Oncology 401 Lecture 14 2013

Fanconi anemia fa a rare autosomal recessive disease

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Unformatted text preview: from nucleo7de deple7on •  Replica7on stress results in stalled replica7on forks, which can lead to ds DNA breaks •  These ds DNA breaks occur more frequently if there are defects in DNA repair pathways involved in repairing stalled forks (FA pathway). Fanconi Anemia (FA) •  A rare autosomal recessive disease characterized by congenital abnormali7es, progressive bone marrow failure and cellular sensi7vity to DNA cross- linking agents Aplas7c anemia Bone Marrow Failure (90%) Acute Myelogenous Leukemia (AML) Skeletal abnormali7es (51%) Small head and eyes (26%) Abnormal reproduc7ve organs (35%) Solid Tumors (Squamous Cell Carcinomas, SCCs) •  Cells derived from FA pa7ents display hypersensi7vity to DNA cross- linking chemical agents (MMC and diepoxybutane) •  Chromosomal abnormali7es (transloca7ons and radial chromosomes) - > A chromosomal instability syndrome. •  Involves cellular 13 genes (FA genes) associated with a DNA damage response pathway called FA pathway •  FA pa7ents have an increased risk for squamous cell carcinomas (SCCs) at sites of predilec7on for infec7on with high- risk HPVs, including the oral cav...
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