family genetics - having the conversation with family
DESCRIPTION
Learning about health, family history and what information to collect is important! As we prepare for November as Health History Month, the holidays provide an excellent opportunity for families to share health history. This webinar will help you learn about colorectal cancer and cancer diagnosis, and what this means for you and your family. We’ll give you tools and resources that help you collect this important information. http://fightcolorectalcancer.org/get-resources/webinar-series/TRANSCRIPT
Welcome to Fight Colorectal Cancer’s Webinar Session:Family Genetics
Preparing for Health History MonthMore About CRC Research and Treatment visit fightcrc.org
Our webinar will begin shortly.
Today’s Webinar:1. Today’s Speaker: Lisa Ku, MS CGC & Lisen Axell, MS, CGC
2. Archived Webinars: FightColorectalCancer.org/Webinars
3. AFTER THE WEBINAR: expect an email with links to the material. Also a survey on how we did, receive a Blue Star pin when completed
4. Ask a question in the panel on the RIGHT SIDE of your screen
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DisclaimerThe information and services provided by Fight Colorectal Cancer are for general informational purposes only. The information and services are not intended to be substitutes for professional medical advice, diagnoses, or treatment.
If you are ill, or suspect that you are ill, see a doctor immediately. In an emergency, call 911 or go to the nearest emergency room.
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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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