ArticleFrontiers in genetics2019
Exome Sequencing in
Article in Frontiers in genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- Summary ofGenes · 2020Pooled it
- Recent Advances in Genetic Testing and Clinical Management of Hereditary Breast and Ovarian Cancer (HBOC) in India.Cancer medicine · 2026Review
- Histomorphologic spectrum and genetic features of esophageal carcinomas with submucosal gland differentiation.Virchows Archiv : an international journal of pathology · 2026Article
- Analysing cell death patterns to predict outcomes and treatment options in patients with high-grade serous ovarian carcinoma.Scientific reports · 2026Article
- High-Throughput 96-Well Nanogroove-Enhanced Electrical Impedance Biosensor for Real-Time Label-Free Cancer Drug Screening.Advanced healthcare materials · 2025Article
- 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
- Periodic dietary restriction of animal products induces metabolic reprogramming in humans with effects on cardiometabolic health.npj metabolic health and disease · 2025Article
- High- and Moderate-Risk Variants Among Breast Cancer Patients and Healthy Donors Enrolled in Multigene Panel Testing in a Population of Central Russia.International journal of molecular sciences · 2024Article
- A method to comprehensively identify germline SNVs, INDELs and CNVs from whole exome sequencing data of BRCA1/2 negative breast cancer patients.NAR genomics and bioinformatics · 2024Article
- The impact of SETBP1 mutations in neurological diseases and cancer.Genes to cells : devoted to molecular & cellular mechanisms · 2023Review
- Identifying novel regulatory effects for clinically relevant genes through the study of the Greek population.BMC genomics · 2023Article
- Genetic analyses of DNA repair pathway associated genes implicate new candidate cancer predisposing genes in ancestrally defined ovarian cancer cases.Frontiers in oncology · 2023Article
- Transcriptome-wide association study reveals novel susceptibility genes for coronary atherosclerosis.Frontiers in cardiovascular medicine · 2023Article
- Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer.Human mutation · 2021Article
- Investigating the causal role of MRE11A p.E506* in breast and ovarian cancer.Scientific reports · 2021Article
- Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genesFrontiers in oncology · 2021Article
- Genome-Wide Identification of Rare and Common Variants Driving Triglyceride Levels in a Nevada Population.Frontiers in genetics · 2021Article
- NBEAL1 controls SREBP2 processing and cholesterol metabolism and is a susceptibility locus for coronary artery disease.Scientific reports · 2020Article
- Applications of Next Generation Sequencing to the Analysis of Familial Breast/Ovarian Cancer.High-throughput · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 7 institutions in 3 countries.
Funding
Abstract
Approximately 10% of breast cancer (BC) cases are hereditary BC (HBC), with HBC most commonly encountered in the context of hereditary breast and ovarian cancer (HBOC) syndrome. Although thousands of loss-of-function (LoF) alleles in over 20 genes have been associated with HBC susceptibility, the genetic etiology of approximately 50% of cases remains unexplained, even when polygenic risk models are considered. We focused on one of the least-studied European populations and applied whole-exome sequencing (WES) to 52 individuals from 17 Greek HBOC families, in which at least one patient was negative for known HBC risk variants. Initial screening revealed pathogenic variants in known cancer genes, including
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.