Difference between revisions of "PTEN"

From Compendium of Cancer Genome Aberrations
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Beth Pitel, MS, ASCP(CG)CM
 
Beth Pitel, MS, ASCP(CG)CM
  
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== Gene Overview ==
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__TOC__
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PTEN is a well-classified tumor suppressor gene.
 
  
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==WHO Classification Pages (Includes Links to Content)==
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==Synonyms==
  
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Put your text here, EXAMPLE #[[Chromophobe renal cell carcinoma]]
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Put your text here
  
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==Other Related Pages (Includes Links to Content)==
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EXAMPLE: Tumor protein p53, ''LFS1, p53, BCC7, TRP53''
  
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Put your text here, EXAMPLE #[[Acute Myeloid Leukemia (AML) with Mutated FLT3]]
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==Genomic Location==
  
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== External Links ==
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'''Cytoband:''' Put your text here. EXAMPLE: 17p13.1
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'''Genomic Coordinates:'''
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Put your text here
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EXAMPLE: chr17:7,571,720-7,590,868 [hg19]
 +
 
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EXAMPLE: chr17:7,668,402-7,687,538 [hg38]
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==Cancer Category/Type==
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 +
Put your text here
 +
 
 +
==Gene Overview==
 +
 
 +
PTEN is a well-classified tumor suppressor gene.
 +
 
 +
==Common Alteration Types==
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Put your text here and/or fill in the table with an X where applicable
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{| class="wikitable sortable"
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|-
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! Copy Number Loss  !! Copy Number Gain  !!  LOH  !!  Loss-of-Function Mutation  !!  Gain-of-Function Mutation  !!  Translocation/Fusion
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|-
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| EXAMPLE: X ||EXAMPLE: X  || EXAMPLE: X  || EXAMPLE: X || EXAMPLE: X || EXAMPLE: X
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|}
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==Internal Pages==
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 +
Put your text here
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EXAMPLE [[Germline Cancer Predisposition Genes]]
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==External Links==
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Put your text here - Include as applicable links to: 1) Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2) COSMIC, 3) CIViC, 4) St. Jude ProteinPaint, 5) Precision Medicine Knnowledgebase (Weill Cornell), 6) Cancer Index, 7) OncoKB, 8) My Cancer Genome, 9) UniProt, 10) Pfam, 11) GeneCards, 12) GeneReviews, and 13) Any gene-specific databases.
  
 
[https://pecan.stjude.org/proteinpaint/Pten PTEN by ProteinPaint]
 
[https://pecan.stjude.org/proteinpaint/Pten PTEN by ProteinPaint]
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[http://oncokb.org/#/gene/PTEN PTEN by OncoKB]
 
[http://oncokb.org/#/gene/PTEN PTEN by OncoKB]
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EXAMPLES
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'''[http://atlasgeneticsoncology.org/Genes/P53ID88.html ''TP53'' by Atlas of Genetics and Cytogenetics in Oncology and Haematology]''' - detailed gene information
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'''[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=TP53 ''TP53'' by COSMIC]''' - sequence information, expression, catalogue of mutations
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'''[https://civicdb.org/events/genes/45/summary/variants/1300/summary ''TP53'' by CIViC]''' - general knowledge and evidence-based variant specific information
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'''[http://p53.iarc.fr/ ''TP53'' by IARC]''' - ''TP53'' database with reference sequences and mutational landscape
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'''[https://pecan.stjude.cloud/proteinpaint/tp53 ''TP53'' by St. Jude ProteinPaint]''' mutational landscape and matched expression data.
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'''[https://pmkb.weill.cornell.edu/search?utf8=%E2%9C%93&search=tp53 ''TP53'' by Precision Medicine Knowledgebase (Weill Cornell)]''' - manually vetted interpretations of variants and CNVs
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'''[http://www.cancerindex.org/geneweb/TP53.htm ''TP53'' by Cancer Index]''' - gene, pathway, publication information matched to cancer type
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'''[http://oncokb.org/#/gene/TP53 ''TP53'' by OncoKB]''' - mutational landscape, mutation effect, variant classification
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'''[https://www.mycancergenome.org/content/gene/tp53/ ''TP53'' by My Cancer Genome]''' - brief gene overview
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'''[http://www.uniprot.org/uniprot/P04637 ''TP53'' by UniProt]''' - protein and molecular structure and function
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'''[https://pfam.xfam.org/family/p53 ''TP53'' by Pfam]''' - gene and protein structure and function information
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'''[http://www.genecards.org/cgi-bin/carddisp.pl?gene=tp53 ''TP53'' by GeneCards]''' - general gene information and summaries
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'''[https://www.ncbi.nlm.nih.gov/books/NBK1311/ GeneReviews]''' - information on Li Fraumeni Syndrome
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==References==
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=== EXAMPLE Book ===
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#Arber DA, et al., (2008). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, Editors. IARC Press: Lyon, France, p117-118.
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=== EXAMPLE Journal Article ===
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#Li Y, et al., (2001). Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia. Nat Genet 28:220-221, PMID 11431691.
  
 
== Notes ==
 
== Notes ==
 
<nowiki>*</nowiki>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.
 
<nowiki>*</nowiki>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.

Revision as of 22:46, 16 May 2018

Primary Author(s)*

Beth Pitel, MS, ASCP(CG)CM

Synonyms

Put your text here

EXAMPLE: Tumor protein p53, LFS1, p53, BCC7, TRP53

Genomic Location

Cytoband: Put your text here. EXAMPLE: 17p13.1

Genomic Coordinates:

Put your text here

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

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

Cancer Category/Type

Put your text here

Gene Overview

PTEN is a well-classified tumor suppressor gene.

Common Alteration Types

Put your text here and/or fill in the table with an X where applicable

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

Internal Pages

Put your text here

EXAMPLE Germline Cancer Predisposition Genes

External Links

Put your text here - Include as applicable links to: 1) Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2) COSMIC, 3) CIViC, 4) St. Jude ProteinPaint, 5) Precision Medicine Knnowledgebase (Weill Cornell), 6) Cancer Index, 7) OncoKB, 8) My Cancer Genome, 9) UniProt, 10) Pfam, 11) GeneCards, 12) GeneReviews, and 13) Any gene-specific databases.

PTEN by ProteinPaint

PTEN by CIViC

PTEN by PMKB

PTEN by OncoKB

EXAMPLES

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

EXAMPLE Book

  1. Arber DA, et al., (2008). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, Editors. IARC Press: Lyon, France, p117-118.

EXAMPLE Journal Article

  1. Li Y, et al., (2001). Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia. Nat Genet 28:220-221, PMID 11431691.

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=PTEN&oldid=3076"