Paper · 17033622
Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles.
Seal S and 17 others. Nat Genet, 2006. Cited by 547 papers, by iCite.
11 sourcespapers-2026-11-12-0.1.0
Cite this record
ConductScience Library. Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Papers, record 17033622. Release papers-2026-11-12-0.1.0, 12 Nov 2026. https://conductscience.org/library/papers/17033622
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Paper
PubMed's record of the paper, with iCite's citation figures. No abstract is shown.
Topics13
NLM's MeSH indexing of the paper, its major topics first.
| MeSH term | Major |
|---|---|
| Breast Neoplasms | Major topic |
| DNA-Binding Proteins | Major topic |
| Fanconi Anemia Complementation Group Proteins | Major topic |
| Penetrance | Major topic |
| RNA Helicases | Major topic |
| Adult | |
| Codon, Nonsense | |
| Gene Frequency | |
| Genetic Carrier Screening | |
| Genetic Predisposition to Disease | |
| Humans | |
| Middle Aged | |
| Pedigree |
Source PubMed
Grants3
Each grant PubMed's record writes, matched to the NIH project NIH's grant and paper links name for this paper, and each of those links the record does not write.
| Grant, as the record writes it | Agency | Country | NIH project | Stated by |
|---|---|---|---|---|
| 2003:592 | Breast Cancer Now | United Kingdom | PubMed | |
| G0000934 | Medical Research Council | United Kingdom | PubMed | |
| 068545/Z/02 | Wellcome Trust | United Kingdom | PubMed |
Source PubMed
Trials0
The trials whose ClinicalTrials.gov record lists the paper, and the trial numbers the paper's PubMed record names.
None in this release.
Comments and corrections0
PubMed's comments and corrections, NLM's own indexing: retractions first, then expressions of concern, errata and updates, and comments last.
None in this release.
References0
The papers the reference list in PubMed's record names, those in our copy of PubMed, in the list's order.
None in this release.
Cited by349
The papers in our copy of PubMed whose reference list names this one, newest first. iCite, which reads more sources, counts 547 citations.
| PMID | Title | Journal | Year | In Papers | Source |
|---|---|---|---|---|---|
| 42,938,317 | Familial Pancreatic Cancer Associated with a Shared BRIP1 Variant: Implications for Homologous Recombination Deficiency and Targeted Therapy. | Genes (Basel) | 2026 | https://conductscience.org/library/papers/42938317 | PubMed |
| 42,793,040 | The Significance of Somatic Variants Involved in the Development of Pancreatic Cancer in Patients with HBOC-Associated Germline Variants. | Genes (Basel) | 2026 | https://conductscience.org/library/papers/42793040 | PubMed |
| 42,702,687 | A Group Structure Guided Ultra-High Dimensional Feature Screening for Survival Outcome. | Stat Med | 2026 | https://conductscience.org/library/papers/42702687 | PubMed |
| 42,457,705 | Cryo-EM structures of human FANCJ reveal the mechanism of G-quadruplex unwinding and disease-associated mutations. | Nat Commun | 2026 | https://conductscience.org/library/papers/42457705 | PubMed |
| 42,045,749 | Pathogenic germline variants associated with different HER2 expression among breast cancer patients. | Discov Oncol | 2026 | https://conductscience.org/library/papers/42045749 | PubMed |
| 41,669,295 | Prevalence of Novel and Recurrent Pathogenic Variants in BRCA Genes in a Cohort of Iranian Hereditary Breast Cancer Patients. | Adv Biomed Res | 2025 | https://conductscience.org/library/papers/41669295 | PubMed |
| 41,596,682 | The Genetic and Molecular Analyses of Rare Candidate Germline BRIP1/FANCJ Variants Implicated in Hereditary Breast and Ovarian Cancers. | Int J Mol Sci | 2026 | https://conductscience.org/library/papers/41596682 | PubMed |
| 41,528,496 | Genetic tumor syndromes in female cancer: insights into inherited cancer predisposition and clinical implications. | Arch Gynecol Obstet | 2026 | https://conductscience.org/library/papers/41528496 | PubMed |
| 41,495,437 | BLM and FANCJ role in the response to G-quadruplex-dependent telomeric replicative stress. | Commun Biol | 2026 | https://conductscience.org/library/papers/41495437 | PubMed |
| 41,473,825 | Long-Term Survival With Olaparib Maintenance Therapy in Metastatic Pancreatic Carcinoma of a Patient Harboring Germline BRIP1 and ATM Mutations. | Case Rep Oncol Med | 2025 | https://conductscience.org/library/papers/41473825 | PubMed |
1 to 10 of 349
See all 349 cited byGenes3
The genes the Gene search release ties to the paper: Swiss-Prot's references first, then PubTator's text mining.
| Gene | NCBI Gene ID | Linked by | In Genes | Source |
|---|---|---|---|---|
| BRCA1 | 672 | PubTator's text mining | https://conductscience.org/library/genes/672 | NCBI Gene |
| BRCA2 | 675 | PubTator's text mining | https://conductscience.org/library/genes/675 | NCBI Gene |
| BRIP1 | 83,990 | PubTator's text mining | https://conductscience.org/library/genes/83990 | NCBI Gene |
Drugs0
The drugs whose trials, in the Pipelines release, list the paper.
None in this release.
Data0
The data bank entries PubMed's record names. Trial numbers are under Trials.
None in this release.
Data dates
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- Trials
- 2026-11-12
- Gene search
- 2026-11-11
- Pipelines
- 2026-09-18
Sources 11
- ChEMBL, through Open TargetsCC BY-SA 3.0
- ClinicalTrials.govNo license stated
- HGNCCC0
- iCiteCC BY 4.0
- NCBI GenePublic domain (US government)
- NIH RePORTER's grant and paper linksPublic domain
- Open TargetsCC0 1.0
- PMC's ID filePublic domain (US government)
- PubMedNLM's terms
- PubTator 3Public domain
- UniProtCC BY 4.0
Each source's terms
- ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- ClinicalTrials.govnone stated
- HGNCCC0: https://www.genenames.org/about/license/
- iCiteCC BY 4.0
- NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
- NIH RePORTER's grant and paper linksPublic domain (NIH RePORTER)
- Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
- PMC's ID fileNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
- PubMedNLM's terms
- PubTator 3Public domain
- UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license
ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.
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