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11 Cards in this Set
- Front
- Back
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MC diagnosed CA (excluding skin) in American women?
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Breast
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Common mutations and associated Syndromes....
a. BRCA1 and BRCA2 b. p53 c. PTEN d. MSH6, MSH2, MLS1, PMS2 |
a. hereditary breast cancer (BRCA2 see in male breast cancer)
b. Li-Fraumeni (increased rx for multiple cancers) c. Cowden syndrome- d. HNPCC |
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MC rx factor for breast CA?
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increased age
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Type of gene that is BRCA1 and BRCA 2?
Chromosome of each BRCA2 increases rx for which other cancer? |
tumor suppresors
BRCA1- ch17 BRCA2- ch13- increased rx for male breast cancer and prostate, laryngeal, and pancreatic... also usually older population |
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If BRCA1 and BRCA2 are susceptible with 1 or more of what conditions?
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1. hx- early onset BC (<50y/o), early onset BC and Ovarian cancer, bilateral BC
2. FHx of breast or ovarian consistent with AD inheritance 3. Male breast cancer |
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Whats all about the "founder effect" and breast cancer?
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3 mutations were found to be associated with 90% of breast cancers in Ashkenazic Jews
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Cowden syndrome is?
Increased rx for which tumors? Chracteristics? Mutation causes what? |
Multiple hamartoma syndrome with high risk of benign and malignant tumors of the breast, thyroid and endometrium
characteristics- MAcrocephaly, Trichilemmomas, Papillomatous papules by late 20's PAPILLOMAS IN LIPS AND MUCOUS MEMBRANES - d/t PTEN on ch. 10- doesnt allow normal cell growth because PTEN dephosphorylates PIP3 to PIP2 |
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TWO MC bancers seen with Cowden syndrome?
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Breast and Follicular thyroid..
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Lynch syndrome is?
Two types? d/t? |
Seen with HNPCC
1. R- sided predominance, multiple primary tumors 2. lynch 1 plus extracolonic CA... particularly endometrial D/t microsatellite instability |
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What is the importance of the BAX gene and what cancers does it deal with?
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BAX- last resort after p21/GADD45 stops working... depending on the BAX/BCL2 ratio cells will die or live
- In mutation of BAX seen in HNPCC cells will survice d/t dimeric effect |
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What are normal repeated amino acid in TGFBR2 gene?
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A10 repeat
- mutation in HNPCC d/t microsatellite instability causes disruption in the function of TGF-B |
