Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer
Abstract
PALB2 was recently identified as a nuclear binding partner of BRCA2. Biallelic BRCA2 mutations cause Fanconi anemia subtype FA-D1 and predispose to childhood malignancies. We identified pathogenic mutations in PALB2 (also known as FANCN) in seven families affected with Fanconi anemia and cancer in early childhood, demonstrating that biallelic PALB2 mutations cause a new subtype of Fanconi anemia, FA-N, and, similar to biallelic BRCA2 mutations, confer a high risk of childhood cancer.
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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].”
From Hereditary Breast Cancer and the BRCA1-Associated FANCJ/BACH1/BRIP1 (2011) · cites this paper as [29]
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- Authors
- Reid, S., Schindler, D., Hanenberg, H., Barker, K., Hanks, S., Kalb, R., Neveling, K., Kelly, P., Seal, S., Freund, M., Wurm, M., Batish, S. D., Lach, F. P., Yetgin, S., Neitzel, H., Ariffin, H., Tischkowitz, M., Mathew, C. G., Auerbach, A. D., & Rahman, N.
- Affiliations
- Institute of Cancer Research (GB)
- University of Würzburg (DE)
- Indiana University Indianapolis (US)
- Heinrich Heine University Düsseldorf (DE)
- Cornell University (US)
- Rockefeller University (US)
- Hacettepe University (TR)
- Charité – Universitätsmedizin Berlin (DE)
- University Malaya Medical Centre (MY)
- Jewish General Hospital (CA)
- Guy's Hospital (GB)
- Corresponding author
- Rahman, Nazneen
- ORCID
- Venue
- Nature Genetics
- Published
- 2006-12-31
- Volume
- 39
- Issue
- 2
- Pages
- 162-164
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2128700722
- Cited by
- 642
- References
- 15
- Citations by year
- 2026: 4 · 2025: 14 · 2024: 23 · 2023: 25 · 2022: 21 · 2021: 31 · 2020: 22 · 2019: 36 · 2018: 20 · 2017: 29 · 2016: 28 · 2015: 32 · 2014: 33 · 2013: 42 · 2012: 36
- FWCI
- 20.96
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Research Portal (King's College London) (submittedVersion)
- Funders
- Wellcome Trust (068545/Z/02))
- National Heart, Lung, and Blood Institute (R37HL032987, R37 HL32987)
- National Cancer Institute (R01 CA82678, R01CA082678)
- 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
- PALB2, Fanconi anemia, biallelic variants, BRCA2, hereditary cancer predisposition, pathogenic variants
- MeSH terms
- Fanconi Anemia Complementation Group N Protein, Alleles, Breast Neoplasms, Child, Preschool, Fanconi Anemia, Humans, Infant, Mutation, Nuclear Proteins, Genetic Predisposition to Disease, Tumor Suppressor Proteins, Fanconi Anemia Complementation Group Proteins
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