pt 1):6304-6311, PMID 1933891.
 +
 
 +
7. Harper JW, et al., (1993). The p21 CDK-interacting protein Cip1 is a potent inhibitor of G1 cyclin-dependent kinases. Cell 75(4):805-816, PMID 8242751.
 +
 
 +
8. Serrano M, et al., (1997). Onocogenic ras provokes premature cell senescence associated with accumulation of p53 and p16INK4a. Cell 88(5):593-602, PMID 9054499.
 +
 
 +
9. Liu Y, et al., (2016). Deletions linked to TP53 loss drive cancer through p53-independent mechanisms. Nature 531(7595):471-475, PMID 26982726.
 +
 
 +
10. Ciriello G, et al., (2013). Emerging landscape of oncogenic signatures across human cancers. Nat Genet 45(10):1127-1233, PMID 24071851.
 +
 
 +
11. Shlien A, et al., (2008). Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome. Proc Natl Acad Sci U S A 105(32):11264-11269, PMID 18685109.  
  
−
2. Levine AJ. (1997). p53, the cellular gatekeeper for growth and division. Cell 88(3):323-231, PMID 9039259.
+
12. Olivier M, et al., (2009). Recent advances in p53 research: an interdisciplinary perspective. Cancer Gene Ther 16(1):1-12, PMID 18802452.  
  
−
3. Wang M, et al., (2018). Characterizing genomic differences of human cancer stratified by the TP53 mutation status. Mol Genet Genomics doi: 10.1007/s00438-018-1416-7 [Epub ahead of print], PMID 29330617.
+
13. Malkin D, (2011). Li-Fraumeni syndrome. Genes Cancer 2(4):475-484, PMID 21779515.
  
−
4. Kato S, et al., (2003). Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. Proc Natl Acad Sci U S A 100(14):8424-8429, PMID 12826609.
+
14. Tinat J, et al., (2009). 2009 version of the Chompret criteria for Li-Fraumeni syndrome. J Clin Oncol 27(26):e108-109, PMID 19652052.  
  
−
5. Olivier M, et al., (2009). Recent advances in p53 research: an interdisciplinary perspective. Cancer Gene Ther 16(1):1-12, PMID 18802452.
+
15. Baugh EH, et al., (2018). Why are there hotspot mutations in the TP53 gene in human cancers? Cell Death Differ 25(1):154-160, PMID 29099487.  
  
 
== Notes ==
 
== Notes ==

Revision as of 20:20, 23 July 2018

Primary Author(s)*

Beth Pitel, MS, ASCP(CG)CM

Kay Weng Choy (MBBS, BMedSci, FAACB)

Synonyms

Tumor protein p53, LFS1, p53, BCC7, TRP53

Genomic Location

Cytoband: 17p13.1

Genomic Coordinates:

chr17:7,571,720-7,590,868 [hg19]

chr17:7,668,402-7,687,538 [hg38]

Cancer Category/Type

Nearly universal involvement in diverse cancer types.

Gene Overview

Common Alteration Types

Copy Number Loss Copy Number Gain LOH Loss-of-Function Mutation Gain-of-Function Mutation Translocation/Fusion
X X X X

Internal Pages

Germline Cancer Predisposition Genes

External Links

TP53 by Atlas of Genetics and Cytogenetics in Oncology and Haematology - detailed gene information

TP53 by COSMIC - sequence information, expression, catalogue of mutations

TP53 by CIViC - general knowledge and evidence-based variant specific information

TP53 by IARC - TP53 database with reference sequences and mutational landscape

TP53 by St. Jude ProteinPaint mutational landscape and matched expression data.

TP53 by Precision Medicine Knowledgebase (Weill Cornell) - manually vetted interpretations of variants and CNVs

TP53 by Cancer Index - gene, pathway, publication information matched to cancer type

TP53 by OncoKB - mutational landscape, mutation effect, variant classification

TP53 by My Cancer Genome - brief gene overview

TP53 by UniProt - protein and molecular structure and function

TP53 by Pfam - gene and protein structure and function information

TP53 by GeneCards - general gene information and summaries

GeneReviews - information on Li Fraumeni Syndrome

References

1. Finlay CA, et al., (1989). The p53 proto-oncogene can act as a suppressor of transformation. Cell 57(7):1083-1093, PMID 2525423.

2. Li FP, et al., (1998). A cancer family syndrome in twenty-four kindreds. Cancer Res 48(18):5358-5362, PMID 3409256.

3. Malkin D, et al., (1990). Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 250(4985):1233-1238, PMID 1978757.

4. Baker SJ, et al., (1990). Suppression of human colorectal carcinoma cell growth by wild-type p53. Science 249(4971):912-915, PMID 2144057.

5. Kastenhuber ER, Lowe SW, (2017). Putting p53 in context. Cell 170(6):1062-1078, PMID 28886379.

6. Kastan MB, et al., (1991). Participation of p53 protein in the cellular response to DNA damage. Cancer Res 51(23 Pt 1):6304-6311, PMID 1933891.

7. Harper JW, et al., (1993). The p21 CDK-interacting protein Cip1 is a potent inhibitor of G1 cyclin-dependent kinases. Cell 75(4):805-816, PMID 8242751.

8. Serrano M, et al., (1997). Onocogenic ras provokes premature cell senescence associated with accumulation of p53 and p16INK4a. Cell 88(5):593-602, PMID 9054499.

9. Liu Y, et al., (2016). Deletions linked to TP53 loss drive cancer through p53-independent mechanisms. Nature 531(7595):471-475, PMID 26982726.

10. Ciriello G, et al., (2013). Emerging landscape of oncogenic signatures across human cancers. Nat Genet 45(10):1127-1233, PMID 24071851.

11. Shlien A, et al., (2008). Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome. Proc Natl Acad Sci U S A 105(32):11264-11269, PMID 18685109.

12. Olivier M, et al., (2009). Recent advances in p53 research: an interdisciplinary perspective. Cancer Gene Ther 16(1):1-12, PMID 18802452.

13. Malkin D, (2011). Li-Fraumeni syndrome. Genes Cancer 2(4):475-484, PMID 21779515.

14. Tinat J, et al., (2009). 2009 version of the Chompret criteria for Li-Fraumeni syndrome. J Clin Oncol 27(26):e108-109, PMID 19652052.

15. Baugh EH, et al., (2018). Why are there hotspot mutations in the TP53 gene in human cancers? Cell Death Differ 25(1):154-160, PMID 29099487.

Notes

*Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome.

Retrieved from "https://ccga.io/index.php?title=TP53&oldid=4327"