Post on 09-Apr-2020
Primary Care Patients at High Risk for Breast Cancers
Dr. Cody Gunn
Nothing to disclose
Kris Schultz Tanner
Nothing to disclose
Discuss the role of genetic predisposition in
breast cancer risk and identify potential
candidates for testing
Identify women who may be at high risk for
breast cancers
Describe current screening
recommendations for women at high risk for
breast cancers
Looking out for Genetic Risks
BRCA mutations in about 1:400-600 (10% of population)
o 1:40 Ashkenazi Jewish (Also recessive condition, Fanconi Anemia)
Not just “The Breast Cancer Gene”:
o BRCA 1: High-risk Breast and Ovarian Cancer, possibly Prostate
o BRCA 2: Breast, Ovarian, Prostate, Pancreatic, Melanoma
Others with high and moderate risks:
o CHEK2: Breast and Colon
o CDH1: Breast (Lobular) and gastric
o ATM: Breast cancer, possibly pancreas and prostate
o PALB2: Breast cancer, possibly ovarian
o PTEN: Breast, GI and other Hamartomas
o TP-53: Li-Fraumeni Syndrome: Sarcomas/other cancers
• 38 yo female
• No tobacco/nondrinker/distant marijuana use
• Medical/Surgical history negative, NKDA
• No meds outside of OCPs
• No pregnancies
• Menarche age 10
• Family history of a paternal aunt with breast cancer
• 38 yo female
• No tobacco/nondrinker/distant marijuana use
• Medical/Surgical history negative, NKDA
• No meds outside of OCPs How many years?
• No pregnancies
• Menarche age 10
• Family history of a paternal aunt with breast cancer
• Aunt was 35 at diagnosis
“How many women with
breast cancer do you have in
your family?”
“Tell me about the cancers in
your family on both sides.”
Anyone with Epithelial Non-Mucinous Ovarian Cancer
Breast cancer ≤50
Triple Negative ≤60
Breast cancer at any age with
o 2 relatives with same or Gleason ≥7/met Prostate or Pancreatic
o 1 relative dx ≤50, or
o 1 relative dx ovarian
Male Breast Cancer
Breast Cancer in AJ or other increased risk population
Metastatic Prostate Cancer
Known Familial Mutation
Close Relative with:
o a known mutation
o 2 breast primaries
o 2 individuals on same side of family w
breast cancer, 1 ≤50
o Ovarian Cancer
o Male Breast Cancer
Close relative w Breast Cancer Dx ≤45
3 Affected Relatives on Same
Side of Family
2 are First-Degree Relatives of
Each Other
1 Diagnosed Under age 50
POSITIVE: Known potentially damaging protein change
NEGATIVE: No known protein-altering changes found
VARIANT OF UNKNOWN/UNCERTAIN SIGNIFICANCE
o Innocent until proven guilty
o Seen in less than 1% of population
o CANNOT BE USED FOR CLINICAL DECISION MAKING
SNPs: Single Nucleotide Polymorphisms
o Seen in >1% of population
o Jury is still out: doesn’t always affect protein function
YES! DON’T BE A MEATHEAD!
• Does not negate family history or
personal risk factors
• Exception: negative with a known
family mutation
• Most women with breast cancers
DO NOT carry a known mutation
Options for patient care
Good news! Risk assessment was done for you!
o PARMC/STM includes Tyrer-Cuzick risk estimate in mammo report!
o Bad news! It could be going away from PARMC when they change
EMR
Refer to a high-risk breast clinic or to genetic risk
assessment
There’s an App for that!
• Only sees female 1st
degree relatives
• Used to determine
Tamoxifen prophylaxis
• 5-yr >1.67%
• Adds Ovarian Cancer
(only in FDR)
• Includes up to 2nd
degree relatives w
breast cancer
• Only sees family history
• Doesn’t count anyone
diagnosed over 50 or
male breast cancer
• 36 yo female
• No tobacco/nondrinker/distant marijuana use
• Medical/Surgical history negative, NKDA
• No meds outside of OCPs How many years?
• No pregnancies
• Menarche age 10
• Family history of a paternal aunt with breast cancer
• Aunt was 35 at diagnosis
GLORIA MAY BE AT HIGH RISK
Family History o 2 or more primary breast cancers in a single relative
o 2 or more family members w BC on same side of family, one <50
o Relative with ovarian/fallopian cancer
o Male breast cancer
o 1st or 2nd degree relative diagnosed <45
o 3 or more relatives with cancers on same lineage • Don’t just ask about BREAST cancers!
