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Breast Cancer - Ashkenazi Jew
- How are they, did they have any problems finding the place?
- Find out what she knows about cancer and testing.
- Review family history
- Review medical history
- What cancer is, how it happens
- Talk about the specific risks to your family
- Talk about the testing options and what it can tell you.
- Talk about management
- Names of relatives
- Daughters' screening practices?
- Any more details about age of living uncles (paternal and maternal)
- Bilateral/unilateral cancers?
- Any idea about country paternal great-grandmother is from?
- Anyone else with cancer?
- Could we get documentation of the sarcoma or brain tumors?
- Any leukemias?
- Any pancreatic, melanoma?
- How is she doing currently?
- What are current screening practices? mammograms, self exams?
- Any surgeries?
- Any hospitalizations?
- Recently diagnosed with cancer/ currently undergoing treatment. How are you dealing with all of this?
- Who do you go to for support?
- Many family members with cancer. How did that impact your idea of risk?
- Have you talked about this appointment with your family?
- Are you concerned for your own health, what are your concerns/fears?
- Have you considered the implications to the rest of your family?
- Have you thought about what if it wasn't familial? How will you feel if testing is not warranted?
Causes of breast cancerEdit
- Basic definition: the uncontrolled growth of cells.
- 70-80% = sporadic (just happens to people for no connected reason -no previous family history)
- 20-30% = familial
- chance alone
- genetic susceptibility
- shared environment
- 5-10% = inherited - this is what we are concerned about and can help you test for
- other genes?
- Genes and chromosomes
- People -> genes -> nucleotides = CAGT
- chromosomes = instruction manual
- genes= instructions
- amnio acids = words
- nucleotides = letters
- Two copies of every chromosome, every gene.
- Dominant Inheritance (50%)
- Cancer is actually caused by a change in a tumor supressor gen*= they control cell growt*When both copies of the gene are changed (have a mutation) they cannot stop cell growth = tumor. (Two-hit hypothesis)
- Two different ways it can be affected
- The genes
- Chromosome 17 (BRCA1)
- Chromosome 13 (BRCA2)
Who do we offer testing for - at greater risk?Edit
- More than one family member with cancer*
- Single woman with breast and ovarian
- Woman with bilateral breast cancer
- Early onset age of cancer (<50)
- Ovarian cancer at any age
- Ashkenazi Jewish*
- Odd cancers - male breast cancer, laryngeal cancer
Based on your family historyEdit
- What do you think you risk of being a carrier is?
Familial chance of riskEdit
- Background risk of BRCA1/BRCA2 mutation carrier for As*Jewish heritage
- 1/40 is a mutation carrier
- Three common mutations
- BRCA1 - 185delAG (1.0%)
- BRCA1 - 5382insC (0.15%)
- BRCA2 - 617delT (1.5%)
- BRCAPRO - 28.0% chance of carrying BRCA1 or BRCA2
- BRCA1 - 9.5%
- BRCA2 - 18.5%
- Couch model
- avg age of dx 50-55 = 12.7% for BRCA1
- Shattuck-Eidens greater than 2 br. c*greater than 51 dx = 13% for BRCA1
- Claus Model (risk for your daughters to develop cancer) - based only on their mother.
- Describe the numbers using the chart with the client* (get this chart!!)
- 0.2% by age 29
- 0.8% by age 39
- 2.3% by age 49
- 4.9% by age 59
- 8.2% by age 69
- 11.0% by age 79 -lifetime risk.
Cancer risks (for carriers of BRCA1/2)Edit
- Three types of risk
- population risk
- age based risk
- lifetime risk
- Risks associated with dev. Breast cancer
- General pop. Lifetime = 11%
- BRCA1/BRCA2 lifetime = 87%
- Jewish carriers - 56% lifetime
- BRCA1/BRCA2 age 40 = 20%
- BRCA1/BRCA2 age 59 = 59%
- BRCA1/BRCA2 age 70 = 82%
- Risk of dev. Second primary breast tumor BRCA1
- age 50 = 48%
- age 70 = 64%
- Risk of second breast cancer with BRCA2
- 50% lifetime risk
- Ovarian cancer risk
- General pop lifetime = 1-2%
- age 50 w/ BRCA1= 29%
- age 70 w/BRCA1 = 44%
- Jew. Pop= 16%
- age 70 w/BRCA2 = 15-20%
- Other cancer risks
- Prostate cancer = 30% (gen. pop = 17%)
- laryngeal cancer, pancreatic cancer = slight increase
- Jewish pop. prostate cancer=16% (depending on mutation - see results session outline)
- Colon cancer slight increase
- Male breast in BRCA2 age 70 = 6% (pop.=0.1%)
- The actual test
- Ashkenazi triplet test (direct mutation analysis)
- BRCA1/BRCA2 sequencing
- after triplet screen = $2380
- Reasons to test
- improved risk management
- answer ? about the cancer risk
- Info for family members
- Lifestyle choices
- Reasons not to test
- psychological distress
- worries of discriminations of employment/insurance
- change in family dynamics
- guilt complex
- survivor guilt
- false sense of security
- Limitations of testing
- The possible results of As*Jew. panel
- positive result
- negative result - may be one of the 17% who do not have the common mutations. Strong indication to do sequencing.
- the possible results of sequencing
- positive, known mutation
- negative result - not informative unless we know a previous mutation
- mutation of unknown significance - it is a mutation but we don't know what it means.
- not all mutations are detected
- results are a probability, not a certainty.
- Two types of testing
- only tests some of the genes
- detects 50% of mutations
- takes 6-12 months
- expensive ($2400 for first relative)
- sequences entire gene
- takes 3-6 weeks (one month)
- Health insurance
- passage of HIPAA (Health insurance portability and accountability act)
- for groups plans
- protects from a change in individual charge based on genetic testing
- genetic testing results can not be viewed as a previously existing condition
- doesn't prevent access to genetic info.
- doesn't prevent insurers from demanding testing as a coverage condition
- doesn't prevent group rate hikes
- doesn't provide protection if you are outside a group plan.
- doesn't cover life or disability issues
- Positive for deleterious mutation
- Negative for mutation
- means that for the areas tested, there is no gene mutation.
- ONLY definitive if thee is a known mutation in the family
- Possibility of other genes that we don't know about.
- Variant of unknown significance
- Breast recommendations for at risk family members
- monthly self breast exam (starting at age 18)
- clinical surveillance - every 6-12 months (starting at age 25)
- annual mammography (age 25-35)
- prophylactic mastectomy
- reduces risk
- Ovarian screening
- Pelvic exam
- Transvaginal ultrasound -every 6-12 months (staring at age 25-35)
- more sensitive than transabdominal ultrasound
- minor discomfort (bladder is empty)
- assess abnormal structural findings
- ovarian volume
- cyst wall thickness
- septal structure
- CA-125 testing - every 6-12 months
- measures a chemical in your blood - glycoprotein antigen - shed in blood stream from ovarian cancer cells.
- level is elevated ½ patients with stage I ovarian cancer
- level is elevated in 90% of patients stage II ovarian cancer
- sensitivity is low
- specificity is low due to other contributing factors
- prophylactic oophorectomy
- eliminates primary ovarian cancer risk (but residual could have cancer)
- induces menopause
- Colon screening
- colonoscopy every 3-5 years starting age 50
- annual fecal occult tests
The information in this outline was last updated in 2000.
Material obtained under GFDL Licence from http://en.wikibooks.org/wiki/Handbook_of_Genetic_Counseling