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Homologous recombination deficiency: New biomarkers in innovative treatments

Homologous recombination deficiency: New biomarkers in innovative treatments editorial memo (2020) 13:357–358 https://doi.org/10.1007/s12254-020-00660-7 Homologous recombination deficiency: New biomarkers in innovative treatments Christian F. Singer © Springer-Verlag GmbH Austria, part of Springer Nature 2020 Homologous recombination(HR) is a key DNA repair tify an additional subset of PARPi-sensitive. These mechanism that is essential for maintaining genome tests identify both somatic and germline mutations in stability. It is characterized by its high fidelity and BRCA1/2 and in other HRR-related genes, and detect efficiency, and represents the pivotal repair mecha- the presence of genomic alterations indicative of HRD. nism for DNA double-strand breaks. Although known The so-called genomic “scars” are characterized by for years, its potential role as a therapeutic target telomer–allelic imbalances, large scale transitions and has only recently been elucidated: malignant breast loss of heterocytosity, and—when scored according and ovarian tumors with mutations in the breast to a specific algorithm—summarize the total burden cancer susceptibility genes BRCA1 and BRCA2,two of genomic burdeninaparticular tumor, andde- genes that are quintessential members of the homolo- scribe tumors that are potentially responsive to PARP gous recombination repair (HRR) pathway, have been inhibition. demonstrated to be particularly sensitive to poly- Several HRD assays have been developed and are ADP ribose polymerase inhibitors (PARPi), such http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png memo - Magazine of European Medical Oncology Springer Journals

Homologous recombination deficiency: New biomarkers in innovative treatments

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Publisher
Springer Journals
Copyright
2020 Springer-Verlag GmbH Austria, part of Springer Nature
ISSN
1865-5041
eISSN
1865-5076
DOI
10.1007/s12254-020-00660-7
Publisher site
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Abstract

editorial memo (2020) 13:357–358 https://doi.org/10.1007/s12254-020-00660-7 Homologous recombination deficiency: New biomarkers in innovative treatments Christian F. Singer © Springer-Verlag GmbH Austria, part of Springer Nature 2020 Homologous recombination(HR) is a key DNA repair tify an additional subset of PARPi-sensitive. These mechanism that is essential for maintaining genome tests identify both somatic and germline mutations in stability. It is characterized by its high fidelity and BRCA1/2 and in other HRR-related genes, and detect efficiency, and represents the pivotal repair mecha- the presence of genomic alterations indicative of HRD. nism for DNA double-strand breaks. Although known The so-called genomic “scars” are characterized by for years, its potential role as a therapeutic target telomer–allelic imbalances, large scale transitions and has only recently been elucidated: malignant breast loss of heterocytosity, and—when scored according and ovarian tumors with mutations in the breast to a specific algorithm—summarize the total burden cancer susceptibility genes BRCA1 and BRCA2,two of genomic burdeninaparticular tumor, andde- genes that are quintessential members of the homolo- scribe tumors that are potentially responsive to PARP gous recombination repair (HRR) pathway, have been inhibition. demonstrated to be particularly sensitive to poly- Several HRD assays have been developed and are ADP ribose polymerase inhibitors (PARPi), such

Journal

memo - Magazine of European Medical Oncology – Springer Journals

Published: Dec 1, 2020

Keywords: oncology; medicine/public health, general

References

  • Homologous recombination deficiency in epithelial ovarian cancer
    T Bartl, V Paspalj, C Grimm
  • Homologous repair deficiencies and current insights in clinical evaluation of PARP inhibitors in prostate cancer
    M Marhold, T Topakian
  • Homologous recombination deficiency in breast cancer
    T Bartl, A Farr
  • Tackling DNA damage repair mechanisms—a promising molecular informed therapeutic approach in pancreatic ductal adenocarcinoma
    B Doleschal