Breast Cancer: BRCA1/2 Erin Hayes Foundations of Medicine Blue Valley CAPS October 28,

OUTLINE: Types of Breast Cancer Breast Cancer Risk Factors BRCA1/2 (Mutations, Treatment) Cancer-Related Careers 2

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4 Types of Breast Cancer nationalbreastcancer.org Certain breast cancers are fueled by hormones and/or growth receptors: ER+ = estrogen receptor – estrogen binds and stimulates cell proliferation PR+ = progesterone receptor – progesterone binds and stimulates cell proliferation HER2+ = epithelial growth factor – HER2 binds and stimulates cell proliferation

5 Types of Breast Cancer Cell Proliferation and Growth! Binds ERBinds PRBinds HER2 nationalbreastcancer.org EPIDERMAL GROWTH FACTOR Three bodily chemicals that fuel cancer growth:

Types of Breast Cancer Luminal A = ER+/PR+, HER2- Luminal B = ER+/PR+, HER2+ HER2-overexpressing = ER-, PR-, HER2+ Basal = ER-, PR-, HER2- 70% of Breast Cancers 6

OUTLINE: Types of Breast Cancer Breast Cancer Risk Factors BRCA1/2 (Mutations, Treatment) Cancer-Related Careers 7

Breast Cancer Risk Factors 8 nationalbreastcancer.org

9 Sporadic vs. Familial Cancer Sporadic = Mutation-driven Familial = Inherited mutation + “loss of heterozygosity” Oncogenes increase cell growth and proliferation while tumors suppressors decrease cell growth and proliferation. 35% of breast cancers are familial (inherited) 65% of breast cancers are sporadic, meaning they spontaneously arise due to mutations For familial cancer, “loss of heterozygosity” causes the cells to lose the function of a particular protein. This could cause the cancer to start forming.

10 Sporadic vs. Familial Cancer Sporadic = Mutation-driven ONCOGENES TUMOR SUPPRESSORS Cell growth and proliferation Gene mutation (EX: BRCA1/2) “Loss of heterozygosity” Familial = Inherited mutation + “loss of heterozygosity”

OUTLINE: Types of Breast Cancer Breast Cancer Risk Factors BRCA1/2 (Mutations, Treatment) Cancer-Related Careers 11

12 BRCA1/2-Associated Risks Lifetime risk for these cancers in individuals with a mutation in BRCA1 or BRCA2: Breast Cancer = 45-85% Ovarian Cancer = 20-40% Male Breast Cancer = 1-10% (Higher with BRCA2) *Also higher risk for prostate, pancreatic cancer

13 Breast Cancer 1 and Breast Cancer 2 (BRCA1/2) What are BRCA1 and BRCA2 and what do they normally do for the cell? BRCA1 and BRCA2 are enzymes that repair DNA damage “Caretakers” of the genome DNA with repair enzymes

14 Testing for BRCA1/2 Mutations How can you test to see if someone has mutations in a gene such as BRCA1 or BRCA2? Full sequence analysis Analyze for known familial mutation Analyze for common mutations Short tandem repeat analysis

15 Treatment Options for BRCA1/2 mutated Breast Cancer Preventative (Prophylactic) Surgery: Mastectomy Oophorectomy Salpingo-oophorectomy Surgeries reduce the risk of Breast Cancer and Ovarian Cancer 50-90% 80-90% of BRCA1 mutated Breast Cancers are ER-/PR-/HER2- 80% of BRCA2 mutated Breast Cancers are ER+/PR+/HER2-

16 Treatment Options for BRCA1/2 mutated Breast Cancer 80-90% of BRCA1 mutated Breast Cancers are ER-/PR-/HER2- 80% of BRCA2 mutated Breast Cancers are ER+/PR+/HER2- What about nutrition, physical activity, and/or hormonal treatments?

OUTLINE: Types of Breast Cancer Breast Cancer Risk Factors BRCA1/2 (Mutations, Treatment) Cancer-Related Careers 17

18 Cancer-Related Careers What types of jobs are involved in the process? (Think prevention/testing  treatment) Genetic Testing – Nurse, Doctor Extract DNA from blood, mutation analysis – Lab Technician Counseling after test results – Genetic Counselors Preventative surgery – Nurse, Surgeon Identify therapeutic targets, develop therapies– Researcher Diagnosis and treatment – Nurse, Oncologist

Types of Breast Cancer Breast Cancer Risk Factors BRCA1/2 (Mutations, Treatment) Cancer-Related Careers QUESTIONS? 19

1.Citations on the slides (not one at the end) 2.Animations/transitions that support the talk, not distract from it 3.Images say more than words, and don’t be afraid to make your own! 4.It’s okay to have some slides with only words, but help us visually organize those words (bullet points, color, etc.) 5.Give us an outline slide at the beginning and refer to it throughout the talk 6.Start with a general intro/overview 7.End with a one-slide summary of the talk 8.Number your slides 20