Compendium of Cancer Genome Aberrations

HAEM5:Classic Hodgkin lymphoma: Difference between revisions

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!Clinical Relevance Details/Other Notes
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>''EGFR''
|TNFAIP3
 
|Inactivating mutation
<br />
|Tumor Suppressor Gene
|<span class="blue-text">EXAMPLE:</span> Exon 18-21 activating mutations
|Recurrent (5-20%)
|<span class="blue-text">EXAMPLE:</span> Oncogene
|P
|<span class="blue-text">EXAMPLE:</span> Common (lung cancer)
|No
|<span class="blue-text">EXAMPLE:</span> T
|Loss of function mutations disrupt NF-κB regulation (PMID: 19380639)
|<span class="blue-text">EXAMPLE:</span> Yes (NCCN)
|<span class="blue-text">EXAMPLE:</span> Exons 18, 19, and 21 mutations are targetable for therapy. Exon 20 T790M variants cause resistance to first generation TKI therapy and are targetable by second and third generation TKIs (add references).
|-
|-
|<span class="blue-text">EXAMPLE:</span> ''TP53''; Variable LOF mutations
|SOCS1
<br />
|Frameshift and nonsense mutations
|<span class="blue-text">EXAMPLE:</span> Variable LOF mutations
|Tumor Suppressor Gene
|<span class="blue-text">EXAMPLE:</span> Tumor Supressor Gene
|Recurrent (5-20%)
|<span class="blue-text">EXAMPLE:</span> Common (breast cancer)
|P
|<span class="blue-text">EXAMPLE:</span> P
|No
|
|SOCS1 mutations activate JAK/STAT signaling (PMID: 24531327)
|<span class="blue-text">EXAMPLE:</span> >90% are somatic; rare germline alterations associated with Li-Fraumeni syndrome (add reference). Denotes a poor prognosis in breast cancer.
|-
|-
|<span class="blue-text">EXAMPLE:</span> ''BRAF''; Activating mutations
|STAT6
|<span class="blue-text">EXAMPLE:</span> Activating mutations
|Missense mutations
|<span class="blue-text">EXAMPLE:</span> Oncogene
|Oncogene
|<span class="blue-text">EXAMPLE:</span> Common (melanoma)
|Recurrent (5-20%)
|<span class="blue-text">EXAMPLE:</span> T
|P
|
|No
|
|STAT6 mutations drive cytokine signaling alterations (PMID: 24531327, 29650799)
|-
|-
|
|B2M
|
|Inactivating mutations
|
|Tumor Suppressor Gene
|
|Rare (<5%)
|
|P
|
|No
|
|Loss of MHC class I expression aids immune evasion (PMID: 21368758)
|-
|CIITA
|Inactivating mutations
|Tumor Suppressor Gene
|Rare (<5%)
|P
|No
|Loss of MHC class II expression aids immune evasion (PMID: 21368758)
|-
|XPO1
|Missense mutations
|Oncogene
|Rare (<5%)
|Unknown
|No
|Emerging evidence of role in CHL pathogenesis (PMID: 33686198)
|}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
|}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.


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