Join Gynecologic Oncology and wellness experts for a special "brunch and learn," event for ovarian, cervical and other gynecologic cancer survivors and champions. Speaker-led sessions will cover innovation in treatment and complementary medicine to help manage menopause and other symptoms. Moderated by Darlene Gibbon, MD. FACOG, Medical Director of Gynecologic Oncology.
Other event materials can be found under the Patient Tools tab on this page: https://www.summitmedicalgroup.com/service/gynecological-oncology/
2. Moderator
Darlene Gibbon, MD, FACOG
Director of Gynecologic Oncology
Darlene Gibbon, MD, FACOG
Director of Gynecologic Oncology
3. Genetics & Its Impact on
Gynecologic Cancers: Diagnosis to
Treatment
Terri Febbraro, MD, MPH, FACOG
September 7th 2019
Surviving and Thriving with Gynecologic Cancer Series
4. Genetics & Gynecologic Cancer
• 20-25% of women with ovarian cancer
• 5% of women with uterine cancer
Have a hereditary predisposition for cancer
development
SGO Genetic toolkit
6. Germline vs Somatic Mutations
• Present in sperm or egg
• Occurs in all cells
• Are heritable
• Occurs in non-germline
tissue (tumor cells)
• Are not heritable
7. Hereditary Cancers
• Result from mutations in genes which
you are born with and can be passed
down to off spring
• Typically see a pattern across familial
generations
• Early age of diagnosis
• Development of multiple cancer
subtypes
8. Hereditary Breast &
Ovarian Cancer Syndrome (HBOC)
• Inherited germline cancer susceptibility syndrome
characterized by multiple family members with breast,
ovarian, pancreatic, prostate cancer and melanoma.
• Genes associated with increased risk for ovarian cancer
BRCA 1 & 2, MSH2, MLH1, MSH6, PMS2, EPCAM,
BRIP1, RAD51 C & D, PALB2, BARD1, TP53, STK11,
ATM
9. BRCA 1 & 2
• BRCA 1 and 2 genes are located on
chromosome 13 and 17 respectively
• Function to create proteins that help
repair damaged DNA and prevent
tumor growth
10.
11. Hereditary Breast &
Ovarian Cancer Syndrome
Cancer BRCA 1 BRCA 2
Breast 55-78% 45-47%
Ovarian 40-54% 11-27%
Randall L, Pothuri B et al. 2017
V
BRCA 1& 2 increase risk of ovarian cancer 40x that of
the general population
12. Lynch Syndrome &
Cowden Syndrome
• Lynch: Increased risk of colon, endometrial,
stomach, ovary, and kidney cancer
Genes involved: MLH1, MSH 2, MSH6, PMS2,
EPCAM
• Cowden: Increased risk of endometrial, breast,
thyroid
Gene involved: PTEN
13. Lynch Syndrome
Genes that encode for proteins to ensure correct
duplication of DNA are mutated leading to the
production of cells with many mutations in the
DNA and uncontrolled cell growth.
14. Cancer Risk
Gene Endometrial cancer risk Ovarian cancer risk
MLH1 40-57% 5-20%
MSH2 40-60% 10-38%
MSH6 17-46% 1-10%
PMS2 15% 0%
EPCAM Evolving, similar to MSH2 Evolving, similar to MSH2
Domchek S, ME Robson. 2019
17. Background
• Genetic testing became available in 1990s
• 2013 supreme court prohibits patents on
specific human DNA sequences
Opened availability of testing
Development of new technology
18. Testing Recommendations
NCCN guidelines:
All women with ovarian/fallopian tube/primary
peritoneal cancer
• Exception: borderline & mucinous
Uterine cancer < 50 years old
Uterine cancer > 50 years old + 1st degree
w/uterine or colon cancer
Synchronous colon & uterine cancer
Cancer w/evidence of mismatch repair deficiency
19. Genetic Testing Process
• Identify women at risk
• Consultation with genetic expert to collect a
detailed family history
• Identify appropriate testing
• Insurance preauthorization
• Collection of saliva and/or blood
• Post test counseling
20. Benefits of Testing
• Personalized prognosis
• Enhanced risk assessment for synchronous
cancers
• Inspire other family members to get tested
• Ensure family members are proactive about
managing cancer risk
• Triage to targeted therapies
21. Risks
• Anxiety or depression from positive or
uncertain test results
• Fear of discrimination
• Guiltily sentiment
• Change in family dynamics
• Financial costs of testing
22. Genetic Information
Nondiscrimation Act
(GiNA)
• Federal law to protect against discrimination
by employers or health insurers based on
genetic information.
