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Germline Mutations In Chek1 And Chek2 In Women With Ovarian, Peritoneal, Or Fallopian Tube Cancer, Maria Isabel Harrell

Walden Dissertations and Doctoral Studies

Ovarian cancer is the deadliest gynecological malignancy affecting women. Diagnosis often occurs late due to non-specific symptoms, but if detected early, there is excellent chance for survival. One of the most important risk factors is family history. Up to 24% of cases are due to inherited loss-of-function mutations in genes involved in the DNA damage response. The theory underlying hereditary cancers is Knudson's two-hit theory of cancer causation, where two hits are necessary for cancer to occur in an individual: one in the germline and one in the tissue. The genes, CHEK1 and CHEK2, are modulators of the DNA damage …