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63 Cards in this Set
- Front
- Back
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What is the most common type of breast cancer?
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Ductal Carcinoma
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What are the most common sites of distant metastasis in breast cancer?
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Bone
Brain lung liver |
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Which has been more associated with genetic changes?
-ductal carcinoma in-situ (DCIS) -Lobular carcinoma in-situ (LCIS) |
DCIS
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Which type of disorder is more often thought of as a precancerous lesion - debate about if it is a real cancer?
-ductal carcinoma in-situ (DCIS) -Lobular carcinoma in-situ (LCIS) |
LCIS
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Which kind of breast cancer is more aggressive and more invasive?
-Adenocarcinoma (either ductal or lobular) -ductal carcinoma in-situ (DCIS) -Lobular carcinoma in-situ (LCIS) |
Adenocarcinoma
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If a woman has *one or more close relatives with early-onset breast cancer *multiple relatives with older-onset breast cancer, or *a family hx of breast cancer suggestive of a hereditary cause but negative test results. Would we call this :
-hereditary -Family Cluster -Sporadic |
Family cluster
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Name the % of lifetime risk for each of the populations for breast cancer
-general population -family cluster -HBOC |
general population = 12%
Family cluster = 20-30% HBOC = 50-85% |
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What are some known risk factors for breast cancer (relative risk follows)
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age at first live birth (increase over 25)
age at menarche (increases under 12) PCP ??? # of breast biopsy Breast density Radiation Exposure Obesity Alcohol Physical activity |
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Which model for assessing breast cancer risk takes family history into account
-Gail Claus |
Claus
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If a woman has more than 2 relatives with breast cancer which model would be more helpful?
-Claus -BRCAPRO |
BRCAPRO
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The BRCAPRO bundled as part of CancerGene sotware uses Bayesian Analysis. What does this mean?
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It takes into account the # of 1st/ 2nd degree relatives with breast cancer as well as those without breast cancer.
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At what level of lifetime risk (%) would you recommend breast MRI for screening?
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over 20%
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At what level of lifetime risk would you recommend tamoxifen?
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1.7%
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Why do we avoid screening prior to age 25?
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Younger women have greater breast density.
Breast tissue is still developing (increased radiation exposure risk) |
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If a young woman needs screening (<25) what kind of immaging would you consider?
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MRI
Ultrasound |
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What age do we start breast screenings in women with a family history of breast cancer (in absence of known mutation in a high risk gene)
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About 10 years earlier than the age of earliest diagnosis.
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Which ethnic population has a high prevalence of BRCA 1 BRCA2 mutations?
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Ashkenazi Jewish
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What kind of inheritance does BRCA1 & 2 have?
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autosomal dominant
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What factors make you think about HBOC
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-multiple cases of premenopausal breast cancer
-ovarian cancer -bilateral breast cancer -breast + ovarian in same woman -male breast CA -Ashkenazi Jewish |
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What other types of cancers are seen at an increased rate for carriers of BRCA1/2?
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-prostate
-pancreas -melanoma -stomach |
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Which is more likely to be ER +?
-BRCA 1 -BRCA2 |
BRCA2
BRCA1 = 75% ER NEG BRCA2 = 75% ER POS Therefore we don't think tamoxifen would be as beneficial in women with BRCA1 |
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Which mutation has earlier age of onset?
-BRCA 1 -BRCA2 |
BRCA 1
BRCA 1 = 30's 40's BRCA 2 = 40's 50's |
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What factor increases the risk of contralateral breast cancer in both BRCA1 and BRCA2
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Age of first breast ca dx
Youger age = greater risk for a completely new breast ca |
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Which has the greater risk for ovarian cancer?
-BRCA 1 -BRCA2 |
BRCA1
BRCA1 = 40-60% lifetime risk BRCA2 = 20-30% lifetime risk |
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Why is BRCA1 just bad all the way around?
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more likely ER negative
earlier age of onset greater risk for new breast cancer greater risk for ovarian |
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Compared to BRCA 1, what are the bad things about BRCA 2?
