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) | |||
!Prognostic Significance (Yes, No or Unknown) | |||
!Therapeutic Significance (Yes, No or Unknown) | |||
!Notes | |||
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|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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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.'') | 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.'') | ||
{| class="wikitable sortable" | |||
|- | |||
!Chr #!!Gain / Loss / Amp / LOH!!Minimal Region Genomic Coordinates [Genome Build]!!Minimal Region Cytoband | |||
!Diagnostic Significance (Yes, No or Unknown) | |||
!Prognostic Significance (Yes, No or Unknown) | |||
!Therapeutic Significance (Yes, No or Unknown) | |||
!Notes | |||
|- | |||
|EXAMPLE | |||
7 | |||
|EXAMPLE Loss | |||
|EXAMPLE | |||
chr7:1- 159,335,973 [hg38] | |||
|EXAMPLE | |||
chr7 | |||
|Yes | |||
|Yes | |||
|No | |||
|EXAMPLE | |||
Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference). Monosomy 7/7q deletion is associated with a poor prognosis in AML (add reference). | |||
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==Characteristic Chromosomal Patterns== | ==Characteristic Chromosomal Patterns== | ||
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)'' | 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)'' | ||
{| class="wikitable sortable" | |||
|- | |||
!Chromosomal Pattern | |||
!Diagnostic Significance (Yes, No or Unknown) | |||
!Prognostic Significance (Yes, No or Unknown) | |||
!Therapeutic Significance (Yes, No or Unknown) | |||
!Notes | |||
|- | |||
|EXAMPLE | |||
Co-deletion of 1p and 18q | |||
|Yes | |||
|No | |||
|No | |||
|EXAMPLE: | |||
See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference). | |||
|} | |||
==Gene Mutations (SNV/INDEL)== | ==Gene Mutations (SNV/INDEL)== | ||
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==Genes and Main Pathways Involved== | ==Genes and Main Pathways Involved== | ||
Put your text here and fill in the table ''(Instructions: Can include references in the table.)'' | Put your text here and fill in the table ''(Instructions: Can include references in the table.)'' | ||
{| class="wikitable sortable" | |||
|- | |||
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome | |||
|- | |||
|EXAMPLE: BRAF and MAP2K1; Activating mutations | |||
EXAMPLE: CDKN2A; Inactivating mutations | |||
EXAMPLE: KMT2C and ARID1A; Inactivating mutations | |||
|EXAMPLE: MAPK signaling | |||
EXAMPLE: Cell cycle regulation | |||
EXAMPLE: Histone modification, chromatin remodeling | |||
|EXAMPLE: Increased cell growth and proliferation | |||
EXAMPLE: Unregulated cell division | |||
EXAMPLE: Abnormal gene expression program | |||
|} | |||
==Genetic Diagnostic Testing Methods== | ==Genetic Diagnostic Testing Methods== | ||
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(''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: 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 /> | (''Instruction: If a PMID is not available, such as for a book, please include the entire reference in this section'')<references /> | ||