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BRCA1 and BRCA2 Cancer genetic counseling

BRCA1 and BRCA2 Cancer genetic counseling. Vigdis Stefansdottir, genetic counsellor at Landspitali Brjostaheill 17.09.2016. Genetic counselling at Landspitali - National University Hospital. Cancer GC at the end of 2006 Oncologist - Oskar T. Johannsson Steadily increasing

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BRCA1 and BRCA2 Cancer genetic counseling

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  1. BRCA1 and BRCA2 Cancer genetic counseling Vigdis Stefansdottir, genetic counsellor at Landspitali Brjostaheill 17.09.2016

  2. Genetic counselling at Landspitali - National University Hospital

  3. Cancer GC at the end of 2006 Oncologist - Oskar T. Johannsson Steadily increasing Most because of HBOC 2400 have been to CGC The Angelina Jolie effect Two founder variations Cancer genetic counseling in Iceland

  4. Two founder variation known as the c.771_775del5 (999del5) in BRCA2 and the 5193G>A in BRCA1 The BRCA2 variation is found in 0.6-0.8% of the population (appr. 2400 individuals of all age and both genders) The BRCA1 variation has unknown prevalence - to date 5 families Other variations in BRCA gene Variable cancer history BRCA1 and BRCA2 in Iceland

  5. Reason for referral/testing • A known BRCA1/2 gene mutation (or other inherited gene mutation linked to breast cancer) in the family • A personal history of breast cancer younger than 50 years of age • A personal history or of breast cancer any age and a family member (parent, sibling, child, grandparent, grandchild, uncle, aunt, nephew, niece or first cousin) diagnosed with breast cancer at age 50 or younger • A personal history of breast cancer and Ashkenazi Jewish heritage • (appr. 3% of the population has a BRCA1 variation • A personal history of triple negative breast cancer (breast cancer that is estrogen receptor-negative, progesterone receptor-negative and HER2-negative) diagnosed at age 60 or younger  • A personal or family history of ovarian cancer • A personal or family history of male breast cancer • A personal of family history of pancreatic cancer <60  • Any combination of the above

  6. Comprehensive genealogy database Information many generations back Nation wide Cancer Registry All cancers since 1954 Breast cancer since 1911 Databases • Mandatory to record • Accurate information • Pedigrees our work • Bio samples - far back • Risk assessment

  7. Genetic counseling is… “A communication process which deals with human problems associated with the occurrence, or the risk of occurrence, of a genetic disorder in a family” American Society of Human Genetics 1975

  8. Families and people are different

  9. Counsellee information: Reason for coming Family health history Family size Family members Thoughts Worries Counsellor information: DiseaseInheritanceRisk assessmentSurveillance programSupportDecision making - non-directive

  10. Increased knowledge Less anxiety because of the unknown Certification Surveillance Preventive measures Two sides of testing • Fear, anxiety • Do I have the gene? • Disagreement within the family • Changed self-image • I am different, I am a mutant! • What about insurance? • Why me?

  11. Waiting for the outcome

  12. Afraid of the unknown • Having a BRCA variation is a scary thing • What does it mean? • Will I get cancer? • When will I get cancer? • What about my children? • Will I have children? • Am I going to die? • and and and and and and….

  13. Survival guilt I felt bad because my sister got a positive result. I felt guilty because in my opinion I was the stronger one and should have been the one to have a positive results instead of her”.

  14. Life is never straight!

  15. Online communities

  16. What to do with the informaton? • The new norm • What is the right thing to do? • What about other cancers? • Pancreas • Prostate • Ovarian • Others • Different reality

  17. Thank you for listening and remember that… …we are all different, all alike and all equal!

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