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BRCA Mutations and Breast Cancer

BRCA Mutations and Breast Cancer. Ruth Phillips and Patty Ashby. Breast Cancer . Most common cancer in women Second cause of cancer death in women Rates in men???. BRCA1 and BRCA2 are Oncogenes. Cancer is caused by mutations in specific oncogenes.

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BRCA Mutations and Breast Cancer

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  1. BRCA Mutations and Breast Cancer Ruth Phillips and Patty Ashby

  2. Breast Cancer • Most common cancer in women • Second cause of cancer death in women • Rates in men???

  3. BRCA1 and BRCA2 are Oncogenes • Cancer is caused by mutations in specific oncogenes. • Mutations in oncogenes change normal cells into cancer cells. • BRCA1 and BRCA2 are recessive oncogenes.

  4. Sporadic vs Inherited Breast Cancer • Usually breast cancer is the result of sporadic mutations but about 5% of cancer patient inherit a gene mutation which predisposes them to cancer. • Tumors develop when a second mutation occurs to make the individual homozygous for the mutation. This is called loss of heterozygosity (LOH).

  5. Increased risk for Carriers of BRCA1 and BRCA2 • Carriers for mutations in these two genes account for: • 50% of all early-onset cases • Increased risk for ovarian cancer in women and breast cancer in men • In families with known cases, risk of developing breast cancer is 80% by age 70

  6. Two Types of Recessive Oncogenes These genes function as tumor suppressors in normal cells • Gatekeepers – regulate cell growth • Caretakers – repair DNA damage

  7. BRCA1 and BRCA2 • Both are caretaker genes • Code for two different proteins involved in DNA repair • Large genes with 24 – 27 exons • Mutations are found throughout the genes with 900 different mutations for each gene

  8. Pictures of 3D Structure of Normal and Mutations

  9. BRCA1 and BRCA2 • Cancer risk is influenced by type of mutation, modifier genes, and environmental and hormonal cofactors • The risk of developing cancer is not identical for all carriers of BRCA1 and BRCA2 mutations. • Likewise, the effectiveness of different cancer therapies might vary with the type of BRCA1 or BRCA2 mutation.

  10. Can genetic information be used to: • predict the best type of therapy for a breast cancer patient? • develop new individual-based therapies?

  11. Student Project Sequences from women from two ethnic groups with inherited breast cancer are provided: includes BRCA1 and BRAC2 mutations, and one normal sequence. Question 1: Compare sequences and look for patterns among the sequences Question 2: Can you identify mutations that might be causing the disease?

  12. Results of CLUSTALW Patient 7 Patient 3 Patient 1 Patient 4 Patient 6 Patient 5 Patient 2 Patient 9 Patient 8

  13. Results of CLUSTALW BRCA2 BRCA2 BRCA2 BRCA1 BRCA1 BRCA1 BRCA1 BRCA2 BRCA2

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