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-more male breast cancer
-more prostate ca -more pancreatic ca -melanomas (not seen with BRCA1) |
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By the time ovarian cancer is found what percent have metastasized?
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62%
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What is the 5 year survival for metastatic ovarian cancer
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27%
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Why is ovarian cancer so bad?
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no good screening methods for early detection
highly aggressive and fast moving unreliable symptoms advanced disease by time of usual diagnosis |
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What breast screening do you do in HBOC
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BSE starting at age 18
Starting at age 25 clinicalbreast exams every 6 months Annual Mammo AND MRI 6 mo apart) if BRCA 2 consider tamoxifen |
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what age do you consider prophylactic oophorectomy in HBOC?
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35-40 (when done with family)
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What screening tests for HBOC for ovaries
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CA-125 and transvaginal US q 6 months sstarting at age 35
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Are women more likely to live longer if they have prophylactic mastectomy in HBOC
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no
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What is a side effect of screening every 6 months
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stress
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Is a woman's mortality affected by her choice to have an oophorectomy
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YES
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In HBOC how much is risk reduced for breast cancer when an oophorectomy is done (alone - no mastectomy) before ages 45-50?
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About 50%
Although BRCA 2 carriers benefit more |
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If a woman takes oral contraceptive pills for at least 5 years how much is her risk for ovarian cancer reduced?
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Half
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Is oophorectomy still recommended if a woman takes OCP with HBOC
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Yes
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What are PARP inhibitors for?
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they are for BRCA - they "fix" the mutations
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How is TP53 transmitted
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autosomal dominant
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When do TP53 breast cancers occur
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strikingly young
20's or younger |
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If anyone develops breast cancer under age 20 what would be the FIRST genetic test you run?
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TP53
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How is cowden syndrome inherited
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autosomal dominant
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What is the gene associated with cowden syndrome
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PTEN
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If you saw adult onset ataxya, what kind of brain tumor would you suspect in a person with cowdens
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Lhermitte-Duclos
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What kind of genetic disorder do you expect with little flesh colored skin bumps (Trichillemosa)
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Cowden Syndrome
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What do you see in the GI tract of a cowden syndrome patient?
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Hamartomas (typically juvenille polyps and ganglioneuromas)
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What are the three strong physical markers for cowden
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Lhermitte-Duclos
mucotaneous lesions GI tract hamartomas (juvenile polyps) |
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What genetic syndrome can be associated with a big head?
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Cowden
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What other cancer risks do you see in cowden syndrome?
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thyroid
endometrial urinary tract colon |
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What prophylactic surgeries do you consider with cowden?
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bilateral mastectomy
hysterectomy |
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What thyroid screening do you consider in cowden?
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Baseline US at age 18 and annual thereafter
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What genetic disorder is associated with STK11
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Peutz-Jeghers syndrome
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How is Peutz-Jeghers syndrome transmitted
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autosomal dominant
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what is the lifetime risk for breast cancer with Peutz-Jeghers?
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45-50%
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What genetic syndrome is associated with darkly pigmented spots on the lips
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Peutz-Jeghers Syndrome
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Hereditary diffuse gastric cancer is associated with a high risk for gastric cancer. What is the risk for breast cancer
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about 39%
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What gene is involved with hereditary diffuse gastric cancer?
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CDH1 (e-cadhedrin)
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If there are two cases of gastric cancer in the family and at least one is diffuse and occurs younger than 50 years of age what would you test for?
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CDH1 - hereditary diffuse gastric cander
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If a single idvidual was diagnosed with diffuse gastric cancer and lobular breast cancer what would you test for?
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CDH1 - hereditary diffuse gastric cancer
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What surgery is recommended with hereditary diffuse gastric cancer?
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Total gastrectomy considered at age 20
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What screening is recommended for CDH1 carriers
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Endoscopic surveillance starting age 16 every 6 months
breast cancer screening starting age 35 |
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What can you say about:
CHEK2 ATM PALB2 BRIP1 |
These are all genes that confer a mild to moderate increase in risk for breast cancer (about 20% lifetime). In families with several breast cancers you don't just find one of these mutations. We don't have good algorithims for these.
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