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1
BREAST CANCER: Tick list for BRCA1/2 Test
Who should be tested for the BRCA1/2 genes?
□ A BRCA genetic test is indicated when a diagnosis of breast cancer has been made as follows 
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Families with 4 close relatives younger than 60 years
Families with 3 close relatives younger than 50 years
Families with 2 close relatives younger than 60 years and ovarian cancer in the family
Bilateral breast cancer and/or ovarian cancer diagnosed before the age of 30 years
Male breast cancer and any family history of breast and other cancers, including prostate cancer
Triple-negative breast cancer (ER, PR, Her2/neu negative)
□ In addition to a family history, ethnic risk is an important consideration –
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Founder gene effects have been described in some populations (e.g. Ashkenazi Jewish, Afrikaner)
What benefit does the BRCA test have?
□ The whole family could benefit if a patient with breast cancer in the family is/has first been tested 
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It will determine whether a gene defect (mutation) is present in the BRCA1 or BRCA2 gene
If identified (or previously known), the same mutation can then be screened for in close relatives
Use of such a mutation-specific BRCA test will exclude or confirm the familial risk in at-risk relatives
Knowing the risk of the patient to 1) inherit a BRCA mutation and 2) develop cancer for the first or second
time due to inheritance of a BRCA mutation will inform the best strategy for risk reduction.
□ Value of the test in a healthy family member 
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A positive test would indicate a very high risk for cancer that requires early intervention
A negative test for the family mutation means the risk would be similar to that in the general population
□ Value of the test in a patient already diagnosed with cancer 
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A positive test indicates a high risk for recurrent cancer or bilateral breast cancer
A negative test for the family mutation means the cancer was caused by other risk factors not tested for
Can an at-risk individual’s children inherit the BRCA gene mutation?
□ Yes, but only if the test detected a causative BRCA mutation in your DNA (positive test) 
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There is a 50% chance with each pregnancy to pass on the faulty gene
No further risk implications for children when the test for the causative family mutation is negative
When is the most appropriate time to have a BRCA test?
□ A BRCA genetic test is generally performed only in individuals above the age of 18 years 
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It may be best to first have children before a decision on prophylactic surgery needs to be made
Women who need to have a hysterectomy may prefer to know their risk before this operation
Women who consider breast surgery may use the information to decide about a bilateral mastectomy
What are the BRCA test options and sample requirements?
□ DNA extracted from a blood sample (purple top tube), finger prick or saliva/cheek swab can be used 
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Mutation-specific: To screen at-risk family members for a known mutation previously identified in the index
patient diagnosed with breast/ovarian cancer.
Population-specific: To screen for a limited number of mutations occurring at an increased frequency in
certain ethnic groups (e.g. Ashkenazi Jews, Afrikaners of European descent).
Full gene screen: To identify the cancer-causing mutation in affected or high-risk patients who tested
negative during the initial screen for family/population-specific mutations or when these two test options
are not indicated.
Patient name....................................................
GENETIC COUNSELLING REQUIRED (~R 500)
Referring doctor..............................................
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Date of birth............................................
□ YES
□ NO
Date: ......................................................
2
QUESTIONNAIRE TO DETERMINE THE APPROPRIATE TEST OPTION:
1) Family-specific BRCA mutation test
2) Population-specific BRCA mutation test
3) Full gene BRCA1/2 screen
Patient name....................................................
Date of birth............................................
E-mail……………...............................................
Tel number ............................................
Breast / Ovarian
Cancer
NO
YES
Age at
diagnosis
Family history: Please provide details below on
relationship, age of cancer diagnosis and
presence of male breast cancer in the family
Patient (self)
Bilateral breast
cancer
Recurrent cancers
Treatment failure
or side effects
Relative(s)
Ovarian or other
cancer in family?
Any member of family already tested for BRCA1 or BRCA2 mutations?
□NO
Ancestry
□ YES
BRCA1……………..
Patient
Ashkenazi Jewish
Black, African
Coloured, Mixed ancestry
White, Afrikaans-speaking
White, English-speaking
White, Eastern European
Other, please specify
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BRCA2………………
Father’s side of
family
Mother’s side of
family