Examining the prevalence of homologous recombination repair defects in ER+ breast cancers Journal Article
| Authors: | Moore, G. M.; Powell, S. N.; Higginson, D. S.; Khan, A. J. |
| Article Title: | Examining the prevalence of homologous recombination repair defects in ER+ breast cancers |
| Abstract: | Purpose: Homologous recombination deficiency (HRD) is well characterized in triple-negative breast cancer (TNBC), but its prevalence in the hormone-receptor-positive breast cancer subtypes is not as clearly defined. It is estimated that around 50–60% of TNBC cases are deficient in HR. We sought to identify HRD cases in ER+/Her2− patients using various mutational HRD signatures. Methods: We abstracted published HRD genomic signatures from the Pan-Cancer Analysis of Whole Genomes (PCAWG) database and compared the prevalence of HRD in ER+/Her2− breast cancer, comparing this to the control of set of triple-negative breast cancers. Results: In 78 patients with ER+/Her2− breast cancer, 13 patients have over a 70% probability of being HRD as measured by HRDetect, while 18 qualify as HRD based on HRD score, with an approximate prevalence of HRD ranging between 14 and 20% of cases. Conclusion: Our analyses suggest that 14% of ER+/Her2− patients may be HRD and therefore potentially eligible for treatments with HRD-directed therapies such as platinum agents and PARP inhibitors. As the ER+/Her2− subtype is the most common breast cancer subtype, this group of HRD patients is likely more sizable than that of HRD TNBC patients. © 2022, The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature. |
| Keywords: | gene mutation; major clinical study; genetics; mutation; homologous recombination; prevalence; breast neoplasms; oncogenes; oncogene; probability; breast tumor; triple negative breast cancer; estrogen receptor positive breast cancer; recombinational dna repair; recombination repair; humans; human; female; article; whole genome sequencing; triple negative breast neoplasms; parp inhibition; er+ breast cancer; hrd; genomic signatures; estrogen receptor-positive, her2-negative breast cancer |
| Journal Title: | Breast Cancer Research and Treatment |
| Volume: | 192 |
| Issue: | 3 |
| ISSN: | 0167-6806 |
| Publisher: | Springer |
| Date Published: | 2022-04-01 |
| Start Page: | 649 |
| End Page: | 653 |
| Language: | English |
| DOI: | 10.1007/s10549-022-06529-z |
| PUBMED: | 35092538 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | Article -- Export Date: 25 April 2022 -- Source: Scopus |
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