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Acute Myeloid Leukemia (AML) and Related Precursor Neoplasms
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[[File:Dic(9 12).tif|300px]]
*[[Acute Myeloid Leukemia (AML) with Recurrent Genetic Abnormalities|Recurrent Genetic Abnormalities]]
 
**[[Acute Myeloid Leukemia (AML) with t(8;21)(q22;q22.1); RUNX1-RUNX1T1|t(8;21)(q22;q22.1); RUNX1-RUNX1T1]]
 
**Acute Myeloid Leukemia (AML) with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11
 
*Acute Myeloid Leukemia (AML) with Myelodysplasia-Related Changes
 
**sub division
 
***sub-sub-sub division
 
  
 +
==Myeloproliferative Neoplasms (MPN)==
  
 +
*[[HAEM5:Chronic myeloid leukaemia]]
 +
*[[HAEM5:Chronic neutrophilic leukaemia]]
 +
*[[HAEM5:Polycythaemia vera]]
 +
*[[HAEM5:Primary myelofibrosis]]
 +
*[[HAEM5:Chronic eosinophilic leukaemia]]
 +
*[[HAEM5:Myeloproliferative neoplasm, NOS]]
 +
*[[Some new stuff]]
  
*[[Acute Myeloid Leukemia (AML) with Recurrent Genetic Abnormalities]]
 
  
  - [[Acute Myeloid Leukemia (AML) with t(8;21)(q22;q22.1); RUNX1-RUNX1T1]]
+
'''Primary Author(s)*'''
  - [[Acute Myeloid Leukemia (AML) with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11]]
 
  - [[Acute Promyelocytic Leukemia (APL) with PML-RARA]]
 
  - [[Acute Myeloid Leukemia (AML) with t(9;11)(p21.3;q23.3); KMT2A-MLLT3]]
 
  - [[Acute Myeloid Leukemia (AML) with t(6;9)(p23;q34.1); DEK-NUP214]]
 
  - [[Acute Myeloid Leukemia (AML) with inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2);GATA2, MECOM]]
 
  - [[Acute Myeloid Leukemia (AML) Megakaryoblastic with t(1;22)(p13.3;q13.1);RBM15-MKL1]]
 
  - [[Acute Myeloid Leukemia (AML) with BCR-ABL1]]
 
  - [[Acute Myeloid Leukemia (AML) with Mutated NPM1]]
 
  - [[Acute Myeloid Leukemia (AML) with Biallelic Mutations of CEBPA]]
 
  - [[Acute Myeloid Leukemia (AML) with Mutated RUNX1]]
 
  
*[[Acute Myeloid Leukemia (AML) with Myelodysplasia-Related Changes]]
+
Put your text here
  
*[[Therapy-Related Myeloid Neoplasms]]
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'''Cancer Category/Type'''
  
*[[Acute Myeloid Leukemia (AML), Not Otherwise Specified]]
+
Put your text here 
  
  - [[Acute Myeloid Leukemia (AML) with Minimal Differentiation]]
 
  - [[Acute Myeloid Leukemia (AML) without Maturation]]
 
  - [[Acute Myeloid Leukemia (AML) with Maturation]]
 
  - [[Acute Myelomonocytic Leukemia]]
 
  - [[Acute Monoblastic and Monocytic Leukemia]]
 
  - [[Pure Erythroid Leukemia]]
 
  - [[Acute Megakaryoblastic Leukemia (AMKL)]]
 
  - [[Acute Basophilic Leukemia]]
 
  - [[Acute Panmyelosis with Myelofibrosis]]
 
  
*[[Myeloid Sarcoma]]
+
'''Cancer Sub-Classification/Subtype'''
  
*[[Myeloid Proliferations Associated with Down Syndrome]]
+
Put your text here
  
  - [[Transient Abnormal Myelopoiesis (TAM) Associated with Down Syndrome]]
 
