ArticleJournal of gynecologic oncology2017
Germline and somatic mutations in homologous recombination genes among Chinese ovarian cancer patients detected using next-generation sequencing.
Article in Journal of gynecologic oncology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 2 of them syntheses that pooled it.
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26 citing papers in PubMed, 2 syntheses or guidelines pooled it, 44 citations in OpenAlex.
- Summary ofGenes · 2020Pooled it
- BRIP1, RAD51C, and RAD51D mutations are associated with high susceptibility to ovarian cancer: mutation prevalence and precise risk estimates based on a pooled analysis of ~30,000 cases.Journal of ovarian research · 2020Pooled it
- A comprehensive genomic framework for identifying genes predisposing to homologous recombination repair-deficient breast or ovarian cancer.BJC reports · 2026Article
- Prevalence of BRCA1/2 Mutation in High-Grade Non-Mucinous Ovarian Carcinoma.Asian Pacific journal of cancer prevention : APJCP · 2025Observational
- CD47-a novel prognostic predicator in epithelial ovarian cancer and correlations with clinicopathological and gene mutation features.World journal of surgical oncology · 2024Article
- Early-Onset Ovarian Cancer <30 Years: What Do We Know about Its Genetic Predisposition?International journal of molecular sciences · 2023Review
- DNA Damage Response Alterations in Ovarian Cancer: From Molecular Mechanisms to Therapeutic Opportunities.Cancers · 2023Review
- Potential prognostic role of somatic mutations in a set of cancer susceptibility genes in ovarian carcinoma: A follow-up multicentric study from Pakistan.Cancer biomarkers : section A of Disease markers · 2023Article
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- Overview on population screening for carriers with germline BRCA mutation in China.Frontiers in oncology · 2022Review
- Homologous Recombination Deficiency in Ovarian, Breast, Colorectal, Pancreatic, Non-Small Cell Lung and Prostate Cancers, and the Mechanisms of Resistance to PARP Inhibitors.Frontiers in oncology · 2022Review
- Mutation Landscape of Homologous Recombination Repair Genes in Epithelial Ovarian Cancer in China and Its Relationship With Clinicopathlological Characteristics.Frontiers in oncology · 2022Article
- Prevalence and clinical characterization of BRCA1 and BRCA2 mutations in Korean patients with epithelial ovarian cancer.Cancer science · 2021Observational
- Homologous recombination repair gene mutations show no survival benefits in Chinese high-grade serous ovarian cancer patients.Annals of translational medicine · 2021Article
- Familial Breast Cancer: Disease Related Gene Mutations and Screening Strategies for Chinese Population.Frontiers in oncology · 2021Review
- Performance evaluation of an amplicon-based next-generation sequencing panel for BRCA1 and BRCA2 variant detection.Journal of clinical laboratory analysis · 2020Article
- Identification of Somatically AcquiredClinical cancer research : an official journal of the American Association for Cancer Research · 2020Article
- Prevalence of Tissue BRCA Gene Mutation in Ovarian, Fallopian Tube, and Primary Peritoneal Cancers: A Multi-Institutional Study.Asian Pacific journal of cancer prevention : APJCP · 2020Article
- Are Pathogenic Germline Variants in Metastatic Melanoma Associated with Resistance to Combined Immunotherapy?Cancers · 2020Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo define genetic profiling of homologous recombination (HR) deficiency in Chinese ovarian cancer patients.
methodswe have applied next-generation sequencing to detect deleterious mutations through all exons in 31 core HR genes. Paired whole blood and frozen tumor samples from 50 Chinese women diagnosed with epithelial ovarian carcinomas were tested to identify both germline and somatic variants.
resultsDeleterious germline HR-mutations were identified in 36% of the ovarian cancer patients. Another 5 patients had only somatic mutations. BRCA2 was most frequently mutated. Three out of the 5 somatic mutations were in RAD genes and a wider distribution of other HR genes was involved in non-serous carcinomas. BRCA1/2-mutation carriers had favorable platinum sensitivity (relative risk, 1.57, p<0.05), resulting in a 100% remission probability and survival rate. In contrast, mutations in other HR genes predicted poor prognosis. However, multivariate analysis demonstrated that platinum sensitivity and optimal cytoreduction were the independent impact factors influencing survival (hazards ratio, 0.053) and relapse (hazards ratio, 0.247), respectively.
conclusionour results suggest that a more comprehensive profiling of HR defect than merely BRCA1/2 could help elucidate tumor heterogeneity and lead to better stratification of ovarian cancer patients for individualized clinical management.
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