Publications by authors named "Allana Rosenberg"
Fanconi anemia (FA) is a hereditary, DNA repair deficiency disorder caused by pathogenic variants in any 1 of 22 known genes (FANCA-FANCW). Variants in FANCA account for nearly two-thirds of all patients with FA. Clinical presentation of FA can be heterogeneous and include congenital abnormalities, progressive bone marrow failure, and predisposition to cancer.
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- - Fanconi anaemia (FA) is a genetic condition that makes DNA repair faulty, leading to chromosome breakage and a significantly higher risk of specific cancers such as head and neck, esophageal, and anogenital squamous cell carcinomas compared to the general population.
- - Research reveals that squamous cell carcinomas from FA patients exhibit numerous structural variants, which include small deletions and complex rearrangements, often occurring alongside loss of the TP53 gene but not related to HPV infections.
- - The instability caused by FA may trigger processes like epithelial-to-mesenchymal transition and heightened inflammatory signaling in skin cells, highlighting the potential for FA's unique genomic issues to inform understanding of sporadic HNSCC linked to tobacco and alcohol