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Genetics of Breast Cancer

Genetics of Breast Cancer. Autumn Gipson & Brianna Cantrell. Cancer Terminology . Type of Tumors. Benign tumours generally slow growing and enclosed in a fibrous capsule relatively harmless, although their location can make them serious (such as a tumour located in the brain)

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Genetics of Breast Cancer

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  1. Genetics of Breast Cancer Autumn Gipson & Brianna Cantrell

  2. Cancer Terminology

  3. Type of Tumors Benign tumours • generally slow growing and enclosed in a fibrous capsule • relatively harmless, although their location can make them serious (such as a tumour located in the brain) • not considered cancerous (they are not malignant) • given names that usually end in "oma" (although melanoma is a malignant skin cancer) Malignant tumours • grow rapidly, invading neighbouring tissues • can spread, to other sites of the body • named using the type of tissue, cell type, and origin

  4. Causes of Cancer • Cancer can be caused by 3 factors: • Gene Mutations • Ex: mutations in BRCA1 &BRCA2 which can lead to hereditary Breast & Ovarian Cancer • Environmental Factors • Ex: Tobacco, Radiation, Chemicals • Viruses • Ex: HPV – Cervical Cancer; Hepatitis B and C – linked to Liver Cancer

  5. Types of Genes Which May Mutate to Cause Cancer: • Oncogene: a gene that, when mutated, disposes normal cells to change into cancerous tumor cells • DNA Repair Genes: DNA damages in frequently dividing cells are a prominent cause of cancer because mutations are more likely to occur • p53 Gene: if damaged or mutated, tumor suppression is severely reduced

  6. Con’d. • Tumor Suppressor Gene: a gene that protects a cell from one step on to the path to cancer. When this gene is mutated, a loss or reduction in its function is caused, and the cell can progress to cancer

  7. Breast Cancer • Every woman has an 11% chance of developing breast cancer during her lifetime • Most cases of breast cancer are sporadic; only 5-10% of all breast cancer cases are hereditary

  8. Breast Cancer Cont’d. • The normal female breasts are paired structures that contain fat and glandular tissue designed to secrete milk. Cancer of the breast is one of the more common cancers in women. Risk factors: a family history of breast cancer, early age at first period, and late menopause.

  9. Breast Cancer At Work….

  10. The Result…

  11. BRCA1 & BRCA2 Gene • Are human genes belonging to a class of genes known as tumor suppressors. • These genes are linked to hereditary breast and ovarian cancer • The names BRCA1 and BRCA2 stand for breast cancer susceptibility gene 1 and breast cancer susceptibility gene 2

  12. BRCA1 Gene • The BRCA1 gene, when properly functioning, can help prevent breast cancer, but abnormal variations can significantly increase the risk of developing breast cancer. Females born with the affected gene face a 50-80 per cent risk of contacting breast cancer and a 40-60 per cent chance of developing ovarian cancer.

  13. BRCA1

  14. BRCA2 Gene • There are more than 800 mutations in the BRCA2 gene (Many associated with increased risk of breast cancer). • Many BRCA2 mutations insert or delete a small number of nucleotides in the gene, disrupting protein production • This results in an abnormally small, nonfunctional version of the BRCA2 protein. • Researchers believe that the defective BRCA2 protein is unable to help repair damaged DNA or fix mutations that occur in other genes. As these defects accumulate, they can allow cells to grow and divide uncontrollably and form a tumor.

  15. Ovarian Cancer At Its Worst…

  16. In Their Harmful State… • Harmful BRCA1 mutations may also increase a woman’s risk of developing cervical, uterine, pancreatic, and colon cancer. • Harmful BRCA2 mutations may additionally increase the risk of pancreatic cancer, stomach cancer, gallbladder and bile duct cancer, and melanoma.

  17. Here’s Some Good News.. • Even though these genes are genetic, not every woman who are in a family known for breast cancer and/or ovarian cancer carries a harmful BRCA1 or BRCA2 mutation • Not all breast cancers are due to harmful mutated genes • Additionally, not every woman who has a harmful BRCA1 or BRCA2 mutation will develop breast and/or ovarian cancer.

  18. It’s Not Only BRCA Genes.. • Mutations in several other genes, including TP53, PTEN, STK11/LKB1, CDH1, CHEK2, ATM, MLH1, and MSH2, have been associated with hereditary breast and/or ovarian tumors. • However, the majority of hereditary breast cancers can be accounted for by inherited mutations in BRCA1 and BRCA2

  19. Current Solutions If At Risk… • Surveillance • Prophylactic Surgery • Chemoprevention

  20. No Genetic Discrimination Allowed • Genetic discrimination occurs when people are treated differently by insurance companies or employers because they have a gene mutation that increases their risk of a disease, such as cancer. • However, in 2008, GINA was enacted to protect U.S. citizens against discrimination based on their genetic information in relation to health insurance and employment • The law does not cover life insurance, disability insurance, and long-term care insurance. In addition, the law does not cover members of the military.

  21. Looking Ahead… • Many research studies are being conducted to find newer and better ways of detecting, treating, and preventing cancer in BRCA1 and BRCA2 mutation carriers. Additional studies are focused on improving genetic counseling methods and outcomes. Our knowledge in these areas is evolving rapidly

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