AsianScientist (Sep. 29, 2014) – Researchers at the QIMR Berghofer Medical Research Institute in Australia have determined how a single DNA variant can increase a woman’s risk of developing breast cancer. The findings have been published online in Nature Communications.
Dr. Stacey Edwards from QIMR Berghofer’s Functional Cancer Genomics team, who is an author of the study, says that the research could provide future opportunities for early intervention to stop breast tumors developing.
“It has long been thought that the insulin-like growth factor pathway (IGF) would be important in cancer development, but its exact role has been unclear,” Dr. Edwards said. “We have been able to show that women with a specific DNA variant that reduces their levels of a specific protein (IGFBP5) in this pathway are at increased risk of developing breast cancer.”
The identified variant, rs4442975, is associated with estrogen receptor positive (ER+) breast cancer, where estrogen receptors are over-expressed. This category comprises around 70 percent of breast cancer cases.
The work at QIMR Berghofer’s Herston laboratories drew on an international study comparing the DNA of 50,000 breast cancer patients to 50,000 women without the disease.
The research is part of an international collaboration identifying regions of the genome that can increase a person’s risk of breast, prostate and ovarian cancer. The world-wide study has identified 120 single changes in DNA between the two groups.
“Of the 120 variants in women with breast cancer, so far we have finished analyzing and understanding six of them. Each variant can take up to two years to fully characterize, so we have a long way to go before the 120 are completed,” added Dr. Edwards.
The researchers hope that a new targeted drug, one that would prevent breast tumor development, could be developed from the most recent findings.
Dr. Edwards also suggests that the results could be used in future genetic tests to identify women likely to be at the highest risk of developing the disease.
The article can be found at: Ghoussaini et al. (2014) Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation.
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Source: QIMR Berghofer Medical Research Institute.
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