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Breast cancer cluster linked to vitamin D receptor variant

A report published online on August 4, 2012 in the Journal of the American College of Surgeons reveals a possible factor behind the high rate of breast cancer that has been documented among women residing in Marin County, California. While previous research uncovered a greater intake of alcohol among Marins breast cancer patients, the current study, conducted by researchers at the University of California, San Francisco, found a genetic factor associated with the areas higher rate.

The study involved 338 Caucasian subjects who participated in the earlier research. One hundred sixty-four women who were diagnosed with primary breast cancer between 1997 and 1999 were age and ethnicity-matched with 174 controls. Frozen buccal cell samples were analyzed to determine which women were at high lifetime risk of breast cancer. The risk model, developed by InterGenetics, Inc, incorporated 22 variations in 19 genes and five clinical risk factors.

A genetic variation known as the vitamin D receptor (VDR) Apa1 A2/A2 homozygous polymorphism was found in 64 percent of the women at high risk of breast cancer in comparison with 34 percent of the overall population. "While the findings must be validated in a much larger, prospective study, we found that women who were at high risk for breast cancer were 1.9 times more likely to have a specific vitamin D receptor variation than the general population," reported lead researcher Kathie Dalessandri, MD, FACS, who is a surgeon scientist in Point Reyes Station, California.

"The high frequency of the VDR Apa1 A2/A2 homozygous polymorphism in women designated as elevated risk for breast cancer by the polyfactorial risk model might be related to the high incidence rates of breast cancer in Marin County, California," the authors conclude. "Vitamin D supplementation could modify risk of breast cancer in this population."