Ethnicity o Ashkenazi Jewish/Eastern European
Increasing Age
Age 30-39 1-233
Age 70-80 1-27
Overall Breast Cancer Rate is 1 in 8 or 12% of women
Lifestyle Factors
o Increased BMI
o Alcohol Consumption
o Hormone therapy
Reproductive History
o Younger menarche
o Nulliparity/Low parity
o Older first birth
o Older menopause
Thoracic irradiation <30 (Hx of Hodgkin Lymphoma)
Hx of atypia/LCIS/number of biopsies
Dense breast tissue
Proliferative histologic findings found at biopsy
Considered high risk lesions associated with increased
lifetime risk for breast cancer
Cumulative risk is about 25-30% at 30 years
• OR
4 times to risk of breast cancer compared with women who
do not have atypia
Risk affects both breasts
Focus on careful surveillance and risk reduction strategies
Incidental diagnosis on breast biopsies
Marker for increased lifetime risk for breast cancer
More common in premenopausal women
Risk for breast cancer is 7-11 times higher than for women
without LCIS
Absolute risk is 1% per year and is lifelong to about 35%
Most women will never develop breast cancer
Focus on careful surveillance and risk reduction strategies
The relative amount of glandular and connective tissue to
adipose tissue
Glandular tissue greater than or equal to 75% of the breast
Risk is 2-5 times the breast cancer risk compared with
women with less or no dense breast tissue
Michigan Breast Density Notification
Carson-Tahoe Health
Current NCCN Guidelines
• 62 yo female
• Med Hx: HTN, on Lisinopril and Ca/Vit D
• Surg: Lap chole at 46, tubal ligation age 34
• ALL: NKDA
• G1P1, 1st birth age 24, menarche age 13
• Menopause age 49, no hormone replacement or OCPs
• Great aunt with hx of breast cancer at 74, no other
known family hx of cancers
• Annual screening mammography since age 50, no
abnormals
Average Risk: Annual Clinical Encounter, Mammography
+/- tomo, Breast Awareness
• Determining Risk
• Family/Personal History-Based
Models
• BRCAPRO, Claus, Tyrer-
Cuzick,
• >20% lifetime risk is
considered HIGH RISK by
the ACS
Clinical encounter every 6-12 months
o Begin when high risk identified
o Refer for genetic risk screening
Annual screening mammogram
o Begin 10 years before dx of youngest family member but not <30
o Consider tomosynthesis
Recommend annual breast MRI*
o Begin 10 years before dx of youngest family member but not <25
o *MRI IS (kind of) ALWAYS DIAGNOSTIC
Breast awareness
Risk-reduction
Increased sensitivity
Not specific for breast cancer
Could lead to additional benign breast biopsies
Typical insurance coverage is dependent on the patient’s
plan
Clinical encounter every 6-12 months
o Begin when high risk identified
o Refer for genetic risk screening
Annual screening mammogram
o Begin 10 years before dx of youngest family member but not <30
o Consider tomosynthesis
Recommend annual breast MRI*
o Begin 10 years before dx of youngest family member but not <25
o *MRI IS (kind of) ALWAYS DIAGNOSTIC
Breast awareness
Risk-reduction
Tamoxifen-premenopausal women
Most significant risk reduction is with atypical hyperplasias and
LCIS
Decrease risk of breast cancer development by 50% or more and
up to 85% in some
Treatment is 5 years with benefit out to 15 years, especially if
treatment begins before age 50
Side effects include hot flashes, venous thrombosis (greater with
tamoxifen), uterine cancer (postmenopausal women/tamoxifen)
Raloxifen and aromatase inhibitors (Arimidex and Aromasin) for
postmenopausal women
After negative BRCA testing, Gloria is still at 22.6% risk (but
down from 28%)
Referred to High Risk Breast Cancer Clinic
o MRI and mammography, alternating every 6 months
o CBE every 6-12 months
o Encourage breast awareness
o Risk-reduction
• Nutrition and exercise
• Gail model 5-year risk is 0.6%
• Below threshold for considering SERM prophylaxis; numbers change with
age, will reassess next year
Kris: 706-475-5324 Dr. Gunn: 706-549-5554