GTS5:BRCA-related cancer predisposition syndrome (BRCA1, BRCA2): Difference between revisions
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[[GTS5:Table_of_Contents|Genetic Tumour Syndromes (Who Classification, 5th ed.)]] | [[GTS5:Table_of_Contents|Genetic Tumour Syndromes (Who Classification, 5th ed.)]] | ||
==Primary Author(s)*== | ==Primary Author(s)*== | ||
<br /> | <br />Parisa Kargaran, Ph.D. | ||
==WHO Classification of Disease== | ==WHO Classification of Disease== | ||
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|DNA damage sensing and signaling (ATM–CHK2 pathway) | |DNA damage sensing and signaling (ATM–CHK2 pathway) | ||
|Impaired activation of DNA damage checkpoints, defective response to double-strand breaks, accumulation of genomic damage, and cancer predisposition | |Impaired activation of DNA damage checkpoints, defective response to double-strand breaks, accumulation of genomic damage, and cancer predisposition | ||
|- | |||
|'''CHEK2'''; Inactivating mutations | |||
|Cell-cycle checkpoint control and DNA damage response | |||
|Failure of G1/S and G2/M checkpoint arrest following DNA damage, allowing propagation of genomic instability | |||
|- | |||
|'''TP53'''; Inactivating or dominant-negative mutations | |||
|Cell-cycle regulation, apoptosis, genome integrity | |||
|Loss of DNA damage–induced cell-cycle arrest and apoptosis, enabling survival and expansion of genetically unstable cells | |||
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|'''RAD51C / RAD51D'''; Inactivating mutations | |||
|Homologous recombination DNA repair | |||
|mpaired strand invasion and repair of DNA double-strand breaks, contributing to HRD and hereditary cancer susceptibility | |||
|} | |} | ||
==Genetic Diagnostic Testing Methods== | ==Genetic Diagnostic Testing Methods== | ||