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Beth Pitel, MS, ASCP(CG)CM
 
Beth Pitel, MS, ASCP(CG)CM
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Jennelle C. Hodge, PhD
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Kay Weng Choy (MBBS, BMedSci, FAACB)
    
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==Gene Overview==
 
==Gene Overview==
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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].
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==Common Alteration Types==
 
==Common Alteration Types==
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==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.  
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1. Finlay CA, et al., (1989). The p53 proto-oncogene can act as a suppressor of transformation. Cell 57(7):1083-1093, PMID 2525423.
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2. Li FP, et al., (1998). A cancer family syndrome in twenty-four kindreds. Cancer Res 48(18):5358-5362, PMID 3409256.
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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.
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4. Baker SJ, et al., (1990). Suppression of human colorectal carcinoma cell growth by wild-type p53. Science 249(4971):912-915, PMID 2144057.
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5. Kastenhuber ER, Lowe SW, (2017). Putting p53 in context. Cell 170(6):1062-1078, PMID 28886379.
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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.
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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.
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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.
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9. Liu Y, et al., (2016). Deletions linked to TP53 loss drive cancer through p53-independent mechanisms. Nature 531(7595):471-475, PMID 26982726.
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10. Ciriello G, et al., (2013). Emerging landscape of oncogenic signatures across human cancers. Nat Genet 45(10):1127-1233, PMID 24071851.
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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.  
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2. Levine AJ. (1997). p53, the cellular gatekeeper for growth and division. Cell 88(3):323-231, PMID 9039259.
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12. Olivier M, et al., (2009). Recent advances in p53 research: an interdisciplinary perspective. Cancer Gene Ther 16(1):1-12, PMID 18802452.  
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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.
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13. Malkin D, (2011). Li-Fraumeni syndrome. Genes Cancer 2(4):475-484, PMID 21779515.
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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.
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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.  
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5. Olivier M, et al., (2009). Recent advances in p53 research: an interdisciplinary perspective. Cancer Gene Ther 16(1):1-12, PMID 18802452.
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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 ==