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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 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 – 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 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 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 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) 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 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 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.............................................. Copyright© Gknowmix (Pty) Ltd. All rights Reserved. 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 Copyright© Gknowmix (Pty) Ltd. All rights Reserved. BRCA2……………… Father’s side of family Mother’s side of family