Compendium of Cancer Genome Aberrations

GTS5:BRCA-related cancer predisposition syndrome (BRCA1, BRCA2): Difference between revisions

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!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
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|<span class="blue-text">EXAMPLE:</span> ''BRAF'' and ''MAP2K1''; Activating mutations
|'''BRCA1'''; Loss-of-function germline or somatic mutations
|<span class="blue-text">EXAMPLE:</span> MAPK signaling
|Homologous recombination (HR) DNA double-strand break repair; DNA damage response
|<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation
|Defective DNA repair leading to genomic instability and chromosomal aberrations; increased cancer susceptibility. Tumors demonstrate '''homologous recombination deficiency (HRD)''' and sensitivity to platinum agents and PARP inhibitors
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|<span class="blue-text">EXAMPLE:</span> ''CDKN2A''; Inactivating mutations
|'''BRCA2'''; Loss-of-function germline or somatic mutations
|<span class="blue-text">EXAMPLE:</span> Cell cycle regulation
|Homologous recombination DNA repair (RAD51 loading and stabilization)
|<span class="blue-text">EXAMPLE:</span> Unregulated cell division
|Impaired repair of DNA double-strand breaks, genomic instability, and tumorigenesis; HRD phenotype with therapeutic vulnerability to PARP inhibition
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|<span class="blue-text">EXAMPLE:</span> ''KMT2C'' and ''ARID1A''; Inactivating mutations
|'''PALB2'''; Inactivating mutations
|<span class="blue-text">EXAMPLE:</span> Histone modification, chromatin remodeling
|BRCA1–BRCA2–PALB2 DNA repair complex (HR pathway)
|<span class="blue-text">EXAMPLE:</span> Abnormal gene expression program
|Disruption of BRCA1–BRCA2 interaction, defective homologous recombination, and increased cancer risk similar to BRCA2-associated tumors
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|'''ATM'''; Inactivating mutations
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|DNA damage sensing and signaling (ATM–CHK2 pathway)
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|Impaired activation of DNA damage checkpoints, defective response to double-strand breaks, accumulation of genomic damage, and cancer predisposition
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==Genetic Diagnostic Testing Methods==
==Genetic Diagnostic Testing Methods==
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