Scripps Starts Genomics Study of Breast Cancer Variants

By a GenomeWeb staff reporter

NEW YORK (GenomeWeb news) – Scripps Genomic Medicine will work with Scripps Memorial Hospital La Jolla to conduct genomic studies of women for known variants of breast cancer in order to correlate the presence of variants with diagnosis of the disease, Scripps Genomic Medicine said.

The PINK study, which is funded by the Scripps Research Institute, aims to enroll 3,500 women who are receiving screenings at the Scripps Polster Breast Care Center who have had at least five years of breast imaging records available, and who will undergo a DNA analysis.

The study will be focused on common variants because they are present in large numbers, as much as 20 percent to 30 percent of the population, and they “can have a significant impact on public health,” Scripps said.

These are variants that women could potentially carry although they have no family history of breast cancer, and they could be used to divide healthy women into three different categories for breast cancer screening.

“During the past two years alone we’ve seen the discovery of about a dozen common DNA variants strongly associated with increased risk for breast cancer, but there hasn’t been a study yet to see just how specific and sensitive these markers are to predict breast cancer,” Scripps Genomic Medicine’s Director of Genetics, Sarah Murray, said in a statement.

“We want to see if we can take these advances and translate them into better health outcomes for patients,” she said.

Under a new risk strata that is based on such variants, women who have a lifetime risk of more than 20 percent would be more carefully screened than women who have a lifetime risk of between 10 and 20 percent, who would follow the existing guidelines of an annual mammography. And women with a “substantially lower-than-average” lifetime risk might be advised to have mammography exams less than once per year.

The PINK study will not target high-risk variants such as BRCA-1 and BRCA-2, because, “We’ve known for many years that family history is a very strong predictor,” said Murray.


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