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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
 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
6
5
4
Series 1
3
Series 2
Series 3
2
1
0
Category 1
Category 2
Category 3
Category 4
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