Breast cancer and Fanconi anemia: what are the connections?
Surprisingly, biallelic mutations in the BRCA2 breast-cancer-susceptibility gene were found in Fanconi anemia (FA), a rare hereditary disorder characterized by chromosomal instability, hypersensitivity to DNA cross-linking agents, and cancer susceptibility. This suggests that a defect in the FA pathway might predispose to familial breast cancer. A previously reported molecular interaction between BRCA1 and the FA protein, FANCD2, supports the hypothesis that both breast-cancer-susceptibility genes are components of the FA pathway, functioning in DNA-damage response. However, an alternative hypothesis, that group FA-D1 with mutated BRCA2 represents a FA-like syndrome that is involved in a pathway distinct from the FA pathway, cannot be excluded. Similar syndromes would also be expected when recombination genes, such as Rad51 and its paralogs, are mutated.
Zdzienicka
Malgorzata Z
MZ
Arwert
Fré
F
D001943:Breast Neoplasms / Q000235:genetics* / Q000378:metabolism; D004268:DNA-Binding Proteins / Q000235:genetics / Q000378:metabolism; D005199:Fanconi Anemia / Q000235:genetics* / Q000378:metabolism; D052236:Fanconi Anemia Complementation Group D2 Protein; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics / Q000378:metabolism; D010641:Phenotype; D051135:Rad51 Recombinase
D004268:DNA-Binding Proteins; C499905:FANCD2 protein, human; D052236:Fanconi Anemia Complementation Group D2 Protein; D009687:Nuclear Proteins; C495153:RAD51 protein, human; D051135:Rad51 Recombinase