Pathophysiology | Screening | Risk Reduction Options |
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Tumor supressors
The BRCA genes encodes for these type of proteins?
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What is 1 in 300, to 1 in 800
Represents the incidence of BRCA 1 and 2 mutations in the general population
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What is Bilateral BSO
Prophylactic risk reducing option for ovarian cancer, and should be offered to individuals with BRCA mutations by age 40 or following desire for future fertility
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Two Hit Hypothesis
This hypothesis describes the development of cancer in individuals with known mutation
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What is 39-46%, and 12-20%
Represents the risk of ovarian cancer in individuals with known BRCA 1 and 2 mutations respectively
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What is tamoxifen
This chemopreventive therapy has been found to be useful in reducing risks of breast cancer in patients with BRCA 2 mutaions
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Serous or Endometriod type, High Grade
This histologic type of ovarian cancer has been most strongly associated with BRCA mutations
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What is
-Women with personal history of breast or ovarian cancer -Women with ovarian cancer and a close relative with ovarian cancer, or premenopausal breast cancer -Women with ovarian cancer who are of Ashkenazi jewish ancestry -Women with breast cancer
The following risk factors warrant genetic screening for BRCA mutations
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What is surveillance, chemoprevention, risk reducing surgery
The three different options pts should be offered when diagnosed with known BRCA mutation
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What is periodic CA 125, TVUS at age 30-35, or 5-10yrs before incident case and semiannual clinical breast exam, along with annual mammography or breast MRI at age 25 or earlier based on family history
Represent the recommended screening modalities for individuals with BRCA mutations
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