imageScanning electron microscope image of breast cancer cell

Individualizing breast cancer screening through genetic profiling

While a dozen commonly occurring DNA variants are now known to be strongly associated with an increased risk for breast cancer, physicians don’t yet understand these markers’ specificity and sensitivity in predicting a woman’s lifetime risk for developing the disease.

To expedite the translation of these genomic studies to breast cancer prevention and treatment, Scripps Translational Science Institute (STSI) researchers are conducting a study to correlate the relationships between the presence of these common alterations in the human DNA code and breast cancer screening. STSI’s partner in the project, dubbed the PINK (for Polster InvestigatioNal genebanK) study, is the Scripps Polster Breast Care Center at Scripps Memorial Hospital La Jolla.

The PINK study is the first to investigate how predictive the 12 common and highly significant genetic variants are for breast cancer, either by themselves or in combination.

Each of the variants targeted by PINK are present in approximately 20 to 30% of the total population, and many woman who carry these risk alleles may not necessarily have a family history of breast cancer. If these markers can more accurately predict a woman’s risk for breast cancer above and beyond current methods for estimating risk, this information can be used to help insure that those women who are at the higher risk undergo more sensitive breast imaging.

Scripps Polster Breast Care Center patients who have volunteered for the PINK study included women who had breast cancer as well as those without a personal and/or family history of the disease. In addition to one blood sample, each woman provided her medical records for confidential review.

Results of the PINK study may help pave the way for a more individualized approach to breast cancer screenings, by making each woman’s genetic make-up a key factor in guiding how often they undergo mammography.