ArticleScientific reports2019
Germline and somatic mutations of homologous recombination-associated genes in Japanese ovarian cancer patients.
Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 2 of them syntheses that pooled it.
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Who cites it
29 citing papers in PubMed, 2 syntheses or guidelines pooled it, 58 citations in OpenAlex.
- The prevalence of mismatch repair deficiency in ovarian cancer: A systematic review and meta-analysis.International journal of cancer · 2022Pooled it
- Summary ofGenes · 2020Pooled it
- Association of homologous recombination repair gene mutation with clinical prognosis in histological subtypes of epithelial ovarian cancer patients.Journal of gynecologic oncology · 2026Article
- Homologous Recombination Deficiency and Survival in Ovarian High-Grade Serous Carcinoma by Self-Reported Race.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2025Article
- Multigene germline and somatic testing for epithelial ovarian cancer in China.NPJ precision oncology · 2025Article
- Establishment of a Novel In Vitro and In Vivo Model to Understand Molecular Carcinogenesis of Endometriosis-Related Ovarian Neoplasms.International journal of molecular sciences · 2025Article
- Beyond the BRCA1/2 genes in ovarian cancer: the role of germline pathogenic variants in the ATM gene.Molecular biology reports · 2025Article
- Integrated genomic/epigenomic analysis stratifies subtypes of clear cell ovarian carcinoma, highlighting their cellular origin.Scientific reports · 2024Article
- Proteomic landscape of epithelial ovarian cancer.Nature communications · 2024Article
- The prognostic and predictive value of homologous recombination deficiency status in patients with advanced stage epithelial ovarian carcinoma after first-line platinum-based chemotherapy.Frontiers in oncology · 2024Article
- miRNA Expression Profiles in Ovarian Endometriosis and Two Types of Ovarian Cancer-Endometriosis-Associated Ovarian Cancer and High-Grade Ovarian Cancer.International journal of molecular sciences · 2023Article
- Pembrolizumab and lenvatinib in recurrent ovarian clear cell carcinoma resistant to chemotherapy.Gynecologic oncology reports · 2023Article
- Genomic landscapes of ovarian clear cell carcinoma from latin countries reveal aberrations linked to survival and progression.BMC cancer · 2023Article
- A comprehensive molecular analysis of 113 primary ovarian clear cell carcinomas reveals common therapeutically significant aberrations.Diagnostic pathology · 2023Article
- Spatial genomic diversity associated with APOBEC mutagenesis in squamous cell carcinoma arising from ovarian teratoma.Cancer science · 2023Article
- DNA Damage Response Alterations in Ovarian Cancer: From Molecular Mechanisms to Therapeutic Opportunities.Cancers · 2023Review
- Maintenance therapy for newly diagnosed epithelial ovarian cancer- a review.Journal of ovarian research · 2022Review
- Epithelial Ovarian Cancer: Providing Evidence of Predisposition Genes.International journal of environmental research and public health · 2022Review
- Germline mutations in Chinese ovarian cancer with or without breast cancer.Molecular genetics & genomic medicine · 2022Article
- Mutation Landscape of Homologous Recombination Repair Genes in Epithelial Ovarian Cancer in China and Its Relationship With Clinicopathlological Characteristics.Frontiers in oncology · 2022Article
Corrections and comments
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Authors and funding
17 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We explored the frequency of germline and somatic mutations in homologous recombination (HR)-associated genes in major histological types of ovarian cancer. We performed targeted sequencing to assess germline and somatic mutations of 16 HR-associated genes and 4 mismatch repair (MMR) genes among 207 ovarian cancer patients (50 high-grade serous carcinomas (HGSC), 99 clear cell carcinomas (CCC), 39 endometrioid carcinomas (EC), 13 mucinous carcinomas (MC), and 6 low-grade serous carcinomas (LGSC)). Germline or somatic mutations of HR-associated genes were detected in 44% of HGSC, 28% of CCC, 23% of EC, 16% of MC, and 17% of LGSC patients. The profile of HR-associated gene mutations was remarkably different among each histological type. Germline BRCA1/2 mutations were frequently detected in HGSC and were rarely observed in CCC, EC, and MC patients. ATM somatic mutation was more frequently detected in CCC (9%) and EC patients (18%) than in HGSC patients (4%). There was a positive correlation between MMR gene mutations and HR-associated gene mutations (p = 0.0072). Our findings might be useful in selection of ovarian cancer patients that should be treated with PARP inhibitors.
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