  - [[Myeloid Leukemia Associated with Down Syndrome]]
 
  
*[[Blastic Plasmacytoid Dendritic Cell Neoplasm]]
+
'''Definition/Description of Disease'''
  
*[[Acute Leukemias of Ambiguous Lineage]]
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Put your text here
  
  - [[Acute Undifferentiated Leukemia]]
 
  - [[Mixed Phenotype Acute Leukemia (MPAL) with t(9;22)(q34.1;q11.2); BCR-ABL1]]
 
  - [[Mixed Phenotype Acute Leukemia (MPAL) with t(v;11q23.3); KMT2A Rearranged]]
 
  - [[Mixed Phenotype Acute Leukemia (MPAL), B/Myeloid, Not Otherwise Specified]]
 
  - [[Mixed Phenotype Acute Leukemia (MPAL), T/Myeloid, Not Otherwise Specified]]
 
  - [[Mixed-Phenotype Acute Leukemia, Not Otherwise Specified (NOS), Rare Types]]
 
  - [[Acute Leukemias of Ambiguous Lineage, Not Otherwise Specified (NOS)]]
 
  
*[[Myeloid Neoplasms with Germline Predisposition]]
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'''Synonyms/Terminology'''
  
  - [[Acute Myeloid Leukaemia with Germline CEBPA Mutation]]
+
Put your text here
  - [[Myeloid Neoplasms with Germline DDX41 Mutation]]
 
  - [[Myeloid Neoplasms with Germline RUNX1 Mutation]]
 
  - [[Myeloid Neoplasms with Germline ANKRD26 Mutation]]
 
  - [[Myeloid Neoplasms with Germline ETV6 Mutation]]
 
  - [[Myeloid Neoplasms with Germline GATA2 Mutation]]
 
  
  
 +
'''Epidemiology/Prevalence'''
  
 +
Put your text here
  
  
*[[Myelodysplastic Syndromes (MDS)]]
+
'''Clinical Features'''
  - [[Myelodysplastic Syndrome (MDS) with Single Lineage Dysplasia]]
 
  - [[Myelodysplastic Syndrome with Ring Sideroblasts (MDS-RS)]]
 
  - [[Myelodysplastic Syndrome with Ring Sideroblasts and Multilineage Dysplasia]]
 
  - [[Myelodysplastic Syndrome (MDS) with Multilineage Dysplasia]]
 
  - [[Myelodysplastic Syndrome (MDS) with Excess Blasts]]
 
  - [[Myelodysplastic Syndrome (MDS) with Isolated del(5q)]]
 
  - [[Myelodysplastic Syndrome (MDS), Unclassifiable]]
 
  - [[Refractory Cytopenia of Childhood]]
 
  
 +
Put your text here and fill in the table
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<br />
 +
{| class="wikitable"
 +
|'''Signs and  Symptoms'''
 +
|EXAMPLE Asymptomatic  (incidental finding on complete blood counts)
  
 +
EXAMPLE B-symptoms  (weight loss, fever, night sweats)
  
*[[Myeloproliferative Neoplasms (MPN)]]
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EXAMPLE Fatigue
  - [[Chronic Myeloid Leukemia (CML), BCR-ABL1 Positive]]
 
  - [[Chronic Neutrophilic Leukemia (CNL)]]
 
  - [[Polycythemia Vera (PV)]]
 
  - [[Primary Myelofibrosis (PMF)]]
 
  - [[Essential Thrombocythemia (ET)]]
 
  - [[Chronic Eosinophilic Leukemia, Not Otherwise Specified]]
 
  - [[Myeloproliferative Neoplasm (MPN), Unclassifiable]]
 
  
 +
EXAMPLE Lymphadenopathy  (uncommon)
 +
|-
 +
|'''Laboratory  Findings'''
 +
|EXAMPLE Cytopenias
  
