Geonomics in Breast Cancer Decoding Human Genome Luis Barreras, M.D., FACP

Breast Cancer Figures 1 in 8 women will develop breast cancer in their lifetime 1 in 8 women will develop breast cancer in their lifetime 180,000 women and 2,000 men yearly will develop breast cancer 180,000 women and 2,000 men yearly will develop breast cancer Over 40,000 women and men will die from breast cancer in 2009 Over 40,000 women and men will die from breast cancer in % of breast cancer cases occur in women over the age of 50 77% of breast cancer cases occur in women over the age of 50 Mortality rates have decreased by 3% annually since 1990 Mortality rates have decreased by 3% annually since 1990

Stages of Breast Cancer Tumor size Tumor size Nodal status Nodal status Metastasis Metastasis

Genetics While genetics influence breast cancer, only 5–10% of cancers are genetically recognized While genetics influence breast cancer, only 5–10% of cancers are genetically recognized Genomic tolls focus on the genetic makeup of cancer cells Genomic tolls focus on the genetic makeup of cancer cells These expressions of genes can be traced to specific cancers and their behaviors These expressions of genes can be traced to specific cancers and their behaviors

BRCA 1 & 2 (Breast Cancer tests for genes) Studies reveal a 60% increase in breast and ovarian cancers, lifetime risks Studies reveal a 60% increase in breast and ovarian cancers, lifetime risks Whereas in the general population, there is only 12% lifetime risk Whereas in the general population, there is only 12% lifetime risk

Genomic Test Gene expression testing Gene expression testing % of recurrence % of recurrence Benefits of treatment Benefits of treatment

Marker in Breast Cancer ER/PR ER/PR HER-2 HER-2 Proliferation Proliferation 21 – Gene Assay 21 – Gene Assay

Response to Therapy by Gene Expression Testing

Patient Case #1 39 year old with large tumor in breast, no lymph nodes, ER+, HER-2 neg. 39 year old with large tumor in breast, no lymph nodes, ER+, HER-2 neg. Treatment prior to gene expression studies – Chemotherapy Treatment prior to gene expression studies – Chemotherapy 21 gene panel – low risk 21 gene panel – low risk Treatment after gene expression studies - Hormonal Treatment after gene expression studies - Hormonal

Patient Case #2 60 year old with small tumor in breast, ER +, node negative, HER-2 neg. 60 year old with small tumor in breast, ER +, node negative, HER-2 neg. Treatment prior to gene expression studies – Hormonal Treatment prior to gene expression studies – Hormonal 21 – gene panel – high risk 21 – gene panel – high risk Treatment after gene expression studies – Chemotherapy and Hormonal Treatment after gene expression studies – Chemotherapy and Hormonal