ArticleBMC cancer2020
Mutation landscape of germline and somatic BRCA1/2 in patients with high-grade serous ovarian cancer.
Article in BMC cancer, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 40 citations in OpenAlex.
- Mutational Signature-Based Biomarker for Phase II Trial of Olaparib Maintenance in Advanced High-Grade Ovarian Cancer.Cancer science · 2026Trial
- Deciphering the Pleiotropic Role ofCells · 2026Article
- Efficacy and safety of PARP inhibitor maintenance therapy in elderly ovarian cancer patients: a real-world single-center retrospective cohort study.Frontiers in oncology · 2026Article
- Mutational landscape and risk estimates of DDR genes in Chinese ovarian cancer patients.Journal of ovarian research · 2025Article
- Comprehensive genomic profiling for homologous recombination deficiency guides PARP inhibitor therapy recommendations in ovarian cancer.Pathology oncology research : POR · 2025Article
- Tumor-infiltrating lymphocytes are the key determinants of pathological features associated with pathogenicFrontiers in medicine · 2025Article
- Review
- Chromosomal copy number and mutational status are required to authenticate ovarian cancer cell lines as appropriate cell models.Molecular biology reports · 2024Article
- A Stem-like Patient-Derived Ovarian Cancer Model of Platinum Resistance Reveals Dissociation of Stemness and Resistance.International journal of molecular sciences · 2024Article
- Next-generation sequencing-based analysis of homologous recombination repair gene variant in ovarian cancer.Heliyon · 2024Article
- BRCA2, PALB2, RECQL4 Germline Pathogenic Variants, and Somatic TP53 Mutation in Triple Metachronous Malignancies: A Case Report and Literature Review.International medical case reports journal · 2024Article
- Review
- BRCA Mutations-The Achilles Heel of Breast, Ovarian and Other Epithelial Cancers.International journal of molecular sciences · 2023Review
- Molecular Management of High-Grade Serous Ovarian Carcinoma.International journal of molecular sciences · 2022Review
- The Emerging Role of Chromatin Remodeling Complexes in Ovarian Cancer.International journal of molecular sciences · 2022Review
- Inhibiting DNA methylation and RNA editing upregulates immunogenic RNA to transform the tumor microenvironment and prolong survival in ovarian cancer.Journal for immunotherapy of cancer · 2022Article
- Characteristics of homologous recombination repair pathway genes mutation in ovarian cancers.Cancer innovation · 2022Article
- A commentary on the discrepancy between blood and tumour BRCA testing: An open question.BJOG : an international journal of obstetrics and gynaecology · 2022Article
- A Pan-Canadian Consensus Statement on First-Line PARP Inhibitor Maintenance for Advanced, High-Grade Serous and Endometrioid Tubal, Ovarian, and Primary Peritoneal Cancers.Current oncology (Toronto, Ont.) · 2022Article
- Appropriate Selection of PARP Inhibitors in Ovarian Cancer.Current treatment options in oncology · 2022Review
Corrections and comments
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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
backgroundPoly (ADP-ribose) polymerase inhibitors targeting BRCA1/2 mutations are available for treating patients with high-grade serous ovarian cancer. These treatments may be more appropriately directed to patients who might respond if the tumor tissue is additionally tested by next-generation sequencing with a multi-gene panel and Sanger sequencing of a blood sample. In this study, we compared the results obtained using the next-generation sequencing multi-gene panel to a known germline BRCA1/2 mutational state determined by conventional Sanger sequencing to evaluate the landscape of somatic mutations in high-grade serous ovarian cancer tumors.
methodsCancer tissue from 98 patients with high-grade serous ovarian cancer who underwent Sanger sequencing for germline BRCA1/2 analysis were consecutively analyzed for somatic mutations using a next-generation sequencing 170-gene panel.
resultsTwenty-four patients (24.5%) showed overall BRCA1/2 mutations. Seven patients (7.1%) contained only somatic BRCA1/2 mutations with wild-type germline BRCA1/2, indicating acquired mutation of BRCA1/2. Three patients (3.1%) showed reversion of germline BRCA1 mutations. Among the 14 patients (14.3%) with both germline and somatic mutations in BRCA1/2, two patients showed different variations of BRCA1/2 mutations. The next-generation sequencing panel test for somatic mutation detected other pathogenic variations including RAD51D and ARID1A, which are possible targets of poly (ADP-ribose) polymerase inhibitors. Compared to conventional Sanger sequencing alone, next-generation sequencing-based tissue analysis increased the number of candidates for poly (ADP-ribose) polymerase inhibitor treatment from 17.3% (17/98) to 26.5% (26/98).
conclusionsSomatic mutation analysis by next-generation sequencing, in addition to germline BRCA1/2 mutation analysis, should become the standard of care for managing women with high-grade serous ovarian cancer to widen the indication of poly (ADP-ribose) polymerase inhibitors.
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