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Genetics and Breast Cancer Adelphi 2018 Educational Forum Sharona Cohen, MS, CGC Certified Genetic Counselor Northwell Health Cancer Institute May 22, 2018
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Normal Female Karyotype
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What is a gene?
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WHAT IS A MUTATION/GENETIC VARIANT?
A mutation is ANY change in the ‘normal’ DNA sequence Month Day, Year
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What is Cancer? Cancer is a Genetic Disease!
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Cancer: Hereditary vs. Non-Hereditary
Inherited Cancers Mutation inherited from a parent Mutation found in every body cell, including eggs or sperm Carried by males & females Mutation may be carried by other relatives Can cause cancer syndrome ~10% of cancers Non-Inherited Cancers Mutation develop in non- germline tissues Mutations are non-heritable Acquired during an individual’s life time Mutations are found in tumor only ~90% of cancers
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Signs of Hereditary Breast Cancer
If your patient or their family members have any of these signs of hereditary breast cancer, you should consider genetic testing.
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Cancer Diagnosed at a Young Age
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Cancer Genetics: A New Era
Supreme Court’s Decision Next-Generation Sequencing Technology Human Genome Project 2003 Month Day, Year
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Signs of Hereditary Breast Cancer
If your patient or their family members have any of these signs of hereditary breast cancer, you should consider genetic testing. Uninformative Testing before 2013!
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Cancer Genetics & Precision Medicine
Right Person Right Time Right Care 1o Cancer Prevention; Early Detection Prevention & Early Detection of 20 cancer Inform Relatives
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Multiple Genes Implicated in Breast Cancer
TP53 PTEN STK11 PALB2 MRE11 ATM BARD1 CHEK2 RAD51C NBN RAD50 CDH1 BRCA1 BRCA2
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Hereditary Breast Cancer – Risk Differences
1/400 BRCA1/2 mutation 1/40 AJ
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What is Genetic Testing?
Use blood, saliva (oral rinse), or skin to obtain DNA Analyze for variations (or mutations) in genes associated with increased risk for cancer Multi-gene panel using next-generation sequencing is the current standard Results available in ~2-3 weeks (may be expedited) Insurance pre-verification may be available Genetic counseling is an important component of testing process
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Genetic Counseling…It’s a Process
Identify Pretest Counseling Testing Posttest Counseling
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Ovarian Cancer Risk by Age 70
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Testing may invoke feelings of…
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Possible Test Results…Negative
No mutations that increase the risk for cancer detected in the genes tested Does NOT mean the cancer is not hereditary Medical management based on personal and family’s cancers and ages at diagnosis ]
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Possible Test Results…Positive
Disease-causing mutation identified in one (or more) of the genes tested Increases the risk for cancer or cancers Guide management in order to screen/prevent cancer Each first-degree relative has 50% chance to carry mutation Recommend testing at-risk relatives
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Possible Test Results…Inconclusive
“Variant of Uncertain Significance” Unclear at this time whether it’s a benign variation or disease-causing. Example: eye color Most are reclassified as “benign” Do not test relatives for uncertain variants Management based on personal and family’s cancers & ages at diagnosis. NOT on variant!
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Genetic Testing…Not just a blood test!
Benefits Risks/Limitations Clarify Risk for Relatives Empowerment Personalized Risk Assessment Cancer Prevention/Early Detection Inconclusive Results Invoke Feelings of guilt, anxiety, etc. Insurance Concerns Month ay, Year
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Genetic Counseling is NOT Genetic Testing!
Remember… Genetic Counseling is NOT Genetic Testing!
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A mutation may be inherited from
Remember… Learn about your maternal & paternal cancer history! A mutation may be inherited from a father or a mother and may be passed on to sons & daughters
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Remember… Small family size or families with few female relatives may “mask” underlying mutation in a breast cancer gene
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Remember… Testing positive for a mutation DOES NOT mean you have cancer or will develop cancer in the future!
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Remember… Testing negative for a mutation DOES NOT mean you will not develop cancer
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New Paradigm: Shift from Reaction to Prevention
Cancer Diagnosis Oncologist/Surgeon Genetics Cancer Prevention
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Thank You! Month Day, Year
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Questions?
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