The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J
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The protein predicted to be defective in individuals with Fanconi anemia complementation group J (FA-J), FANCJ, is a missing component in the Fanconi anemia pathway of genome maintenance. Here we identify pathogenic mutations in eight individuals with FA-J in the gene encoding the DEAH-box DNA helicase BRIP1, also called FANCJ. This finding is compelling evidence that the Fanconi anemia pathway functions through a direct physical interaction with DNA.
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The most common FANCJ germline mutant allele is R798x.
“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 [27]
Bi-allelic mutations in BACH1/FANCJ/BRIP1 or PALB2/FANCN cause the FA subtypes FA-J or FA-N, respectively.
“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 [27]
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Self-citation
- Authors
- Levitus, M., Waisfisz, Q., Godthelp, B. C., Vries, Y. D., Hussain, S., Wiegant, W. W., Elghalbzouri-Maghrani, E., Steltenpool, J., Rooimans, M. A., Pals, G., Arwert, F., Mathew, C. G., Zdzienicka, M. Z., Hiom, K., De Winter, J. P., & Joenje, H.
- Affiliations
- Amsterdam UMC Location Vrije Universiteit Amsterdam (NL)
- Leiden University Medical Center (NL)
- Guy's Hospital (GB)
- MRC Laboratory of Molecular Biology (GB)
- Corresponding author
- Joenje, Hans
- ORCID
- Venue
- Nature Genetics
- Published
- 2005-08-21
- Volume
- 37
- Issue
- 9
- Pages
- 934-935
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2118726620
- Cited by
- 432
- References
- 11
- Citations by year
- 2026: 9 · 2025: 5 · 2024: 8 · 2023: 4 · 2022: 11 · 2021: 13 · 2020: 12 · 2019: 13 · 2018: 12 · 2017: 13 · 2016: 25 · 2015: 19 · 2014: 20 · 2013: 22 · 2012: 23
- FWCI
- 15.81
- Type
- journal article
- Language
- en
- Open access
- green
- research.vumc.nl
- Licence
- other-oa
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion, other-oa)
- Digital Academic REpository of VU University Amsterdam (Vrije Universiteit Amsterdam) (submittedVersion)
- Discovery Research Portal (University of Dundee) (submittedVersion)
- Research Portal (King's College London) (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
- Funders
- Francis Crick Institute
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Blood disorders and treatments
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Keywords
- BRIP1, FANCJ, Fanconi anemia pathway, DNA helicase, DEAH-box helicase, pathogenic variants, genome maintenance, DNA repair, hereditary cancer predisposition
- MeSH terms
- Chromosomes, Human, Pair 17, DNA-Binding Proteins, Fanconi Anemia, Genetic Complementation Test, Humans, Molecular Sequence Data, Mutation, Sequence Deletion, Microsatellite Repeats, RNA Helicases, Fanconi Anemia Complementation Group Proteins
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