• Disability and life insurance are not includeds
excluded
23. Financial Cost
• Typically covered for women meeting hereditary
cancer criteria
Insurance agency may have slight variations
• Affordable Care Act:
Covers BRCA gene counseling & testing
Lynch testing or testing in men not covered
• Medicare and Medicaid
One time testing for those with cancer
• Financial assistance programs
24. Testing Options
• Individual gene
Used with a known familial or somatic mutation
• Multiplex panel
Significant family history with negative individual
gene testing
Wider risk assessment
• Cascade
Blood relative testing of individuals identified with
specific mutations
25. Test Results
Genetic Testing in Gynecologic Cancers
• GOAL: Identify germline DNA mutations in cancer
susceptibility genes
Sequence Variant
Polymorphism
(Benign)
Variant of Uncertain
Significance (VUS)
Mutation
(Deleterious)
26. Results
• Positive
Mutation identified associated with hereditary
cancer syndrome
• Negative
No mutation found
• Variant of uncertain significance (VUS)
Changes in the sequence of DNA detected but
not enough info is known to classify it as disease
causing
27. I carry a mutation…
so now what?
Women without cancer
28. Surveillance
• Screening for ovarian cancer is not
recommended; does not reduce ovarian
cancer mortality or increase survival
Annual CA 125 and TVUS
• Screening for endometrial cancer:
Endometrial biopsy starting at 35 years of age
every 1-2 years can be considered
NCCN guideline, 2019
29. Risk Reducing Options
• Oral contraceptive pills
• Risk reducing bilateral salpingo-oophorectomy
BRCA 1: 35-40 years of age
BRCA 2: 45 years of age
BRIP1, RAD51C&D: 45-50 years of age
• Consider hysterectomy/BSO in those at risk for
Lynch
PMS2 BSO not indicated
30. Risk Reducing Bilateral Salpingo-
oophorectomy Benefit
• Risk of ovarian cancer is reduced by 80%
• Risk of breast cancer reduced 37-80%
• Decreased overall mortality
Rebbeck TR, Kauff ND et all, J Natl Cancer Inst 2009
31. Reproductive Concerns
• Freeze eggs prior to treatment
• Preimplantation genetic diagnosis in
woman who are carriers
Requires IVF for embryo screening
32. I carry a variant of uncertain
significance (VUS)…
so now what?
33. Variant of Uncertain Significance
• Treatment should not be based on VUS
• Keep contact info updated
Notified of reclassifications
34. I carry a mutation…
so now what?
Women with a cancer
diagnosis
37. Parp Inhibitors
FDA approved oral treatments
• Lynparza (Olapraib):
After 3 or more lines of tx
Maintenance therapy after initial treatment
• Rubraca (Rucarparib):
After 2 or more lines of tx
Maintenance therapy after initial treatment
• Zejula (Niraparib)
Maintenance therapy after two or more lines of tx
38. Parp Inhibitors
• Improvement in progression free survival and
overall response rate
SOLO-1 trial 60% vs 27%
• Combination therapy with immunotherapy or
anti-angiogenesis treatment
Numerous trials are underway
• Expansion to women without BRCA mutation
39. Pembrolizumab (Keytruda)
• Immunotherapy targeting PDL-1
• FDA approval for treatment of advanced
tumors that are mismatch repair deficient or
microsatellite instable after one line of
treatment.
