ArticleNature communications2020
Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.
Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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
25 citing papers in PubMed, 35 citations in OpenAlex.
- High expression of FBLIM1 as a potential biomarker for early detection of HNSCC tumorigenesis and predicts poor survival.Odontology · 2026Article
- Investigating the contribution of rare non-coding variants in BRCA1, BRCA2 and PALB2 to hereditary breast cancer.NPJ breast cancer · 2026Article
- Identifying the germline variation spectrum and predisposition genes in Chinese ovarian cancer using whole exome sequencing.BMC cancer · 2025Article
- Exome sequencing identifies HELB as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovarian cancer.European journal of human genetics : EJHG · 2025Article
- Assessment of candidate high-grade serous ovarian carcinoma predisposition genes through integrated germline and tumour sequencing.NPJ genomic medicine · 2025Article
- Exome sequencing identifiesmedRxiv : the preprint server for health sciences · 2024Article
- The role ofJournal of pharmaceutical analysis · 2023Review
- Early-Onset Ovarian Cancer <30 Years: What Do We Know about Its Genetic Predisposition?International journal of molecular sciences · 2023Review
- Landscape of germline pathogenic variants in patients with dual primary breast and lung cancer.Human genomics · 2023Article
- Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.Journal of ovarian research · 2023Article
- MOBILE pipeline enables identification of context-specific networks and regulatory mechanisms.Nature communications · 2023Article
- Olaparib-ResistantCells · 2023Article
- Genomic Analyses of Germline and Somatic Variation in High-Grade Serous Ovarian Cancer.Research square · 2023Article
- Is Reflex GermlineCancers · 2023Article
- Molecular Genetic Characteristics ofGenes · 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
- Copy Number Variants Are Ovarian Cancer Risk Alleles at Known and Novel Risk Loci.Journal of the National Cancer Institute · 2022Article
- Rare germline deleterious variants increase susceptibility for lung cancer.Human molecular genetics · 2022Article
- Transcriptomics and quantitative proteomics reveal changes after second stimulation of bone marrow-derived macrophages from lupus-prone MRL/lpr mice.Frontiers in immunology · 2022Article
- A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene.Genome medicine · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
High-grade serous ovarian carcinoma (HGSOC) has a significant hereditary component, approximately half of which cannot be explained by known genes. To discover genes, we analyse germline exome sequencing data from 516 BRCA1/2-negative women with HGSOC, focusing on genes enriched with rare, protein-coding loss-of-function (LoF) variants. Overall, there is a significant enrichment of rare protein-coding LoF variants in the cases (p < 0.0001, chi-squared test). Only thirty-four (6.6%) have a pathogenic variant in a known or proposed predisposition gene. Few genes have LoF mutations in more than four individuals and the majority are detected in one individual only. Forty-three highly-ranked genes are identified with three or more LoF variants that are enriched by three-fold or more compared to GnomAD. These genes represent diverse functional pathways with relatively few involved in DNA repair, suggesting that much of the remaining heritability is explained by previously under-explored genes and pathways.
Indexed as
Identifiers
What OpenQuestion holds
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.