Geonomics in Breast CancerDecoding Human Genome

Luis Barreras, M.D., FACP

Breast Cancer Figures

1 in 8 women will develop breast cancer in their lifetime

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

77% of breast cancer cases occur in women over the age of 50

Mortality rates have decreased by 3% annually since 1990

Stages of Breast Cancer

Tumor size

Nodal status

Metastasis

Genetics

While genetics influence breast cancer, only 5–10% of cancers are genetically recognized

Genomic tolls focus on the genetic makeup of cancer cells

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

Whereas in the general population, there is only 12% lifetime risk

Genomic Test

Gene expression testing

% of recurrence

Benefits of treatment

Marker in Breast Cancer

ER/PR

HER-2

Proliferation

21 – Gene Assay

Response to Therapy by Gene Expression Testing

Category 1 Category 2 Category 3 Category 40

1

2

3

4

5

6

Series 1Series 2Series 3

Patient Case #1

39 year old with large tumor in breast, no lymph nodes, ER+, HER-2 neg.

Treatment prior to gene expression studies – Chemotherapy

21 gene panel – low risk

Treatment after gene expression studies - Hormonal

Patient Case #2

60 year old with small tumor in breast, ER +, node negative, HER-2 neg.

Treatment prior to gene expression studies – Hormonal

21 – gene panel – high risk

Treatment after gene expression studies – Chemotherapy and Hormonal