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Relationship between homologous recombination deficiency and clinical features of breast cancer based on genomic scar score

The Breast, ISSN: 0960-9776, Vol: 69, Page: 392-400
2023
  • 5
    Citations
  • 0
    Usage
  • 16
    Captures
  • 0
    Mentions
  • 0
    Social Media
Metric Options:   Counts1 Year3 Year

Metrics Details

  • Citations
    5
    • Citation Indexes
      5
  • Captures
    16

Article Description

Homologous recombination deficiency (HRD) phenotype will sensitize tumors to poly (ADP-ribose) polymerases inhibitors and platinum. However, previous studies did not focus on the prevalence of HRD among Chinese breast cancer (BC) patients. One hundred and forty-seven BC patients were included in this study. Their HRD status was assessed by Genomic Scar Score (GSS), which was determined according to the length, site, and type of copy number. HRD was defined as positive when a harmful BRCA1/2 mutation was detected or GSS ≥50. Our data revealed that 9.5% of the 147 patients tested positive for BRCA1/2 mutation, while approximately 34.7% were HRD-positive. For triple negative BC (TNBC), HRD positivity rate (60.5%) was higher than Luminal A (5.3%), Luminal B (HER2-) (28.8%), and Luminal B (HER2+) (31.6%) subgroups. HRD-positive tumors were more likely to be ER/PR-negative and exhibited higher Ki-67 expression. 50.0% of the HRD-positive patients achieved pathologic complete remission (pCR) after neoadjuvant therapy. HRD-positive patients tended to have a higher risk for cancer recurrence or metastasis compared to HRD-negative patients (29.4% vs. 13.5%). We investigated the HRD status among Chinese BC patients using an HRD detection tool developed based on the Chinese population. The clinical characteristics, pathological profile, family history pattern, neoadjuvant efficacy, and disease progression events of HRD-positive and negative patients were described and compared. Thus, our data provided an evidence-based basis for applying the original HRD assay in Chinese BC.

Bibliographic Details

Feng, Cong; Zhang, Yinbin; Wu, Fei; Li, Jia; Liu, Mengjie; Lv, Wei; Li, Chaofan; Wang, Weiwei; Tan, Qinghua; Xue, Xiaoyu; Ma, Xingcong; Zhang, Shuqun

Elsevier BV

Medicine; Biochemistry, Genetics and Molecular Biology

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