Compendium of Cancer Genome Aberrations

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

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|Book
|Book
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|Breast Tumours (5th ed.)
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|Category
|Category
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|Genetic tumour syndromes of the breast
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|Family
|Family
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|Syndromes
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|Type
|Type
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|Polygenetic component of breast cancer susceptibility
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|Subtype(s)
|Subtype(s)
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|N/A
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|Acceptable
|Acceptable
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|N/A
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|Not Recommended
|Not Recommended
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|N/A
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Polygenic breast cancer risk; Common low-penetrance breast cancer alleles
Polygenic breast cancer risk; Common low-penetrance breast cancer alleles
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!Notes
!Notes
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|<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
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|<span class="blue-text">EXAMPLE:</span> Gene X
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|<span class="blue-text">EXAMPLE:</span> List the specific mutation
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'''PLEASE PUT CONTENT FROM OLD TABLE BELOW WHERE YOU WANT IT AND THEN DELETE THE OLD TABLE.'''
{| class="wikitable sortable"
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!Notes
!Notes
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|Multiple SNPs (e.g., FGFR2, MAP3K1, TOX3)
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|Regulatory/epigenetic, not traditional oncogenes/TSGs
|Common, MAF >1%
|Varies
|Varies
|No
|Limited
|Yes (PRS applications
|Target gene expression changes may affect oncogenic pathways
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{| class="wikitable sortable"
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!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
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|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%
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!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
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|''MAP2K1''; ???
|''MAP3K1''
|ERK1/2 cascade
|MAPK/ERK pathway
|Altered signal transduction
|Alters cell survival and signal transduction
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|''FGFR2''; ???
|''FGFR2''
|FGF signaling
|FGF signaling
|Enhanced cell proliferation
|Increases proliferation
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|''TOX3''; ???
|''TOX3''
|Transcriptional regulation
|Chromatin remodeling
|Affects chromatin remodeling
|Affects transcriptional regulation and stress response
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|''ESR1''; ???
|''ESR1''
|Estrogen signaling
|Estrogen receptor signaling
|Influences hormone response in breast cancer
|Modulates hormonal response in luminal cells
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|<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==
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