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

Author

Listed:
  • Nadeem Riaz

    (Memorial Sloan Kettering Cancer Center)

  • Pedro Blecua

    (Memorial Sloan Kettering Cancer Center)

  • Raymond S. Lim

    (Memorial Sloan Kettering Cancer Center
    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
    Memorial Sloan Kettering Cancer Center)

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.

Suggested Citation

  • Nadeem Riaz & Pedro Blecua & Raymond S. Lim & Ronglai Shen & Daniel S. Higginson & Nils Weinhold & Larry Norton & Britta Weigelt & Simon N. Powell & Jorge S. Reis-Filho, 2017. "Pan-cancer analysis of bi-allelic alterations in homologous recombination DNA repair genes," Nature Communications, Nature, vol. 8(1), pages 1-7, December.
    • Handle: RePEc:nat:natcom:v:8:y:2017:i:1:d:10.1038_s41467-017-00921-w
    DOI: 10.1038/s41467-017-00921-w
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    Cited by:

    1. Qiwei Wang & Johann S. Bergholz & Liya Ding & Ziying Lin & Sheheryar K. Kabraji & Melissa E. Hughes & Xiadi He & Shaozhen Xie & Tao Jiang & Weihua Wang & Jason J. Zoeller & Hye-Jung Kim & Thomas M. Ro, 2022. "STING agonism reprograms tumor-associated macrophages and overcomes resistance to PARP inhibition in BRCA1-deficient models of breast cancer," Nature Communications, Nature, vol. 13(1), pages 1-17, December.

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