Disease-Specific Template: Difference between revisions
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!Chromosomal Rearrangement!!Genes in Fusion (5’ or 3’ Segments)!!Pathogenic Derivative!!Prevalence | !Chromosomal Rearrangement!!Genes in Fusion (5’ or 3’ Segments)!!Pathogenic Derivative!!Prevalence | ||
|'''Diagnostic Significance (Yes, No or Unknown) | |'''Diagnostic Significance''' (Yes, No or Unknown) | ||
|'''Prognostic Significance (Yes, No or Unknown) | |'''Prognostic Significance''' (Yes, No or Unknown) | ||
|'''Therapeutic Significance (Yes, No or Unknown) | |'''Therapeutic Significance''' (Yes, No or Unknown) | ||
|''' | |'''Notes''' | ||
|- | |- | ||
|EXAMPLE t(9;22)(q34;q11.2)||EXAMPLE 3'ABL1 / 5'BCR||EXAMPLE der(22)||EXAMPLE 20% (COSMIC) | |EXAMPLE t(9;22)(q34;q11.2)||EXAMPLE 3'ABL1 / 5'BCR||EXAMPLE der(22)||EXAMPLE 20% (COSMIC) | ||
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==Individual Region Genomic Gain/Loss/LOH== | ==Individual Region Genomic Gain/Loss/LOH== | ||
Put your text here | Put your text here and fill in the table (''Instructions: Includes aberrations not involving gene fusions. Can include references in the table. Can refer to CGC workgroup tables as linked on the homepage if applicable.'') | ||
==Characteristic Chromosomal Patterns== | ==Characteristic Chromosomal Patterns== | ||
Put your text here | Put your text here ''(EXAMPLE PATTERNS: hyperdiploid; gain of odd number chromosomes including typically chromosome 1, 3, 5, 7, 11, and 17; co-deletion of 1p and 19q; complex karyotypes without characteristic genetic findings; chromothripsis)'' | ||
==Gene Mutations (SNV/INDEL)== | ==Gene Mutations (SNV/INDEL)== | ||
Put your text here and/or | Put your text here and fill in the table (''Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent and common as well either disease defining and/or clinically significant. Can include references in the table. For clinical significance, denote associations with FDA-approved therapy (not an extensive list of applicable drugs) and NCCN or other national guidelines if applicable; Can also refer to CGC workgroup tables as linked on the homepage if applicable as well as any high impact papers or reviews of gene mutations in this entity.)'' | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
|- | |- | ||
!Gene!! | !Gene; Genetic Alteration!!'''Presumed Mechanism (Tumor Suppressor Gene (TSG) / Oncogene / Other)'''!!'''Prevalence (COSMIC/ TCGA/Other)'''!!'''Concomitant Mutations'''!!'''Mutually Exclusive Mutations''' | ||
!'''Diagnostic Significance (Yes, No or Unknown)''' | |||
!Prognostic Significance (Yes, No or Unknown) | |||
!Therapeutic Significance (Yes, No or Unknown) | |||
!Notes | |||
|- | |- | ||
|EXAMPLE TP53||EXAMPLE | |EXAMPLE: TP53; Variable LOF mutations | ||
|} | |||
EXAMPLE: | |||
EGFR; Exon 20 mutations | |||
EXAMPLE: BRAF; Activating mutations | |||
|EXAMPLE: TSG | |||
|EXAMPLE: 20% (COSMIC) | |||
EXAMPLE: 30% (add Reference) | |||
|EXAMPLE: IDH1 R123H | |||
|EXAMPLE: EGFR amplification | |||
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|EXAMPLE: Excludes hairy cell leukemia (HCL) (add reference). | |||
<br /> | |||
|} | |||
Note: A more extensive list of mutations can be found in cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content. | |||
==Epigenomic Alterations== | ==Epigenomic Alterations== | ||
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==Genes and Main Pathways Involved== | ==Genes and Main Pathways Involved== | ||
Put your text here | Put your text here and fill in the table ''(Instructions: Can include references in the table.)'' | ||
==Genetic Diagnostic Testing Methods== | ==Genetic Diagnostic Testing Methods== | ||
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==Familial Forms== | ==Familial Forms== | ||
Put your text here | Put your text here (''Instructions: Include associated hereditary conditions/syndromes that cause this entity or are caused by this entity.'') | ||
==Additional Information== | ==Additional Information== | ||
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==Links== | ==Links== | ||
Put your | Put your text placeholder here (use "Link" icon at top of page) (''Instructions: For example, link to related gene pages within the site. Note: links will be converted using the link icon at top of page in the CCGA site.'') | ||
==References== | ==References== | ||
(use "Cite" icon at top of page) | (use "Cite" icon at top of page) | ||
<references /> | |||
(''Instruction: Add PMIDs into the text above where references are appropriate - PMIDs will be used to insert references on the CCGA site and the reference list automatically generated'') | |||
(''Instruction: If a PMID is not available, such as for a book, please include the entire reference in this section'')<references /> | |||
===EXAMPLE Book=== | ===EXAMPLE Book=== | ||
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==Notes== | ==Notes== | ||
<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page. | <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. | ||