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Archive > Volume 30 Issue 12 > 2023,30(12):1082-1087. DOI:10.3872/j.issn.1007-385X.2023.12.007 Prev Next
Clinical Research
The status of homologous recombination deficiency and BRCA1/2 gene mutation in ovarian cancer patients in the Yunnan region and their clinical significance
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Abstract:
Objective: To evaluate the HRD (homologous recombination deficiency) status of ovarian cancer patients in the Yunnan region using a HRD detection system developed on polymorphic loci specific to the Chinese population. Methods: A total of 248 ovarian cancer patients admitted to the Yunnan Tumor Hospital between January 2021 and May 2023 were included in this study. The HRD status was evaluated using either the Genomic Scar Score (GSS), which is primarily based on copy number length, type, location,and genomic breakpoints, or the HRD score (a combination of three genomic instability events: allelic loss of heterozygosity (LOH),telomeric allelic imbalance (TAI), and large-scale state transitions (LST)). HRD was defined as positive when the tissue sample had a GSS≥50 or HRD≥42 score, or when harmful BRCA1/2 gene mutation was detected. Results: The study showed that approximately 70.97% of the 248 ovarian cancer patients had a positive HRD status, with a BRCA1/2 gene mutation rate of 30.65%. Stage Ⅲ to Ⅵ stage patients and patients with high-grade serous adenocarcinoma had a higher HRD positivity rate (both P<0.01), and patients with higher HRD scores had a higher frequency of co-occurring other gene mutations (P<0.05). HRD status was associated with pathlogical type, clinical stage and other gene mutations in ovarian cancar (all P<0.01). Conclusion: Ovarian cancer patients in the Yunnan region have a high HRD positivity rate, suggesting that a significant proportion of ovarian cancer patients in this region may benefit from treatment with poly (ADP-ribose) polymerase (PARP) inhibitors.
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