May be given in combination with Lenvatinib
• IV infusion every three weeks
40. Trastuzumab (Herceptin)
• Monoclonal antibody that binds to the HER-2
receptor to block cell proliferation
• Mutation is identified during somatic testing of
serous uterine cancer
• Given in combination with carbo/taxol
41. Conclusions
• Increased genetic testing options due to technologic
advancement enhancing accessibility
• Broader knowledge of genetic contribution to cancer
development
• Implementation of genetic testing results represents
advancement in precision medicine and progress to
targeted treatment that are leading to improved
outcomes and survival
44. Guide to Eating an
Anti-Inflammatory Diet
Christina Lavner, RD
45. QUIZ:
1)Does eating a Mediterranean diet or plant
based diet mean I can only eat Italian or
Greek dishes?
NO!! A Mediterranean diet is a pattern of
eating that can offer health protective
potential by avoiding adult weight gain and
preventing metabolic changes that can lead
to cancer & other disease development.
46. 2) Does eating a Mediterranean
diet or plant based diet mean I
have to become a vegetarian?
NO!! The goal is to increase the
fiber in your diet & change the
way we think about protein
foods.
47. 3) Does eating a Mediterranean diet or
plant based diet mean I will have no
flavor in my food?
NO!! Spices are not only delicious the are
good for us! Many spices such as
Turmeric, Ginger, Garlic, etc. are
considered anti-inflammatory foods,
when we EAT them!
48. 4) Is eating green veggies, like Kale,
Broccoli, Spinach better for me than other
vegetables?
NO!! No one veggie is more important than
another. It is the combination of eating a
variety of fruits and veggies that create a
synergistic effect to make our bodies as
healthy as possible & have the ability to
fight off disease.
49. 5) Is diet more important than exercise
in preventing cancer or other
diseases?
NO!! Exercise plays a key role in
maintaining good health. A recent
study found that adding exercise,
independent of diet, decreases 17
different types of cancer by 50-55%.
We are meant to move!
50. A few things to note when we talk about
cancer prevention:
1)Any “diet” you choose has to be
sustainable for the rest of your life
2)Exercise should be considered
“medicine” not “torture”
3)No food can cure cancer
4)It’s not just food that keeps us healthy –
our mental/emotional state plays a
big role in our health.
Sometimes we need to feed our soul.
52. Step #1:
It isn’t just about food,
it is why we eat it.
This isn’t just another “diet”,
it is a lifestyle.
A commitment to yourself for long
term good health.
A commitment to allow your body to
be as healthy as possible.
53. Step #2
Get rid of processed foods in your
diet. Move to a more all natural diet.
Increase: fruits, vegetables & whole
grains in your diet.
Decrease: white flour, cakes, candies,
cookies and other processed or fast
foods.
55. Step #4:
Reduce the amount of red meat in
your diet and increase fish & non-
meat protein sources.
For example, nuts, beans, seeds,
tofu, non-fat dairy products
56. Step #5:
Eat the colors of the rainbow!
The different colors of fruits &
vegetables represent the variety of
different protective compounds they
offer. The more colorful your plate is
the more abundant the nutrients are.
57. Step #6:
Skip the salt!
Use different herbs and spices to
season your food, such as
Turmeric, Ginger, Garlic,
Rosemary, Basil, Oregano,
Parsley, etc.
58. Step #7
Drink Water!!
New recommendations are half
your body weight in oz. of
water.
Start with 64 oz. per day
59. Step #8
Drink red wine in moderate (optional)
No more than 2 glasses per day for
men
& 1 glass per day for women.
AICR recommends no alcohol for
cancer prevention.
60. Step #9
Take small steps!!
You don’t have to be perfect
tomorrow.
Make small changes that are
realistic and achievable.
NO perfection or extremes!!
61. INFORMATION OVERLOAD!!
Doing the right thing
is confusing!!
*90% of health information &/or claims on
the internet are based on someone’s option or
information that was made up to sell a
product.
NOT everything you read on the internet is
true!!
62. Small Realistic Changes
Instead of saying “I’m never eating any
CARBS ever again”
Try cutting out processed foods or
sweets,
i.e.: chips, cookies, baked goods, etc.
Change from French Fries to a baked
potato or a side of vegetables instead.
