ArticleInternational journal of cancer2020
Whole-exome sequencing of ovarian cancer families uncovers putative predisposition genes.
Article in International journal of cancer, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 15 citations in OpenAlex.
- Clinical Utility of Germline Whole-Exome Sequencing Beyond Multigene Panels in Hereditary Cancer.Genes · 2026Review
- Detection rates of multigene panel and exome testing in patients with previous negative BRCA1/2 results.Familial cancer · 2025Article
- Identifying the germline variation spectrum and predisposition genes in Chinese ovarian cancer using whole exome sequencing.BMC cancer · 2025Article
- Article
- A Swedish genome-wide haplotype association analysis identifies novel candidate loci associated with endometrial cancer risk.PloS one · 2025Article
- A prognostic model for ovarian neoplasms established by an integrated analysis of 1580 transcriptomic profiles.Scientific reports · 2023Article
- Hereditary cancer syndromes.World journal of clinical oncology · 2023Review
- Genetic analyses of DNA repair pathway associated genes implicate new candidate cancer predisposing genes in ancestrally defined ovarian cancer cases.Frontiers in oncology · 2023Article
- Article
- Whole-Genome Sequencing IdentifiesCancers · 2022Article
- Population-based targeted sequencing of 54 candidate genes identifiesJournal of medical genetics · 2021Article
- Peripheral bloodJournal of gynecologic oncology · 2021Article
- Identification of Tumor Microenvironment-Related Prognostic Biomarkers for Ovarian Serous Cancer 3-Year Mortality Using Targeted Maximum Likelihood Estimation: A TCGA Data Mining Study.Frontiers in genetics · 2021Article
- Review
- Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.Nature communications · 2020Article
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Authors and funding
19 authors at 2 institutions in 1 country.
Funding
Abstract
Despite the identification of several ovarian cancer (OC) predisposition genes, a large proportion of familial OC risk remains unexplained. We adopted a two-stage design to identify new OC predisposition genes. We first carried out a large germline whole-exome sequencing study on 158 patients from 140 families with significant OC history, but without evidence of genetic predisposition due to BRCA1/2. We then evaluated the potential candidate genes in a large case-control association study involving 381 OC cases in the Cancer Genome Atlas project and 27,173 population controls from the Exome Aggregation Consortium. Two new putative OC risk genes were identified, namely, ANKRD11, a putative tumor suppressor, and POLE, an enzyme involved in DNA repair and replication. These two genes likely confer moderate OC risk. We performed in vitro experiments and showed an ANKRD11 mutation identified in our patients markedly lowered the protein expression by compromising protein stability. Upon future validation and functional characterization, these genes may shed light on cancer etiology along with improving ascertainment power and preventive care of individuals at high risk of OC.
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