Compendium of Cancer Genome Aberrations

BRST5:The polygenic component of breast cancer susceptibility: Difference between revisions

(View all pending changes)
[checked revision][pending revision]
← Older edit
VisualWikitext
No edit summary
Lynn.Hu (talk | contribs)
109 edits
 
(2 intermediate revisions by one other user not shown)
Line 51: Line 51:
!Notes
!Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span> ''BRCA1''||<span class="blue-text">EXAMPLE:</span> Many||<span class="blue-text">EXAMPLE:</span> Multiple variant types leading to loss of function||<span class="blue-text">EXAMPLE:</span> Autosomal recessive,  
|Multiple Genes(FGFR2, MAP3K1, TOX3 etc)||Many SNPs (Common, minor allele frequency >1%)||Affect regulatory region or epigenetics rather than traditional oncogenes/tumor suppressor genes ||complex inheritance: non-Mendelian, polygenic pattern; their effects are additive or multiplicative and are often influenced by environment; Penetrance: each SNP confer very modest risk (<1.3 fold), but cumulative penetrance increases with a higher PRS; Expressivity: variable. PRS may influence age of onset, tumor subtype or morphology
~30% penetrant for carriers
|
|
|-
|-
|<span class="blue-text">EXAMPLE:</span> Gene X
|
|<span class="blue-text">EXAMPLE:</span> List the specific mutation
|
|
|
|
|
Line 76: Line 75:
!Notes
!Notes
|-
|-
|Multiple SNPs (e.g., FGFR2, MAP3K1, TOX3)
|
|Regulatory/epigenetic, not traditional oncogenes/TSGs
|Regulatory/epigenetic, not traditional oncogenes/TSGs
|Common, MAF >1%
|Common, MAF >1%
Line 114: Line 113:
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
|-
|-
|''MAP2K1''; ???
|''MAP3K1''
|ERK1/2 cascade
|MAPK/ERK pathway
|Altered signal transduction
|Alters cell survival and signal transduction
|-
|-
|''FGFR2''; ???
|''FGFR2''
|FGF signaling
|FGF signaling
|Enhanced cell proliferation
|Increases proliferation
|-
|-
|''TOX3''; ???
|''TOX3''
|Transcriptional regulation
|Chromatin remodeling
|Affects chromatin remodeling
|Affects transcriptional regulation and stress response
|-
|-
|''ESR1''; ???
|''ESR1''
|Estrogen signaling
|Estrogen receptor signaling
|Influences hormone response in breast cancer
|Modulates hormonal response in luminal cells
|-
|-
|<span class="blue-text">EXAMPLE:</span> ''KMT2C'' and ''ARID1A''; Inactivating mutations
|CDKN2B
|<span class="blue-text">EXAMPLE:</span> Histone modification, chromatin remodeling
|Cell cycle checkpoint
|<span class="blue-text">EXAMPLE:</span> Abnormal gene expression program
|Dysregulates cell cycle progression
|}
|}
==Genetic Diagnostic Testing Methods==
==Genetic Diagnostic Testing Methods==
Retrieved from "https://test.ccga.io/index.php/BRST5:The_polygenic_component_of_breast_cancer_susceptibility"