63. Exercise is Medicine!!
Add exercise in as much as possible - the goal is to prevent
metabolic changes.
As we age, we lose lean mass or muscle, you need to work to
maintain it or you can lose up to a pound of muscle every year.
It is replaced with fat!
Muscle burns 9 calories an hour & fat burns 3 calories an hour to
maintain it’s state.
Muscle burns 3x’s more calories!!
64. Less muscle + More fat +
decreased physical activity +
unchanged eating patterns =
Difficulty losing weight &
keeping it off.
Weight Gain = Metabolic Changes =
Increased Cancer Risk
65. Healthy Fats … Not High Fat!
Healthy fats are linked to:
Lower Cholesterol levels,
Healthy Hearts
Weight Loss
Overall Fewer Health Problems
Avocado, Olives, Olive Oil, Walnuts, Seeds,
etc.
68. Summary:
1) Vegetable – At least 6 servings per day
2) Fruit – 2-3 servings per day
3) Dairy – 2-3 servings per day, avoid processed
cheeses
4) Meat – 1x week or less
5) Chicken – 2x week
6) Fish & Seafood – At least 3x week
7) Grains & Breads – Bread 3 slices/day, Pasta 1x
week, other grains 1x week
8) Fats & nuts – At least 3 Tbsp. Olive Oil per week
& 3 servings of nuts & seeds per week
9) Beans – 2-3 servings per week
77. Topics for Discussion
• Diagnosis
• Treatment
• Survivorship (up to 2 years)
• Survivorship (2+ years)
• Resiliency and Post Traumatic Growth
• Helpful Tools, Strategies and Techniques
• Resources
78. Why Me?
• My Background/Story
• Therapy Patients with a Cancer History
• Therapy Patients with Family Members
that have had Cancer
• 14 years of Leading Support Groups
79. Statistics
• By 2026, there will be over 20 million cancer
survivors in the US alone
• Over 100,000 women a year are diagnosed
with a gynecologic cancer
• 18-25% of long-term cancer survivors report
anxiety
• Fear of recurrence specifically is much
higher (up to 80%)
• PTS/PTSD in survivors: 5 – 60%
• Cancer related distress: 35 – 43%
82. The First Month
• Biopsy/Surgery/Staging
• Decisions about Treatment
o How was information presented?
o How quickly did you have to make
decisions?
o Any personal experience with cancer?
o Know others that have been through this?
o Have faith in the Treatment Team?
o If there were options, was there stress of
making the "wrong" decision?
83. Distress Thermometer
• Given at various points through the journey
o Practical Problems
o Family Problems
o Emotional Problems
o Spiritual/Religious Concerns
o Physical Problems
84. PTS/PTSD In Cancer Patients
• Anxiety disorder that can be brought on by a traumatic
event
• Event is life threatening
• Difficulty with daily functioning
• PTS vs. PTSD
• Symptoms to highlight:
o Reliving the event, avoiding situations that
are reminders, trouble sleeping, intense feelings of
fear, bouts of crying, difficulty in relationships, being
irritable or numb, trouble concentrating,
remembering & focusing, negative changes in beliefs
& feelings
85. During Treatment
• Patient rarely seek out help in this stage
• Following orders (like a soldier)
• Physical symptoms dominate:
o Fatigue
o GI Problems
o Appetite/Weight
o Hair Loss
o Blood levels
o Infection
86. Survivorship post treatment -
2 years out
• Emotions are confusing!
