Publications by authors named "Erica M Sanborn"
Fanconi anemia (FA) is a rare inherited disorder caused by pathogenic variants in one of 19 FANC genes. FA patients display congenital abnormalities, and develop bone marrow failure, and cancer susceptibility. We identified homozygous mutations in four FA patients and, in each case, only one parent carried the obligate mutant allele.
View Article and Find Full Text PDFArticle Synopsis
- - A patient with a Fanconi anemia-like condition has a new mutation (T131P) in the RAD51 gene, which is crucial for DNA repair through homologous recombination.
- - The mutant RAD51-T131P exhibits unusual properties: it has ATPase activity without the ability to pair DNA and negatively affects the normal RAD51 function in the cell.
- - Despite the mutation, the patient's cells can still perform homologous recombination due to a higher amount of normal RAD51, but they show increased sensitivity to crosslinking agents, signaling the importance of RAD51 in DNA repair beyond the homologous recombination process.
Fanconi anemia (FA) is a rare bone marrow failure and cancer predisposition syndrome resulting from pathogenic mutations in genes encoding proteins participating in the repair of DNA interstrand crosslinks (ICLs). Mutations in 17 genes (FANCA-FANCS) have been identified in FA patients, defining 17 complementation groups. Here, we describe an individual presenting with typical FA features who is deficient for the ubiquitin-conjugating enzyme (E2), UBE2T.
View Article and Find Full Text PDFArticle Synopsis
- Fanconi anemia (FA) is a rare inherited condition affecting about 1 in 100,000 to 200,000 live births, involving defects, bone marrow failure, and cancer risks.
- The link between FA and mutations in the BRCA2 gene became significant in 2002, highlighting its relevance in genetic counseling, especially concerning breast cancer.
- This review addresses essential topics for genetic counselors, such as FA overview, symptoms, management, genetics, testing options, and implications for family members.