Cited by 465DNA Repair MechanismsBRCA gene mutations in cancerBlood disorders and treatments

Fanconi anemia is associated with a defect in the BRCA2 partner PALB2

Xia, Bing, Dorsman, Josephine C, Ameziane, Najim, de Vries, Yne, Rooimans, Martin A, Sheng, Qing, Pals, Gerard, Errami, Abdellatif +6 more·2007·Nature Genetics

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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Crossref · 10.1038/ng1942

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  • 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].”

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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
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
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
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › 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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