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

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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, Gluckman, Eliane, Llera, Julian, Wang, Weidong, Livingston, David M, Joenje, Hans, de Winter, Johan P·2007·Nature Genetics

DOI 10.1038/ng1942

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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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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: Xia, Bing
Dorsman, Josephine C
Ameziane, Najim
Rooimans, Martin A
Sheng, Qing
Pals, Gerard
Wang, Weidong
Livingston, David M
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 2006-12-31
Volume: 39
Issue: 2
Pages: 159-161
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/ng1942
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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Fanconi anemia is associated with a defect in the BRCA2 partner PALB2

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