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
![Page 1: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/1.jpg)
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.
![Page 2: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/2.jpg)
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
5. Follow along via Twitter – use the hashtag #CRCWebinar
![Page 3: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/3.jpg)
Introducing our much acclaimed: Patient Resource
Guide
Available online at: http://fightcolorectalcancer.org
/GuideInTheFight/
![Page 4: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/4.jpg)
Fight CRC Funding Science
Established in 2006, our Lisa Fund has raised hundreds of thousands of dollars to directly support the innovative research in treating late-stage colorectal cancer.
100% of the funds donated go directly to Late-stage colorectal cancer research.
Learn more or donate:FightColorectalCancer.org/LisaFund
![Page 5: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/5.jpg)
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.
Fight Colorectal Cancer never recommends or endorses any specific physicians, products or treatments for any condition.
![Page 6: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/6.jpg)
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.
![Page 7: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/7.jpg)
Genetics and
Family History
![Page 8: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/8.jpg)
October is National Family History Month
![Page 9: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/9.jpg)
Common Diseases
• Cancer• Heart disease
• Diabetes• Hypertension
• Stroke• Alzheimer's
• Arthritis• Osteoporosis
![Page 10: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/10.jpg)
Common Risk Factors for Disease
• Age• Family history
• Ethnicity• Lifestyle
• Diet• Alcohol• Smoking
![Page 11: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/11.jpg)
Cancer Risk
Family History
GenesEnvironment
Lifestyle
![Page 12: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/12.jpg)
Family history information is key
![Page 13: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/13.jpg)
Cancer Risk Based on Family History
Sporadic70%
Familial25%
Hereditary5%
![Page 14: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/14.jpg)
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
![Page 15: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/15.jpg)
“Sporadic” Cancer
Sporadic70%
Familial25%
Hereditary5%
![Page 16: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/16.jpg)
“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
![Page 17: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/17.jpg)
Family History
General population screeningrecommendations
SporadicRisk: Average
Classification: Who Needs What?
![Page 18: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/18.jpg)
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
![Page 19: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/19.jpg)
“Familial” Cancer
Sporadic70%
Familial25%
Hereditary5%
![Page 20: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/20.jpg)
“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
![Page 21: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/21.jpg)
Family History
Personalized screening recommendations
General population screeningrecommendations
SporadicRisk: Average
FamilialRisk: Moderate
Classification: Who Needs What?
![Page 22: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/22.jpg)
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)
![Page 23: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/23.jpg)
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)
![Page 24: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/24.jpg)
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
![Page 25: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/25.jpg)
Gynecologic Cancers
Separate organs: cervix, ovaries and uterus
Uterus
Ovary
Cervix
![Page 26: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/26.jpg)
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)
![Page 27: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/27.jpg)
Inherited Cancer
Sporadic70%
Familial25%
Hereditary5%
![Page 28: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/28.jpg)
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
![Page 29: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/29.jpg)
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?
![Page 30: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/30.jpg)
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!
![Page 31: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/31.jpg)
Karl’s Story
• Karl’s tumor testing shows:– Absent MSH2, MSH6,
present MLH1, PMS2– Microsatellite
Instability
– Possible Lynch syndrome
– Recommend genetic testing
![Page 32: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/32.jpg)
Why is knowing if my family has a hereditary cancer
syndrome helpful?
![Page 33: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/33.jpg)
Stomach 19%
Endometrial 60%
Ovarian 11%
Biliary tract 18%
Urinary tract 10%
Colon 78%
Cancer Risks in Lynch Syndrome
CNS 4%
Sebaceous gland 9%
![Page 34: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/34.jpg)
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
![Page 35: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/35.jpg)
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
![Page 36: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/36.jpg)
Preventative Options- Lynch
• Removal of colon (colectomy)• Removal of uterus (hysterectomy) • Removal of ovaries (oopherectomy)• Medications to reduce polyp risk
![Page 37: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/37.jpg)
All cancer is genetic but only a small portion is inherited
![Page 38: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/38.jpg)
![Page 39: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/39.jpg)
What is cancer?
![Page 40: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/40.jpg)
MOMDAD
![Page 41: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/41.jpg)
Hereditary Cancer Inheritance
Offspring have 50% of inheriting non-functioning cancer gene
![Page 42: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/42.jpg)
Carrier CarrierNot carrier Not carrier
Carrier parent has a 50% or 1 in 2 chance to pass on the mutation with each pregnancy
![Page 43: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/43.jpg)
What can I do?
Think back to what you know about your family history of disease
![Page 44: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/44.jpg)
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
![Page 45: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/45.jpg)
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!
![Page 46: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/46.jpg)
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
![Page 47: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/47.jpg)
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
![Page 48: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/48.jpg)
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.
![Page 49: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/49.jpg)
![Page 50: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/50.jpg)
Question & Answer Time . . .
DONATE $10 NOW on your mobile.
Text “FCRC” to 501501
(A $10 donation to Fight Colorectal Cancer will be deducted from your cell phone bill. Message rates apply.)
BECOME AN ADVOCATE. Learn more at FightColorectalCancer.org/Advocacy
How can YOU help? Join us.FightCRC.org
![Page 51: Family Genetics - Having the Conversation with Family](https://reader033.vdocument.in/reader033/viewer/2022060111/5567f9bdd8b42aaf768b4fbe/html5/thumbnails/51.jpg)
Contact UsFight Colorectal Cancer1414 Prince Street, Suite 204Alexandria, VA 22314(703) 548-1225Resource Line: 1-877-427-2111
www.FightColorectalCancer.org
facebook.com/FightCRC
twitter.com/FightCRC
youtube.com/FightCRC
pinterest.com/FightCRC