RGD Reference Report - Biallelic inactivation of BRCA2 in Fanconi anemia. - Rat Genome Database

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Biallelic inactivation of BRCA2 in Fanconi anemia.

Authors: Howlett, NG  Taniguchi, T  Olson, S  Cox, B  Waisfisz, Q  De Die-Smulders, C  Persky, N  Grompe, M  Joenje, H  Pals, G  Ikeda, H  Fox, EA  D'Andrea, AD 
Citation: Howlett NG, etal., Science 2002 Jul 26;297(5581):606-9. Epub 2002 Jun 13.
RGD ID: 734658
Pubmed: PMID:12065746   (View Abstract at PubMed)
DOI: DOI:10.1126/science.1073834   (Journal Full-text)

Fanconi anemia (FA) is a rare autosomal recessive cancer susceptibility disorder characterized by cellular hypersensitivity to mitomycin C (MMC). Six FA genes have been cloned, but the gene or genes corresponding to FA subtypes B and D1 remain unidentified. Here we show that cell lines derived from FA-B and FA-D1 patients have biallelic mutations in BRCA2 and express truncated BRCA2 proteins. Functional complementation of FA-D1 fibroblasts with wild-type BRCA2 complementary DNA restores MMC resistance. Our results link the six cloned FA genes with BRCA1 and BRCA2 in a common pathway. Germ-line mutation of genes in this pathway may result in cancer risks similar to those observed in families with BRCA1 or BRCA2 mutations.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
BRCA2HumanFanconi anemia susceptibilityIAGP DNA:mutationRGD 
Brca2RatFanconi anemia susceptibilityISOBRCA2 (Homo sapiens)DNA:mutationRGD 
Brca2MouseFanconi anemia susceptibilityISOBRCA2 (Homo sapiens)DNA:mutationRGD 

Objects Annotated

Genes (Rattus norvegicus)
Brca2  (BRCA2, DNA repair associated)

Genes (Mus musculus)
Brca2  (breast cancer 2, early onset)

Genes (Homo sapiens)
BRCA2  (BRCA2 DNA repair associated)


Additional Information