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/

1. Welcome to Fight Colorectal Cancer’s
Webinar Session:
Family Genetics
Preparing for Health History Month
More About CRC Research and Treatment visit fightcrc.org
Our webinar will begin shortly.

2. 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

3. Introducing our much acclaimed:
Patient Resource Guide
Available online at:
http://fightcolorectalcancer.org/Gui
deInTheFight/

4. 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

5. Disclaimer
The 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.

6. Speakers
Lisa 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.

7. Genetics
and
Family
History

8. October is National
Family History Month

9. Common Diseases
• Cancer
• Heart disease
• Diabetes
• Hypertension
• Stroke
• Alzheimer's
• Arthritis
• Osteoporosis

10. Common Risk Factors for Disease
• Age
• Family history
• Ethnicity
• Lifestyle
• Diet
• Alcohol
• Smoking

11. Family History
Cancer Risk
Genes
Environment
Lifestyle

12. Family history information
is key

13. Cancer Risk Based on Family History
Sporadic
70%
Familial
25%
Hereditary
5%

14. 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

15. “Sporadic” Cancer
Sporadic
70%
Familial
25%
Hereditary
5%

16. “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

17. Classification: Who Needs What?
Family
History
General population screening
recommendations
Sporadic
Risk: Average

18. 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

19. “Familial” Cancer
Sporadic
70%
Familial
25%
Hereditary
5%

20. “Familial” Cancer
Dx 80
3 colonic
polyps
Dx 62
• 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

21. Classification: Who Needs What?
Family
History
General population screening
recommendations
Personalized screening
recommendations
Sporadic
Risk: Average
Familial
Risk: Moderate

22. 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)

23. 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)

24. 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

25. Gynecologic Cancers
Separate organs: cervix, ovaries and uterus
Uterus
Ovary
Cervix

26. 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)

27. Inherited Cancer
Sporadic
70%
Familial
25%
Hereditary
5%

28. Inherited Cancer
Dx 80
• 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 62

29. Classification: Who Needs What?
Family
History
General population screening
recommendations
Personalized screening
recommendations
genetic evaluation/testing
personalized screening and risk
reduction recommendations
Sporadic
Risk: Average
Familial
Risk: Moderate
Inherited
Risk: High

30. 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!

31. Karl’s Story
• Karl’s tumor testing
shows:
– Absent MSH2, MSH6,
present MLH1, PMS2
– Microsatellite
Instability
– Possible Lynch
syndrome
– Recommend genetic
testing

32. Why is knowing if my family
has a hereditary cancer
syndrome helpful?

33. Cancer Risks in Lynch Syndrome
Biliary tract 18%
Stomach 19%
Urinary tract 10%
Endometrial 60%
Ovarian 11%
Colon 78%
CNS 4%
Sebaceous gland 9%

34. 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

35. 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

36. Preventative Options- Lynch
• Removal of colon (colectomy)
• Removal of uterus (hysterectomy)
• Removal of ovaries (oopherectomy)
• Medications to reduce polyp risk

37. All cancer is genetic but only a
small portion is inherited

39. What is cancer?

40. DAD MOM

41. Hereditary Cancer Inheritance
Offspring have 50% of inheriting
non-functioning cancer gene

42. Carrier Not carrier Not carrier Carrier
Carrier parent has a 50% or 1 in 2 chance to pass on the mutation with each pregnancy

43. What can I do?
Think back to what you know about
your family history of disease

44. 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

45. 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!

46. 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

47. 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

48. 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.

50. Question & Answer Time . . .
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51. Contact Us
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