Bi-allelic Variants and HRD

[PMID: 29021619] [Nature Communications]

Pan-cancer analysis of bi-allelic alterations in homologous recombination DNA repair genes

“over 5% of all cancers harbor bi-allelic pathogenic mutations in HR-related genes” “bi-allelic alterations in HR DNA repair-related genes occur across cancer types, are mutually exclusive, and are associated with genomics features consistent with lack of competent HR DNA repair” mono-allelic alterations are not associated with HDR.

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