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

Nadeem Riaz, Pedro Blecua, Raymond S. Lim, Ronglai Shen, Daniel S. Higginson, Nils Weinhold, Larry Norton, Britta Weigelt, Simon N. Powell () and Jorge S. Reis-Filho ()
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Nadeem Riaz: Memorial Sloan Kettering Cancer Center
Pedro Blecua: Memorial Sloan Kettering Cancer Center
Raymond S. Lim: Memorial Sloan Kettering Cancer Center
Ronglai Shen: Memorial Sloan Kettering Cancer Center
Daniel S. Higginson: Memorial Sloan Kettering Cancer Center
Nils Weinhold: Memorial Sloan Kettering Cancer Center
Larry Norton: Department of Medicine, Memorial Sloan Kettering Cancer Center
Britta Weigelt: Memorial Sloan Kettering Cancer Center
Simon N. Powell: Memorial Sloan Kettering Cancer Center
Jorge S. Reis-Filho: Memorial Sloan Kettering Cancer Center

Nature Communications, 2017, vol. 8, issue 1, 1-7

Abstract: Abstract BRCA1 and BRCA2 are involved in homologous recombination (HR) DNA repair and are germ-line cancer pre-disposition genes that result in a syndrome of hereditary breast and ovarian cancer (HBOC). Whether germ-line or somatic alterations in these genes or other members of the HR pathway and if mono- or bi-allelic alterations of HR-related genes have a phenotypic impact on other cancers remains to be fully elucidated. Here, we perform a pan-cancer analysis of The Cancer Genome Atlas (TCGA) data set and observe that bi-allelic pathogenic alterations in homologous recombination (HR) DNA repair-related genes are prevalent across many malignancies. These bi-allelic alterations often associate with genomic features of HR deficiency. Further, in ovarian, breast and prostate cancers, bi-allelic alterations are mutually exclusive of each other. The combination of these two properties facilitates reclassification of variants of unknown significance affecting DNA repair genes, and may help personalize HR directed therapies in the clinic.

Date: 2017
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DOI: 10.1038/s41467-017-00921-w

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