Breast Cancer Genetic Risk Communicating with Your Family Mary B. Daly, M.D., Ph.D. April 3, 2012.
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Transcript of Breast Cancer Genetic Risk Communicating with Your Family Mary B. Daly, M.D., Ph.D. April 3, 2012.
Breast Cancer Genetic Risk
Communicating with
Your Family
Mary B. Daly, M.D., Ph.D.
April 3, 2012
Issues to ConsiderIssues to Consider
Who to tellWho to tell When to tellWhen to tell What to tellWhat to tell How to deal with reactionsHow to deal with reactions How to deal with family dynamicsHow to deal with family dynamics ConfidentialityConfidentiality
Communication
Genetic Mutations and DiseaseGenetic Mutations and Disease
All of us have 4 or 5 genetic changes that All of us have 4 or 5 genetic changes that may lead to diseasemay lead to disease
Genes come in pairs. One working gene Genes come in pairs. One working gene is good enoughis good enough
Over a lifetime genetic changes can knock Over a lifetime genetic changes can knock out the working gene (Most disease out the working gene (Most disease occurs as we age)occurs as we age)
5-10% are born with a gene mutation that 5-10% are born with a gene mutation that will cause illness at an earlier agewill cause illness at an earlier age
Characteristics of Hereditary Characteristics of Hereditary Breast CancerBreast Cancer
Young age at onsetYoung age at onset
Aggressive phenotypeAggressive phenotype
Triple negative profile (ER, PR, Her2/neu)Triple negative profile (ER, PR, Her2/neu)
Increased rate of interval cancersIncreased rate of interval cancers
Association with ovarian, other cancers Association with ovarian, other cancers in the familyin the family
Family Patterns Identify Risk Family Patterns Identify Risk for Diseasefor Disease
Same or similar type of disease from one Same or similar type of disease from one generation to the nextgeneration to the next
More than one family member with the More than one family member with the same type of diseasesame type of disease
Disease happens at an earlier age than Disease happens at an earlier age than expectedexpected
Precursor conditions (polyps, Precursor conditions (polyps, cholesterol, sugar)cholesterol, sugar)
RecordsRecords– MilitaryMilitary– SchoolsSchools– Death CertificatesDeath Certificates– Medical recordsMedical records
Genealogy recordsGenealogy records
Where You Can Get Information Where You Can Get Information About Your Family’s Medical HistoryAbout Your Family’s Medical History
Drawing a Family Tree for Drawing a Family Tree for Your Family Health Story Your Family Health Story
women
men
married
child
Sisters & Brother
Shaded = disease
Line through - Passed/died
You
MotherFather
Mother’sMother
Mother’sFather
Father’sMother
Father’sFather
You
MotherFather
Mother’sMother
Mother’sFather
Father’sMother
Father’sFather
AuntAunt
Uncle Uncle
Mother’sMother
Mother’sFather
Father’sMother
Father’sFather
MotherFatherAunt
AuntUncle Uncle
YouHusband Husband
children
BRCA1 Pedigree
BREAST, 62
OVARY, 49
BREAST, 30
OVARY, 32
BILATERALBREAST, 40
BREAST, 47
PROSTATE, 52
BREAST, 44
OVARY, 52
Personal Risk
for
Disease
Genetic Factors
Lifestyle BiologicAging
Environmental Factors
Why is Our Family Story Such Why is Our Family Story Such a Powerful Tool?a Powerful Tool?
Identify disease that may run in the Identify disease that may run in the family family
(high-risk)(high-risk) Help guard our healthHelp guard our health Something to tell your doctorSomething to tell your doctor
Familial Dynamics Effect
Family organization
Family beliefs
Family communication process
Patterns of coping
Life cycle challenges
Some General Barriers to Some General Barriers to Information ExchangeInformation Exchange
Lack of perceived usefulnessLack of perceived usefulness
Serious nature of the messageSerious nature of the message
Difficult or distant family relationshipsDifficult or distant family relationships
Reluctance to share upsetting or Reluctance to share upsetting or alarming informationalarming information
Fear of rejectionFear of rejection
Why are Men Underrepresented in Why are Men Underrepresented in Conversations about Conversations about BRCA1/2BRCA1/2??
1.1. Predominant cancers are femalePredominant cancers are female Confusion about inheritance of female Confusion about inheritance of female
cancers through paternal side of the familycancers through paternal side of the family Lack of awareness of male breast cancerLack of awareness of male breast cancer Lack of awareness of other cancers in the Lack of awareness of other cancers in the
syndromesyndrome Fewer management strategies available Fewer management strategies available
2.2. Gender Differences in Health RolesGender Differences in Health Roles Women usually the caregivers in the Women usually the caregivers in the
family and are often responsible for the family and are often responsible for the communication of health informationcommunication of health information
Women more likely to experience Women more likely to experience vulnerability to health threatsvulnerability to health threats
Men more likely to minimize health Men more likely to minimize health threats, perceive illness as a weakness, threats, perceive illness as a weakness, or use avoidance techniquesor use avoidance techniques
Why are Men Underrepresented in Why are Men Underrepresented in Conversations about Conversations about BRCA1/2BRCA1/2??