The DOI matches its Crossref record; 12 of the 12 references it cites were found in a registry or an index.
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia
Abstract
Seven Fanconi anemia-associated proteins (FANCA, FANCB, FANCC, FANCE, FANCF, FANCG and FANCL) form a nuclear Fanconi anemia core complex that activates the monoubiquitination of FANCD2, targeting FANCD2 to BRCA1-containing nuclear foci. Cells from individuals with Fanconi anemia of complementation groups D1 and J (FA-D1 and FA-J) have normal FANCD2 ubiquitination. Using genetic mapping, mutation identification and western-blot data, we identify the defective protein in FA-J cells as BRIP1 (also called BACH1), a DNA helicase that is a binding partner of the breast cancer tumor suppressor BRCA1.
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In the citing paper
“Of all the FANCJ germline mutations, the most common mutant allele is FANCJ R798x.”
From Hereditary Breast Cancer and the BRCA1-Associated FANCJ/BACH1/BRIP1 (2011) · cites this paper as [28]
In the citing paper
“Similarly, inheriting bi-allelic mutations in BACH1/FANCJ/ BRIP1 or PALB2/FANCN genes results in the FA subtypes FA-J or FA-N, respectively (Figure 1) [26–30].”
From Hereditary Breast Cancer and the BRCA1-Associated FANCJ/BACH1/BRIP1 (2011) · cites this paper as [28]
In the citing paper
“Along these lines, several FANCJ mutations targeting noncoding genomic DNA have been identified in both breast cancer and FA patients [28,43].”
From Hereditary Breast Cancer and the BRCA1-Associated FANCJ/BACH1/BRIP1 (2011) · cites this paper as [28]
Citations
Cites
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Cited by
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PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene
Rahman, N., Seal, S., Thompson, D. J., Kelly, P. F., Renwick, A., Elliott, A., Reid, S., Spanova, K., Barfoot, R., Chagtai, T., et al. (2006) · Nature Genetics · doi:10.1038/ng1959 · Cited by 1,026
Mitotic homologous recombination maintains genomic stability and suppresses tumorigenesis
Moynahan, M. E., & Jasin, M. (2010) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2851 · Cited by 959
Carboplatin in BRCA1/2-mutated and triple-negative breast cancer BRCAness subgroups: the TNT Trial
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Homologous Recombination and Human Health: The Roles of BRCA1, BRCA2, and Associated Proteins
Prakash, R., Zhang, Y., Feng, W., & Jasin, M. (2015) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a016600 · Cited by 869
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Metadata
- Authors
- Levran, O., Attwooll, C., Henry, R. T., Milton, K. L., Neveling, K., Rio, P., Batish, S. D., Kalb, R., Velleuer, E., Barral, S., Ott, J., Petrini, J., Schindler, D., Hanenberg, H., & Auerbach, A. D.
- Affiliations
- Rockefeller University (US)
- Memorial Sloan Kettering Cancer Center (US)
- University of Würzburg (DE)
- Heinrich Heine University Düsseldorf (DE)
- Corresponding author
- Auerbach, Arleen D
- ORCID
- Venue
- Nature Genetics
- Published
- 2005-08-21
- Volume
- 37
- Issue
- 9
- Pages
- 931-933
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2040881136
- Cited by
- 370
- References
- 12
- Citations by year
- 2026: 4 · 2025: 3 · 2024: 10 · 2023: 14 · 2022: 9 · 2021: 15 · 2020: 8 · 2019: 12 · 2018: 9 · 2017: 9 · 2016: 14 · 2015: 16 · 2014: 19 · 2013: 14 · 2012: 21
- FWCI
- 14.68
- Type
- journal article
- Language
- en
- Update notices
- erratum (2005-11-01)
- Open access
- closed
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Health Sciences › Medicine › Hematology › Blood disorders and treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Keywords
- BRIP1, BACH1, Fanconi anemia, FANCL, FANCD2 monoubiquitination, BRCA1, DNA helicase, DNA repair, gene mapping
- MeSH terms
- Cell Nucleus, Chromosomes, Human, Pair 17, DNA-Binding Proteins, Fanconi Anemia, Female, Humans, Male, Mutation, Nuclear Proteins, Pedigree, Blotting, Western, Cell Cycle Proteins, Microsatellite Repeats, RNA Helicases, Polymorphism, Single Nucleotide, Ubiquitin, Fanconi Anemia Complementation Group Proteins, Fanconi Anemia Complementation Group C Protein, Fanconi Anemia Complementation Group D2 Protein
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