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40 Cards in this Set

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Which chromosome do find the BRCA-1 gene?
Chr 17
Which chromosome do find the BRCA-2 gene?
Chr 13
What 4 factors can affect penetrance of BRCA genes?
1. Modifier genes… 2. Environment (carcinogens)… 3. Response to DNA damage (p53, p21, etc.)… 4) Hormonal reproductive factors
H-E-R-M
T/F: BRCA genes are dominant with incomplete penetrance.
TRUE
What are the 6 mechanism that lead to loss of heterozygosity?
1. Chromosome loss… 2. Deletion… 3. Unbalanced translocation… 4. Loss and reduplication… 5. Mitotic recombination… 6. Point mutations
PRsDRULe
What do FAP (APC) , HNPCC (MSH2/6, MLH1), and Breast cancer caused by BRCA genes have in common?
They are all TS genes, thus they are all dominant with reduced penetrance.
What is the biggest risk factor for breast cancer?
BRCA gene mutations
What is the general population risk for breast cancer at ages 40, 50 and 70?
40=0.5%… 50=2.0%… 70=7%
For carriers of the BRCA gene mutations, what is the risk for breast cancer at ages 40, 50 and 70?
40=10-20%… 50=33-50%… 70=56-87%
What is the general public risk for ovarian cancer at 70 years old?
1%
What is the risk for ovarian cancer for BRCA1 and BRCA2 mutations?
BRCA1=44%… BRCA2=27%
What percentage of breast and ovarian cancer is BRCA related? What percentage of inherited breast cancers are BRCA1 and what percentage I BRCA2 cancers
1. Total inherited = 7-10%… 2. BRCA1=52%, BRCA2=32%
What role do BRCA tumor suppressors play the cell?
the proteins produced play a role in genomic integrity
How many different mutation of BRCA1 and BRCA2 are there?
BRCA1=500… BRCA2=300
What are the 3 major mechanisms of mutation (increasing order) are seen in BRCA1?
nonsense > splice site > missense
MSN... no, NSM
What are the 2 major mechanisms of mutation (increasing order) are seen in BRCA2?
Nonsense > missense
MN
What other risk factors are seen in BRCA1 gene mutations?
Male breast cancer and Prostate cancer
What other risk factors are seen in BRCA2 gene mutations?
Male breast cancer, prostate cancer, and pancreatic cancer
Do BRCA gene mutations play a role in colon cancer?
little or no increased risk of colon cancer
What are the most significant prognosticators of breast and ovarian cancer?
Age of onset of cancer (<50), >ovarian cancer at any age > and two or more women with breast cancer from the same side of the family.
What are family history events of breast and ovarian cancer that suggest sporadic cancer?
1. No breast cancer is diagnosed before the age of 60… 2. No ovarian cancer… 3. No clear pattern on one side of the family or other.
Which are the 6 signs of that suggest hereditary cancer syndrome?
Early onset of diagnosis… 2. Cancer in two close relative on the same side of the family… 3. Multiple primary tumors… 4. Bilateral or multiple rare cancers… 5. Constellation of tumors consistent with specific cancer syndrome (eg., breast and ovarian together)… 6. evidence of autosomal dominant transmission
Two Dom Early 4 Multiple Bilateral-rare Constellations
How many mutations of the BRCA genes are seen in Ashkenazi Jew Populations?
3
What is the estimated rate of BRCA mutation in the AJ population?
1/40 or 2.5 %
Do Ashkenazi Jews have an increased risk of cancer?
no
None
What percentage of Ashkenazi Jewish women with breast cancer have a BRCA mutation? How does this compare to the general population?
10% compared to 3-4%
What are the 4 guidelines for cancer predispostion testing?
1. The individual has features/history suggestive of genetic susceptibility condition… 2. The test can be adequately interpreted… 3. The test results will influence medical management… 4. Test should only be given in the setting of pre and post test counseling
What is the Testing methodology for BRCA in the general population? In the Ashkenazi Jew Population?
1. Gene sequence… 2. Test for the three genes (which account for 90% of the mutations)
What do you do if a family member without breast cancer tests negative for BRCA genes, but the proband tested positive for BRCA?
General population surveillance for sporadic cancer
None
What do you do if a family member without breast cancer tests negative for BRCA genes, but the proband tested negative for BRCA?
Emphasize risk of unidentified familial mutation … provide individualized risk-management plan
None
What 5 things would you recommend for a person that tests positive for BRCA genes?
1. Test other family members… 2. Increased frequency of surveillance… 3. Lifestyle change… 4. Chemoprevention… 5. Prophylactic surgery
None
What three things are recommend for a patient that test positive for a BRCA gene of uncertain significance?
1. Explain risk is not yet known… 2. Provide other breast cancer risk estimates… possibly test other family members 3. Individual risk management… keep current with clinical research.
None
What are the 4 American Breast Cancer guidelines for (BRCA postive) breast cancer screening?
1. Initiate mammography screening at 30 or rarely at youner ages… 2. Shorter mammography intervals… 3. Additional MRI screening (false positives)… 4. Addition of ultrasound screening (for dense breasts)
additional tests
What are 3 screening tools used in ovarian cancer surveillance?
1. CA-125 marker… 2. Pelvic exams… 3. Transvaginal ultrasound
What drug is used as a chemoprevention drug for breast cancer?… Which BRCA is this more effective, why?
Tamoxifen… BRCA2, which expresses more estrogen receptors
What drug is used as a chemoprevention drug for ovarian cancer?… What is reduction of risk? What time usage is required for this treatment to be effective?
1. Oral contraceptives… 2. 60% reduction… 3. Must have been used for at least 6 years
What is the reduction of ovarian cancer risk after oophorectomy in BRCA mutations? Does an oophorectomy have an effect on breast cancer risk?
Oophorectomy reduces the risk of ovarian cancer by ~95% and reduces the risk of breast cancer by ~50%
What type of cancer is still a risk factor even after an oophorectomy in BRCA mutations?
Peritoneal carcinomatosis
None
What is the rate of breast cancer in women who had a bilateral prophylactic mastectomy compared to those that did not?
2% compare to ~50
What is reduced risk of breast cancer in women that have both mastectomy and oophorectomy compared to those that only had a mastectomy?
95% reduction compared to 90% reduction
None