*[[Myelodysplastic/Myeloproliferative Neoplasms (MDS/MPN)]]
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EXAMPLE Lymphocytosis  (low level)
#[[Chronic Myelomonocytic Leukemia (CMML)]]
+
|}
#[[Atypical Chronic Myeloid Leukemia (aCML), BCR-ABL1 Negative]]
 
#[[Juvenile Myelomonocytic Leukemia (JMML)]]
 
#[[Myelodysplastic/Myeloproliferative Neoplasms with Ring Sideroblasts and Thrombocytosis (MDS/MPN-RS-T)]]
 
#[[Myelodysplastic/Myeloproliferative Neoplasms (MDS/MPN), Unclassifiable]]
 
  
<comments />
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'''Sites of Involvement'''
 +
 
 +
Put your text here
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'''Morphologic Features'''
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Put your text here
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 +
 
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'''Immunophenotype'''
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 +
Put your text here and fill in the table
 +
<br />
 +
{| class="wikitable"
 +
|'''Positive  (universal)'''
 +
|EXAMPLE CD1
 +
|-
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|'''Positive  (subset)'''
 +
|EXAMPLE CD2
 +
|-
 +
|'''Negative  (universal)'''
 +
|EXAMPLE CD3
 +
|-
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|'''Negative (subset)'''
 +
|EXAMPLE CD4
 +
|}
 +
 
 +
 
 +
'''Chromosomal Rearrangements (Gene Fusions)'''
 +
 
 +
Put your text here and fill in the table
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<br />
 +
{| class="wikitable"
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|'''Chromosomal Rearrangement'''
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|'''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'''
 +
|-
 +
|EXAMPLE  t(9;22)(q34;q11.2)
 +
|EXAMPLE 3'ABL1  / 5'BCR
 +
|EXAMPLE der(22)
 +
|EXAMPLE 20%  (COSMIC)
 +
 
 +
EXAMPLE 30%  (add reference)
 +
|Yes
 +
|No
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|Yes
 +
|EXAMPLE
 +
 
 +
The t(9;22) is  diagnostic of CML in the appropriate morphology and clinical context (add  reference). This fusion is responsive to targeted therapy such as Imatinib  (Gleevec) (add reference).
 +
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'''Individual Region Genomic Gain/Loss/LOH'''
 +
 
 +
Put your text here and fill in the table
 +
<br />
 +
{| class="wikitable"
 +
|'''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).
 +
|-
 +
|EXAMPLE
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 +
8
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|EXAMPLE Gain
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|EXAMPLE
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 +
chr8:1-145,138,636  [hg38]
 +
|EXAMPLE
 +
 
 +
chr8
 +
|No
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|No
 +
|No
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|EXAMPLE
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Common recurrent  secondary finding for t(8;21) (add reference).
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'''Characteristic Chromosomal Patterns'''
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Put your text here
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 +
{| class="wikitable"
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|'''Chromosomal  Pattern'''
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|'''Diagnostic  Significance (Yes, No or Unknown)'''
 +
|'''Prognostic  Significance'''
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 +
'''(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).
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'''Gene Mutations (SNV/INDEL)'''
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Put your text here and fill in the table
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{| class="wikitable"
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|'''Gene; Genetic  Alteration'''
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|'''Presumed  Mechanism (Tumor Suppressor Gene (TSG)/Oncogene/Other)'''
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|'''Prevalence  (COSMIC/ TCGA/Other)'''
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|'''Concomitant  Mutations'''
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|'''Mutually  Exclusive Mutations'''
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|'''Diagnostic Significance (Yes, No or  Unknown)'''
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|'''Prognostic Significance'''
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 +
'''(Yes, No or Unknown)'''
 +
|'''Therapeutic Significance'''
 +
 
