Oncology 401 Lecture 14 2013

Fanconi anemia fa a rare autosomal recessive disease

Info iconThis preview shows page 1. Sign up to view the full content.

View Full Document Right Arrow Icon
This is the end of the preview. Sign up to access the rest of the document.

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...
View Full Document

{[ snackBarMessage ]}

Ask a homework question - tutors are online