The DOI matches its Crossref record; 11 of the 11 references it cites were found in a registry or an index.
Fanconi anemia is associated with a defect in the BRCA2 partner PALB2
Abstract
The Fanconi anemia and BRCA networks are considered interconnected, as BRCA2 gene defects have been discovered in individuals with Fanconi anemia subtype D1. Here we show that a defect in the BRCA2-interacting protein PALB2 is associated with Fanconi anemia in an individual with a new subtype. PALB2-deficient cells showed hypersensitivity to cross-linking agents and lacked chromatin-bound BRCA2; these defects were corrected upon ectopic expression of PALB2 or by spontaneous reversion.
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“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 [30]
Citations
Cites
Schouten, J. P. (2002) · Nucleic Acids Research · doi:10.1093/nar/gnf056 · Cited by 2,705
Alu repeats and human genomic diversity
Batzer, M., & Deininger, P. (2002) · Nature reviews genetics · doi:10.1038/nrg798 · Cited by 1,522
Biallelic Inactivation of BRCA2 in Fanconi Anemia
Howlett, N. G., Taniguchi, T., Olson, S., Cox, B., Waisfisz, Q., de Die-Smulders, C., Persky, N., Grompe, M., Joenje, H., Pals, G., et al. (2002) · Science · doi:10.1126/science.1073834 · Cited by 1,149
Self-citationControl of BRCA2 Cellular and Clinical Functions by a Nuclear Partner, PALB2
Xia, B., Sheng, Q., Nakanishi, K., Ohashi, A., Wu, J., Christ, N., Liu, X., Jasin, M., Couch, F. J., & Livingston, D. M. (2006) · Molecular Cell · doi:10.1016/j.molcel.2006.05.022 · Cited by 861
Self-citationThe DNA helicase BRIP1 is defective in Fanconi anemia complementation group J
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., et al. (2005) · Nature Genetics · doi:10.1038/ng1625 · Cited by 432
Self-citationMolecular pathogenesis of Fanconi anemia: recent progress
Taniguchi, T., & D’Andrea, A. D. (2006) · Blood · doi:10.1182/blood-2005-10-4240 · Cited by 390
Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2
Alter, B. P., Rosenberg, P. S., & Brody, L. C. (2006) · Journal of Medical Genetics · doi:10.1136/jmg.2006.043257 · Cited by 342
Waisfisz, Q., Morgan, N. V., Savino, M., de Winter, J. P., van Berkel, C. G. M., Hoatlin, M. E., Ianzano, L., Gibson, R. A., Arwert, F., Savoia, A., et al. (1999) · Nature Genetics · doi:10.1038/11956 · Cited by 208
Self-citationThe infant with a vascular tumor
Mueller, B. U., & Mulliken, J. B. (1999) · Seminars in Perinatology · doi:10.1016/s0146-0005(99)80041-x · Cited by 82
Bermejo, J. L., & Hemminki, K. (2004) · Annals of Oncology · doi:10.1093/annonc/mdh474 · Cited by 77
Research works printed but not linked: 2
- Levitus, M. et al. Cell Oncol. 28, 3–29 (2006).
- Friedenson, B. MedGenMed 7, 60 (2005).
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Li, X., & Heyer, W. (2008) · Cell Research · doi:10.1038/cr.2008.1 · Cited by 1,203
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Sakai, W., Swisher, E. M., Karlan, B. Y., Agarwal, M. K., Higgins, J., Friedman, C., Villegas, E., Jacquemont, C., Farrugia, D. J., Couch, F. J., et al. (2008) · Nature · doi:10.1038/nature06633 · Cited by 1,086
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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
Metadata
- Authors
- Xia, B., Dorsman, J. C., Ameziane, N., de Vries, Y., Rooimans, M. A., Sheng, Q., Pals, G., Errami, A., Gluckman, E., Llera, J., Wang, W., Livingston, D. M., Joenje, H., & de Winter, J. P.
- Affiliations
- Harvard University (US)
- Amsterdam UMC Location Vrije Universiteit Amsterdam (NL)
- MRC Holland (Netherlands) (NL)
- National Institutes of Health (US)
- Corresponding author
- Livingston, David M
- ORCID
- Venue
- Nature Genetics
- Published
- 2006-12-31
- Volume
- 39
- Issue
- 2
- Pages
- 159-161
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2071782656
- Cited by
- 465
- References
- 11
- Citations by year
- 2026: 5 · 2025: 10 · 2024: 14 · 2023: 20 · 2022: 16 · 2021: 13 · 2020: 14 · 2019: 18 · 2018: 17 · 2017: 21 · 2016: 11 · 2015: 20 · 2014: 32 · 2013: 38 · 2012: 25
- FWCI
- 16.70
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health
- National Cancer Institute
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Health Sciences › Medicine › Hematology › Blood disorders and treatments
- Keywords
- Fanconi anemia, PALB2, BRCA2, DNA repair, spontaneous reversion, ectopic expression
- MeSH terms
- Fanconi Anemia Complementation Group N Protein, Breast Neoplasms, Fanconi Anemia, Humans, Mutation, Nuclear Proteins, Genetic Predisposition to Disease, BRCA2 Protein, Tumor Suppressor Proteins, Fanconi Anemia Complementation Group Proteins
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