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??