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Breast Cancer: BRCA1/2

Erin HayesFoundations of Medicine

Blue Valley CAPSOctober 28, 2015

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OUTLINE:

Types of Breast CancerBreast Cancer Risk Factors

BRCA1/2 (Mutations, Treatment)Cancer-Related Careers

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OUTLINE:

Types of Breast CancerBreast Cancer Risk Factors

BRCA1/2 (Mutations, Treatment)Cancer-Related Careers

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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

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Types of Breast Cancer

Cell Proliferation and Growth!

Binds ER Binds PR Binds HER2

nationalbreastcancer.org

EPIDERMAL GROWTH FACTOR

Three bodily chemicals that fuel cancer growth:

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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

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OUTLINE:

Types of Breast CancerBreast Cancer Risk Factors

BRCA1/2 (Mutations, Treatment)Cancer-Related Careers

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Breast Cancer Risk Factors

nationalbreastcancer.org

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Sporadic vs. Familial Cancer

Sporadic = Mutation-drivenFamilial = 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.

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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”

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OUTLINE:

Types of Breast CancerBreast Cancer Risk Factors

BRCA1/2 (Mutations, Treatment)Cancer-Related Careers

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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

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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

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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

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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 areER-/PR-/HER2-

80% of BRCA2 mutated Breast Cancers areER+/PR+/HER2-

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Treatment Options for BRCA1/2 mutated Breast Cancer

80-90% of BRCA1 mutated Breast Cancers areER-/PR-/HER2-

80% of BRCA2 mutated Breast Cancers areER+/PR+/HER2-

What about nutrition, physical activity, and/or hormonal treatments?

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OUTLINE:

Types of Breast CancerBreast Cancer Risk Factors

BRCA1/2 (Mutations, Treatment)Cancer-Related Careers

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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

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Types of Breast CancerBreast Cancer Risk Factors

BRCA1/2 (Mutations, Treatment)Cancer-Related Careers

QUESTIONS?

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