Family Genetics - Having the Conversation with Family

Welcome to Fight Colorectal Cancer’s Webinar Session:Family Genetics

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Today’s Webinar:1. Today’s Speaker: Lisa Ku, MS CGC & Lisen Axell, MS, CGC

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SpeakersLisa Ku, MS CGC is a board certified Genetic Counselor at the University of Colorado.

Lisen Axell, MS CGC is a board certified Genetic Counselor at the University of Colorado.

Genetics and

Family History

October is National Family History Month

Common Diseases

• Cancer• Heart disease

• Diabetes• Hypertension

• Stroke• Alzheimer's

• Arthritis• Osteoporosis

Common Risk Factors for Disease

• Age• Family history

• Ethnicity• Lifestyle

• Diet• Alcohol• Smoking

Cancer Risk

Family History

GenesEnvironment

Lifestyle

Family history information is key

Cancer Risk Based on Family History

Sporadic70%

Familial25%

Hereditary5%

Karl’s Story

• Karl is 62 and was just diagnosed with colon cancer

• His doctors ask if he has any family history of colon cancer

• Karl does not think there is any history, but he doesn’t know much about his family history

“Sporadic” Cancer

Sporadic70%

Familial25%

Hereditary5%

“Sporadic” Cancer

• Onset later in life• No clear pattern on one side of family• No inherited gene mutation• Family members have a small if any increase in

cancer risk

Dx 62

Family History

General population screeningrecommendations

SporadicRisk: Average

Classification: Who Needs What?

Karl’s Story

• Karl’s father’s death certificate shows he actually had colon cancer at time of death (age 80)

• Following Karl’s diagnosis his sister has a colonoscopy and 3 polyps are found

“Familial” Cancer

Sporadic70%

Familial25%

Hereditary5%

“Familial” Cancer

• Clustering of cancer but no clear pattern• Typically later in life• May be due to:

– inherited unknown genes (less penetrant) – environment – combination of the two

3 colonic polyps

Dx 80

Dx 62

Family History

Personalized screening recommendations

General population screeningrecommendations

SporadicRisk: Average

FamilialRisk: Moderate

Classification: Who Needs What?

How does this information change risk assessment?

• NCCN guidelines for 2 first-degree relatives with colon cancer = colonoscopy every 3-5 years starting at age 40

•Affects medical management for all of Karl’s siblings (now father and brother with colon cancer)

Why does knowing about the type and number of polyps make a difference?

• Adenomas = precancerous

(FAP, Lynch)

• Hyperplastic, hamartomatous, juvenile (rare cancer syndromes)

• Greater than 10 polyps

(polyposis syndromes)

Karl’s Story

• Karl learns that his maternal grandmother had some kind of gynecologic cancer and therefore Karl’s mom had a hysterectomy (removal of the uterus) at a young age

Gynecologic Cancers

Separate organs: cervix, ovaries and uterus

Uterus

Ovary

Cervix

Why does knowing about the type of cancer Grandma had make a difference?

Cancer types make us think about different cancer syndromes • Uterine + colon = Lynch syndrome• Breast + uterine = Cowden syndrome• Breast + ovarian = Hereditary Breast and

Ovarian cancer syndrome• Cervical = most often viral (HPV)• Not cancer at all (cysts)

Inherited Cancer

Sporadic70%

Familial25%

Hereditary5%

Inherited Cancer

• Cancer in young individuals (less than age 50) • Many generations affected with the same type or

related cancer on the same side of the family • Two primary cancers or two related cancers in same

individual

Gyn ca dx 42

Hysterectomy 40

3 colonic polyps

Dx 80

Dx 62

Family History

Personalized screening recommendations

genetic evaluation/testingpersonalized screening and risk reduction recommendations

General population screeningrecommendations

SporadicRisk: Average

FamilialRisk: Moderate

InheritedRisk: High

Classification: Who Needs What?

Screening on Tumor Tissue• Pathology looks for

markers in the colon cancer tumor that may identify those at risk for Lynch syndrome

• Can help rule out Lynch syndrome

Screening tests – These are not diagnostic!

Karl’s Story

• Karl’s tumor testing shows:– Absent MSH2, MSH6,

present MLH1, PMS2– Microsatellite

Instability

– Possible Lynch syndrome

– Recommend genetic testing

Why is knowing if my family has a hereditary cancer

syndrome helpful?

Stomach 19%

Endometrial 60%

Ovarian 11%

Biliary tract 18%

Urinary tract 10%

Colon 78%

Cancer Risks in Lynch Syndrome

CNS 4%

Sebaceous gland 9%

Other Cancer Risks • Possible pancreas, prostate, and

breast cancer risk• Not included as part of the

diagnostic group of Lynch-associated cancers.

• Some cancers of MMR mutation carriers demonstrated loss of protein expression by IHC and/or MSI-H

• Men with a MSH2 mutation appeared to have the greatest risk for prostate cancer.

Clin Cancer Res. 2010;16:2214–24; J Natl Canc Instit. 2012 Sep 19;104(18):1363-72

Cancer Screening- Lynch

• Colon- Colonoscopy- every 1-2 years

• Stomach- Upper Endoscopy- every 1-3 years

• Urine cytology & Kidney imaging• Uterus/Ovaries- Transvaginal ultrasound

yearly

• Physical Exam- yearly

Preventative Options- Lynch

• Removal of colon (colectomy)• Removal of uterus (hysterectomy) • Removal of ovaries (oopherectomy)• Medications to reduce polyp risk

All cancer is genetic but only a small portion is inherited

What is cancer?

MOMDAD

Hereditary Cancer Inheritance

Offspring have 50% of inheriting non-functioning cancer gene

Carrier CarrierNot carrier Not carrier

Carrier parent has a 50% or 1 in 2 chance to pass on the mutation with each pregnancy

What can I do?

Think back to what you know about your family history of disease

Identifying the IMPORTANT Family History

• BOTH SIDES OF THE FAMILY

• At least 3 generations• Specific diagnosis• Age at diagnosis • Determine the number of

family members without disease

Questions you can ask your family members…

• Did anyone pass away at a younger than average age from cancer?

• What kind of cancer did they have?• Do the same cancers keep appearing in

different family members?• Write it down!• Talk about it with your children and

grandchildren!

Confirming Family History Information

• Try to obtain written documentation of cancer diagnoses in the family

• Pathology reports• Genetic testing results• Medical records/treatment notes• Autopsy reports• Death certificate

If you have questions or concerns, visit a genetic counselor

• Cancer Genetic Professionals can assist with:– Analyzing family history and cancer risk

assessment– In-depth counseling and education– Discussion of complex psychosocial issues– Ordering and interpretation of genetic tests– Facilitating entry into clinical or research

studies as appropriate

Conclusion:

Talk with your doctor about your risk factors for cancer

and your family history so that you receive appropriate

screening and cancer prevention options.

Question & Answer Time . . .

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