• The toughest time – most likely to seek help or
experience symptoms
• Realize what you survived
• The "island" phenomenon
• Returning to a life that the new you doesn't quite
know how to navigate
o Wants and needs have changed
o Abilities may be different
• Long term side effects and obstacles
• Fear of recurrence
87. Survivors 2+ years out
• Continued adjustment in the role that
"survivor" takes on
• Regular scans and check-up remain stressful
times with fear of recurrence
o Important to note how normal this is
• Potential increased health anxiety in general
• Life's landscape may begin to change
88. Additional Struggles
• Sexual Dysfunction
• Relationships
o Partner, children, friends
• Body Image
• Mood disorders
• Loss of $$$, job, career
• Grief
• Survivor Guilt
• Identity Crisis
89. Resiliency
• Ability to maintain or restore relatively stable
psychological and physical functioning when
confronted with stressful life events and adversity
• In the context of cancer: an individual’s protective
attributes and/or personal characteristics, which are
thought to be modifiable and to promote
successful adaptation to cancer
• Those who are resilient may also experience post-
traumatic growth
90. Post-Traumatic Growth
• Fairly new terminology in cancer literature
• 53-83% reported lives changed positively after
cancer, and they used coping skills
• Positive life changes that develop over time as a
result of the struggle with a traumatic experience
• A change in self-perception (empowerment)
• A change in relationships with others
o Improve or lose
• A changed philosophy of life
o Priorities, goals, appreciation for life,
spiritual gains, lifestyle adjustments
91. Promoting Emotional
Resilience & Recovery
At any point in the journey:
• Ask for help
• Self-Care
• Find Ways to Express Emotions
• Allow private time and space (journal, meditate)
• Exercise (as gentle as necessary)
• Find others that have been where you are, that
"get it" and can relate
• Take back control where you can (cultivating
healthy habits, etc.)
92. Additional Techniques
• Post trauma Vision Board
• Schedule Time to Think
• Evidence For and Against
• Change the Narrative
o Adjust the words
o "I am having the thought that..."
• Mindfulness (5,4,3,2,1)
• LAUGH
93. Treatment
• Therapy with someone who understands trauma
or life-threatening medical conditions
• Medication to ease symptoms
• Support Groups
• Specialists (sexual dysfunction, physical
therapy, nutritionist, other MDs)
• Self Help
o Books/Organizations/Podcasts/Conferences
94. From Cancer Transitions
"Cancer brings changes that are not
always for the worst and may bring
about healthy personal growth.
The cancer experience and your
emotional responses can become
important resources as you face your
future."
Starts October 17th
To register, call Jill Kaplan at 908-658-5400
97. • Traditional Chinese Medicine has been used for over 4000 years to
diagnose, treat and prevent disease.
• Acupuncture and Qigong are two modalities in this medicine
• Based on the theory of Yin and Yang
History
98. Theory of Yin and Yang
• This theory states that there are opposing yet complementary forces
in nature.
• These forces have to stay in balance to maintain a healthy body
99. Examples of Yin and Yang
Yin Yang
Night Day
Darkness Brightness
Cold Heat
Moisture Dryness
Rest Movement
Passivity Activity
Feminine Masculine
100. Meridians
• In Oriental medicine we work on pathways called meridians
• There are 12 main meridians.
• Each is named after an organ in the body
101. Qi
• An energetic force called Qi flows through the meridians
• Disharmony results when Qi is disrupted by illness, emotional trauma,
• Medication, lack of rest, overwork, dehydration, poor nutrition
• Disharmony is an imbalance in the body
102. Western Theories on Acupuncture
Neurotransmitter theory
Acupuncture may release or regulate neurotransmitters and cause an analgesic effect to modify pain
Stimulate the body’s capacity to heal
Release opioids and endorphins – Impact the limbic system and effect mood an emotions
Gate theory-
Change the perception of pain in the brain
Blood Chemistry theory-
Acupuncture has an impact on blood chemistry. Point combinations used to increased blood cell counts
Boost the immune system
Meridians are thought to lie along fascial planes between muscles bones and connective tissue.
Thought to improve nerve conduction and when acupuncture points are combined with electric stim.
can accelerate nerve repair.
Needles cause a controlled microtrauma that can lead to an inflammatory response- regulate antibodies
and stimulate pain receptors.
103. Body Acupuncture
• Fine needles are inserted along meridians
to manipulate Qi and bring the body into a
balanced state
• Acupuncture points are where the pathway
comes close to the surface of the body
104. Auricular Acupuncture
• The entire body is reflexed
on the ear
• Can be used to treat the
physical body and emotions
• Can be used for self care
105. What does acupuncture treat?
The WHO lists a wide range of medical problems that acupuncture
treats including Neurological disorders, Orthopedic disorders,
gastrointestinal disorders, respiratory disorders, gynecological
disorders, chronic disorders including insomnia, stress and
addictions.
