Fanconi anemia is associated with a defect in the BRCA2 partner PALB2.
Nat Genet
; 39(2): 159-61, 2007 Feb.
Article
in En
| MEDLINE
| ID: mdl-17200672
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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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Breast Neoplasms
/
Nuclear Proteins
/
Tumor Suppressor Proteins
/
BRCA2 Protein
/
Fanconi Anemia
Type of study:
Risk_factors_studies
Limits:
Humans
Language:
En
Journal:
Nat Genet
Journal subject:
GENETICA MEDICA
Year:
2007
Type:
Article
Affiliation country:
United States