Breast Cancer_ a Genetic Disease

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The Charles B. Huggins Lectures, 2006 “Breast Cancer: the Genetics of a Disease” James D. Fackenthal, Ph.D. University of Chicago Dr. Charles B. Huggins (1901-1997) University of Chicago School of Medicine • Instructor, 1927-1929 • Director and Founder of the Ben May Institute, 19511971 • William B. Ogden Distinguished Professor, 1962-1997 Dr. Charles B. Huggins (1901-1997) "What is cancer research? It is fundamental science," Huggins said in 1966. "Everything is cancer research. It is not necessary to have cancer cells on one's hands to advance the cure of cancer. Cancer research is basic science-honestly done with simplicity and elegance and proof.” “Discovery is our business” The Charles B. Huggins Lectures, 2006 Saturdays from 11:00 AM – 12:00 PM Jan 14. Overview and introduction to cancer Jan 21. Early experiments in genetics: the science of heredity Jan 28. Later experiments in genetics: the science of molecular biology Feb 11. Gene mutations and cancer, part 1: oncogenes and tumor suppressor genes regulate tumor development Feb 18. Gene mutations and cancer, part 2: hormone action in normal cells and breast tumors Feb 4. The DNA double helix: structural basis of heredity and molecular biology Feb 25. Genetic studies point the way to better treatments March 4. From Genetics to Genomics. Resources Jim Fackenthal: jfackent@medicine.bsd.uchicago.edu The Ben May Institute for Cancer Research: http://ben-may.bsd.uchicago.edu Resources National Cancer Institute: http://www.nci.gov Resources National Cancer Institute: http://www.nci.gov Resources National Cancer Institute: http://www.cancer.gov Resources American Cancer Society: http://www.cancer.org Resources University of Chicago Hospitals: http://www.uchospitals.edu Cancer burden in the U.S. • Over 1.3 million Americans were probably diagnosed with cancer in 2005. • Over 570, 000 people died of cancer last year (over 1, 500 people per day). • In the US, cancer causes 1 out of every 4 deaths. American Cancer Society “Cancer Facts and Figures,” 2005 How much cancer is preventable? In 2005, there were over 175, 000 cancer deaths caused by tobacco. They were all preventable. • In 2005, there were over 570, 000 cancer deaths associated with physical inactivity, poor diet, or being overweight/obese. Roughly one-third of these were preventable. • How much cancer is preventable? Many cancers are related to infectious agents (hepatitis B virus , human papillomavirus, human immunodeficiency virus, helicobacter, etc.). Many can be prevented with vaccines, antibiotics, or behavioral changes. • Each year over 1, 000, 000 skin cancers are diagnosed. Many could be prevented by protection from the sun. American Cancer Society “Cancer Facts and Figures,” 2004 • Est. cancers in the U.S.A. 2004 Site Prostate Breast Lung Colon 730 New Cases 2004 230, 110 217, 440 173, 770 106, 370 Deaths 29, 900 40, 580 160, 440 56, American Cancer Society “Cancer Facts and Figures 2004” Change in the US Death Rates* by Cause, 1950 & 2002 Rate Per 100,000 600 586.8 1950 500 2002 400 300 240.1 200 180.7 193.9 193.4 100 56.0 0 48.1 22.5 Heart Diseases Cerebrovascular Diseases Pneumonia/ Influenza Cancer * Age-adjusted to 2000 US standard population. Sources: 1950 Mortality Data - CDC/NCHS, NVSS, Mortality Revised. 2002 Mortality Data: US Mortality Public Use Data Tape, 2002, NCHS, Centers for Disease Control and Prevention, 2004 Breast Cancer: frequency and mortality • in 2005. • • Nearly one-third of all cancers in women. In 2005, over 40, 000 projected breast cancer deaths. Second highest cause of cancer among women. The most commonly diagnosed cancer women. • 211, 240 new cases projected in • deaths American Cancer Society “Breast Cancer Facts and Figures,” What is cancer? • Cancer is a group of over 100 diseases characterized by abnormal cells dividing excessively (proliferating). • Cancer cell proliferation results in solid tumors or blood malignancies. • These interfere with the vital functions of the tissues where they occur, or the tissues to which they spread (metastasize). Definitions: • Genetics: the science of genes, heredity, and variations in organisms. • Gene: a unit of heredity. The Cell Nucleus Nuclear membrane Cytoplasm Cell membrane Cell Division Nucleus From Molecular Biology of the Cell by Alberts et al. (4th ed) Garland Science Textbooks, New York, NY c2002 Epithelial cells An epithelium is a tissue composed of cells. Sometimes an epithelium can fold into a tube which may serve as a duct. From Molecular Biology of the Cell by Alberts et al. (4th ed) Garland Science Textbooks, New York, NY c2002 Normal Breast Anatomy Atlas of Breast Cancer, 2nd 2000. Hayes, ed. Cell Proliferation in Breast Cancer Atlas of Breast Cancer, 2nd 2000. Hayes, ed. Lobular carcinoma in situ Dr. Susan Love’s Breast Book, 2005. S. Love Ductal carcinoma in situ Dr. Susan Love’s Breast Book, 2005. S. Love Does in situ disease become invasive disease? Dr. Susan Love’s Breast Book, 2005. S. Love Breast Cancer Staging TNM: tumor, nodal involvement, metastasis Tx: tumor can’t be measured or found. T0: no evidence of primary tumor. Tis: tumor is in situ. T1-4: describes the size and extent of invasion of the tumor. Breast Cancer Staging TNM: tumor, nodal involvement, metastasis Nx: nearby lymph nodes can’t be measured or found. N0: nearby lymph nodes do not contain cancer. N1-3: describes the size, number, and location of involved lymph nodes. Breast Cancer Staging TNM: tumor, nodal involvement, metastasis Mx: metastasis can’t be measured or found. M0: no known distant metastases. M1: Metastasis is present. Breast Cancer Grade The grade is an overall description of the stages (I-IV). T1, N0, M0: Stage I T4, N3, M1: Stage IV Breast Cancer Dr. Susan Love’s Breast Book, 2005. S. Love Breast Cancer Atlas of Breast Cancer, 2nd 2000. Hayes, ed. Major Points • Cancer is a disease caused by excessive division (proliferation) of abnormal cells. • Tumor development is characterized by a series of series of genetic changes (or changes in the genetic material) in the affected cell.

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