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Genetic and Molecular Epidemiology

Genetic and Molecular Epidemiology. Bio364 Special Thanks to Emily Chen, Ph.D. Department Of Pharmacological Sciences. Lecture . Breast Cancer Statistics Breast Cancer Subtypes & Potential Risk Factors Breast Cancer Susceptibility Genes Breast Cancer Prognosis.

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Genetic and Molecular Epidemiology

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  1. Genetic and Molecular Epidemiology Bio364 Special Thanks to Emily Chen, Ph.D. Department Of Pharmacological Sciences

  2. Lecture • Breast Cancer Statistics • Breast Cancer Subtypes & Potential Risk Factors • Breast Cancer Susceptibility Genes • Breast Cancer Prognosis

  3. 2011 ESTIMATED US CANCER DEATHS * Cancer Statistics 2011, American Cancer Society

  4. FEMALE BREAST CANCER INCIDENCE RATES* BY RACE & ETHNICITY, US, 1975-2007 *Rates are age-adjusted to the 2000 US standard population Data source: Surveillance, Epidemiology, and End Results (SEER) Program, 1975-2007, Division of Cancer Control and Population Science, National Cancer Institute, 2011. Data for whites and blacks are from the SEER 9 registries. Data for other race/ethnicities are from the SEER13 registries.

  5. Lecture • Breast Cancer Statistics • Breast Cancer Subtypes & Potential Risk Factors • Breast Cancer Susceptibility Genes • Breast Cancer Prognosis

  6. PROGRESSION OF BREAST CANCER • Histologic Subtypes By Percentage Of Cases • Infiltrating ductal carcinoma (IDC): the most commonly diagnosed breast tumor; metastatic (lymphatics); account for 75% of breast cancers • Ductal carcinoma in situ (DCIS): most common type of non-invasive breast cancer • Lobular carcinoma in situ (LCIS): 2.8 per 100,000 women; high incidence in women aged 40-50 years • Infiltrating lobular carcinoma (ILC): <15% of invasive breast cancers • Medullary carcinoma: ~ 5% ; generally occurs in younger women • Mucinous (colloid) carcinom: <5% of invasive breast cancer cases • Papillary carcinoma: older women (>60 years); 1-2% of all breast cancers • Metaplastic breast cancer: <1% ; older women (>60 years); higher incidence in African American Women

  7. INTRINSIC SUBTYPES OF BREAST CANCER • HER2+ (ER-) • Less common, highly aggressive subtype • High grade histology • Risk at young age (<40) greater than luminal subtypes • African American ethnicity maybe a risk factor • Outcome improved with HER2 • Basal-Like (Triple Negative, cytokeratin 5/6+ &/or EGFR+) • Aggressive subtype • High grade histology, and high mitotic rate • Risk at younger age (<40) • More likely preenopausal African American Women • Luminal B • (ER+ &/or PR+, HER+) • Similar to Luminal A • More frequently ER+/PR- • Worse outcome than Luminal A • Luminal A • (ER+ &/or PR+, HER-) • Most common subtype • Less aggressive • Lower histological grade • Good prognosis • Hormone responsive • Associated with increasing age

  8. ESTABLISHED RISK FACTORS FOR BREAST CANCER Table Source: American Cancer Society. Breast Cancer Facts & Figures 2009-2010. Atlanta.

  9. DNA EXONS INTRONS Transcription Start site PROMOTER Translation start site Stop codon RNA ANATOMY OF A GENE

  10. GENETIC LINKS TO BREAST CANCER Epidemiologic studies have clearly established the role of family history as an important risk factor for both breast and ovarian cancer. The search for genes associated with hereditary susceptibility to breast cancer has been facilitated by studies of large kindreds with multiple affected individuals, and has led to the identification of several susceptibility genes Penetrance of Mutations - Estimates of penetrance by age 70 years for BRCA1 and BRCA2 mutations show a large range, from 40% to 87% for breast cancer

  11. FOR YOUR INFORMATION ONLY, THIS WILL NOT BE ON THE EXAMSUMMARY OF SIX BREAST CANCER SUSCEPTIBILITY GENES From Thompson & Easton. 2004. J Mammary Gland Biol Neoplasia 9:221.

  12. FOR YOUR INFORMATION ONLY, THIS WILL NOT BE ON THE EXAMBREAST CANCER METASTASIS – TISSUE TROPISM Cell 127, November 17, 2006

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