 +
'''(Yes, No or Unknown)'''
 +
|'''Notes'''
 +
|-
 +
|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
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|EXAMPLE: EGFR amplification
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|
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|
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|
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|EXAMPLE:  Excludes hairy cell leukemia (HCL) (add  reference).
 +
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Note: A more extensive list of mutations can be found in cBioportal (<nowiki>https://www.cbioportal.org/</nowiki>), COSMIC (<nowiki>https://cancer.sanger.ac.uk/cosmic</nowiki>), ICGC (<nowiki>https://dcc.icgc.org/</nowiki>) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
 +
 
 +
 
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'''Epigenomic Alterations'''
 +
 
 +
Put your text here
 +
 
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'''Genes and Main Pathways Involved'''
 +
 
 +
Put your text here and fill in the table
 +
{| class="wikitable"
 +
|'''Gene;  Genetic Alteration'''
 +
|'''Pathway'''
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|'''Pathophysiologic  Outcome'''
 +
|-
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|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
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|-
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|}
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'''Genetic Diagnostic Testing Methods'''
 +
 
 +
Put your text here
 +
 
 +
 
 +
'''Familial Forms'''
 +
 
 +
Put your text here
 +
 
 +
 
 +
'''Additional Information'''
 +
 
 +
Put your text here
 +
 
 +
 
 +
'''Links'''
 +
 
 +
Put your text placeholder here (use "Link" icon at top of page)
 +
 
 +
 
 +
'''References'''
 +
 
 +
(use "Cite" icon at top of page)
 +
 
 +
 
 +
BOOK EXAMPLE:  Arber DA, et al., (2017). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p130-149.
 +
 
 +
'''Notes'''
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 +
<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.

Latest revision as of 03:19, 31 May 2024

Dic(9 12).tif

Myeloproliferative Neoplasms (MPN)


Primary Author(s)*

Put your text here

Cancer Category/Type

Put your text here


Cancer Sub-Classification/Subtype

Put your text here


Definition/Description of Disease

Put your text here


Synonyms/Terminology

Put your text here


Epidemiology/Prevalence

Put your text here


Clinical Features

Put your text here and fill in the table

Signs and Symptoms EXAMPLE Asymptomatic (incidental finding on complete blood counts)

EXAMPLE B-symptoms (weight loss, fever, night sweats)

EXAMPLE Fatigue

EXAMPLE Lymphadenopathy (uncommon)

Laboratory Findings EXAMPLE Cytopenias

EXAMPLE Lymphocytosis (low level)


Sites of Involvement

Put your text here


Morphologic Features

Put your text here


Immunophenotype

Put your text here and fill in the table

Positive (universal) EXAMPLE CD1
Positive (subset) EXAMPLE CD2
Negative (universal) EXAMPLE CD3
Negative (subset) EXAMPLE CD4


Chromosomal Rearrangements (Gene Fusions)

Put your text here and fill in the table

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
EXAMPLE t(9;22)(q34;q11.2) EXAMPLE 3'ABL1 / 5'BCR EXAMPLE der(22) EXAMPLE 20% (COSMIC)

EXAMPLE 30% (add reference)

Yes No Yes EXAMPLE

The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference).


Individual Region Genomic Gain/Loss/LOH

Put your text here and fill in the table

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).

EXAMPLE

8

EXAMPLE Gain EXAMPLE

chr8:1-145,138,636 [hg38]

EXAMPLE

chr8

No No No EXAMPLE

Common recurrent secondary finding for t(8;21) (add reference).

Characteristic Chromosomal Patterns

Put your text here

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)

Put your text here and fill in the table

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; 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 EXAMPLE:  Excludes hairy cell leukemia (HCL) (add reference).


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

Put your text here

Genes and Main Pathways Involved

Put your text here and fill in the table

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

Put your text here


Familial Forms

Put your text here


Additional Information

Put your text here


Links

Put your text placeholder here (use "Link" icon at top of page)


References

(use "Cite" icon at top of page)


BOOK EXAMPLE:  Arber DA, et al., (2017). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p130-149.

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.