ArticleNature genetics2011
Mutations in BRIP1 confer high risk of ovarian cancer.
Article in Nature genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 209 papers, 8 of them syntheses that pooled it.
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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.
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Who cites it
209 citing papers in PubMed, 8 syntheses or guidelines pooled it, 427 citations in OpenAlex.
- Management of individuals with heterozygous germline pathogenic variants in RAD51C, RAD51D, and BRIP1: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2025Guideline
- BRIP1, RAD51C, and RAD51D mutations are associated with high susceptibility to ovarian cancer: mutation prevalence and precise risk estimates based on a pooled analysis of ~30,000 cases.Journal of ovarian research · 2020Pooled it
- Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.Communications biology · 2020Pooled it
- Germline and Somatic Tumor Testing in Epithelial Ovarian Cancer: ASCO Guideline.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2020Pooled it
- Pooled it
- Case-control association mapping by proxy using family history of disease.Nature genetics · 2017Pooled it
- Common variants at the CHEK2 gene locus and risk of epithelial ovarian cancer.Carcinogenesis · 2015Pooled it
- Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets.PLoS genetics · 2013Pooled it
- Candidate biomarkers of PARP inhibitor sensitivity in ovarian cancer beyond the BRCA genes.British journal of cancer · 2018Trial
- Rare loss of function variants in candidate genes and risk of colorectal cancer.Human genetics · 2018Trial
- BRIP1, a G-quadruplex DNA helicase, protects against AID-induced genomic instability by limiting R-loop accumulation.Molecular medicine (Cambridge, Mass.) · 2026Article
- Cryo-EM structures of human FANCJ reveal the mechanism of G-quadruplex unwinding and disease-associated mutations.Nature communications · 2026Article
- The Genetic and Molecular Analyses of Rare Candidate GermlineInternational journal of molecular sciences · 2026Article
- Genetic tumor syndromes in female cancer: insights into inherited cancer predisposition and clinical implications.Archives of gynecology and obstetrics · 2026Review
- Germline pathogenic variants detected by GenMineTOP: insight from a nationwide tumor/normal paired comprehensive genomic profiling test, in Japan.Journal of human genetics · 2026Article
- Metastasis of Pancreatic Intraductal Oncocytic Papillary Neoplasm to the Ovaries.Case reports in gastrointestinal medicine · 2026Article
- Clinical and Prognostic Relevance of BRIP1 Expression in Colorectal Cancer: Evidence from TCGA and Korean Cohorts.Medicina (Kaunas, Lithuania) · 2025Article
- 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
- Retrograde rearrangement of mitochondria correlates with nuclear deformation and genotoxic damage.iScience · 2025Article
- DNA repair and the contribution to chemotherapy resistance.Genome medicine · 2025Review
149 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
45 authors at 15 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ovarian cancer causes more deaths than any other gynecologic malignancy in developed countries. Sixteen million sequence variants, identified through whole-genome sequencing of 457 Icelanders, were imputed to 41,675 Icelanders genotyped using SNP chips, as well as to their relatives. Sequence variants were tested for association with ovarian cancer (N of affected individuals = 656). We discovered a rare (0.41% allelic frequency) frameshift mutation, c.2040_2041insTT, in the BRIP1 (FANCJ) gene that confers an increase in ovarian cancer risk (odds ratio (OR) = 8.13, P = 2.8 × 10(-14)). The mutation was also associated with increased risk of cancer in general and reduced lifespan by 3.6 years. In a Spanish population, another frameshift mutation in BRIP1, c.1702_1703del, was seen in 2 out of 144 subjects with ovarian cancer and 1 out of 1,780 control subjects (P = 0.016). This allele was also associated with breast cancer (seen in 6/927 cases; P = 0.0079). Ovarian tumors from heterozygous carriers of the Icelandic mutation show loss of the wild-type allele, indicating that BRIP1 behaves like a classical tumor suppressor gene in ovarian cancer.
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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.