Acupuncture is used to treat side effects from Chemotherapy, RT,
and is used pre and post operatively to aid in healing.
106. Acupuncture’s Role in Cancer Treatment
Acupuncture is used to support your treatment
Point combinations are used to:
• Relieve nausea and vomiting
• Regulate bowels- constipation and diarrhea
• Regulate urination
• Reduce hot flashes
• Boost energy
• Improve sleep
• Improve salivation in cases of xerostomia
• Control allergic reactions
• Increase antibodies
• Improve T-cell count
• Improve Red and white blood cell count
• Enhance ovulation
Allopathic medicine treats cancer
107. Benefits Pre and Post Surgery
Pre surgery
• Promotes relaxation
• Helps to alleviate side effects
Post surgery
• Decreases swelling
• Improves mental alertness
• Improves intestinal motility and urination
• Promotes incisional healing
108. Other Considerations
• Meridians go from the head to the toes and chest to the arms
• One end of the body can be used to treat the other
• The site of a tumor, surgical incision or limb with lymphedema
need not be needled to treat the problem
Examples- the ankle can be used to treat the neck or the wrist; the
elbow can treat the knee; one side of the body can be used to treat
the other.
109. Self Care
I think I can say that all of your healers work in a partnership with
our patients. We are with you a relatively short time throughout the
week so self care is of great importance. This means focusing on
the physical through exercise, nutrition, hydration and the psycho-
emotional. We know that attitude has a great impact on healing!
110. Qi Gong
Qi is translated as life force or energy
Gong is translated as to cultivate
Together this exercise cultivates energy
• Enhances mental, physical,
spiritual and emotional well-
being
• Exercises combine movement,
breathing and visualization
• Some forms use stillness and
meditation
Notas do Editor
Increase in technology
Increase in acceptable options for prevention and targeted chemotherapt makes heredtiatry cancer a topic on the forefront of clinical practice
Although number for lynch is small, there are more woman diagnosed with endo ca and hence this 5% represents a significant number of women.
So when we talk about mutations, there are two types that we are speaking of
1 the germline that is passed down though sperm and egg
Somatic that is found in other tissue
HBOC is the result in a mutatation in a number of genes. Th emost common ones are listed here.
However the most common are BRCA 1 and 2. Everyone has BRCA genes, Problems arise when there are mutations in DNA and create a protein that doesn’t function properly so cells overgrow. Not all women with mutation sin these genes get cancer but they are at an increased risk.
This chart shows the risk of developing either breast or ovarian cancer carryin a BRCA mutation. As you can see the risk is higher with BRCA 1
Lifetime risk of developing endo ca with Lynch is 70% Pothuri
3% of all endometrial cancer cancer are attributed to Lynch, women less than 50, up to 9%
50% of cases endo Ca is the sentinel cancer
MLH1 and MSH2 mutation result in cancer more frequently than PMS2 and MSH6
MSH2 25-60% risk of uterine ca 5-24% ov ca
PMS2 15% endo and 6% ov ca
EPCAm similar risk to MSH 2
IHC or MMR
Rates are still low, 30%
Racial disparities exist
After this ruling, the number of companies offering genetic testing expanded and the technology they used exploded from sanger sequencing to next generation sequencing.
NCCN SGO and ASCO logs as they have all recommended testing
All women <60 should have MSI testing
Typically visit is in person.
Can also be done in providers office
Moving towards phone and telemedicine
Children should not be offered testing until age 18
Good to discussed with counselor
Not panel testing
Next gen started in 2013
Non BRCA genes make up 6-10% of inherited serous ov ca
As cost goes down and we are idetfiying new genes implicated in cancer susceptibility that panel testing is becoming increasing utilixed.
Clinical decisions should not be made on VUS
UTTOKC
Postmen consider US not for premen
Recommendation for BSO after child bearing is complete.
Performing a salpingectomy with delayed oophorectomy has not yet been proven and remains a clinical trial
Hyst doesn’t reduce mortality