Study: Gene Variation May Predict Breast Cancer, Aid In Future Genetic Testing


Dr. Virginia Kaklamani, an oncologist at Northwestern Memorial Hospital, may have found a gene variation that could predict a risk of breast cancer in women with no previous family history of the disease.  According to her research, at the cellular level, women may be born with different characteristics in the adiponectin gene that could alter its function and increase the risk of breast cancer. Here, Kaklamani talks about her research and how it could affect future genetic testing for breast cancer.

Dr. Virginia KaklamaniDr. Virginia KaklamaniQ. What is the adiponectin gene?

Kaklamani: It is a protein that regulates metabolic processes, including body fat and body weight.

Q. Based on your research, how is the gene linked to breast cancer?

Kaklamani: The adiponectin gene is linked with cancer through several mechanisms. First of all it interacts with insulin, which has been shown to increase breast cancer risk. Second, it regulates body fat and we know that obesity is directly associated with breast cancer. Third, the adiponectin gene interferes with TNF-a (tumor necrosis factor), which also is related to breast cancer.

Q. Can a woman pass this gene down to her children and put them at risk for breast cancer?

Kaklamani: Yes, these are genes that both men and women can pass on to their children and therefore cause them to have a higher risk for breast cancer.

Q. In finding this particular gene, what do you hope will come of your research?

Kaklamani: By finding that certain changes in the gene increase the risk for breast cancer, we will be able to identify women who are at high risk and offer them better screening methods to detect the breast cancer early. Also, we may be able to start therapy with the protein adiponectin to lower their risk of getting breast cancer.

Q. Does everyone have the adiponectin gene?

Kaklamani: Everyone has the adiponectin gene but it doesn't work exactly at the same level in everyone. Depending on the gene changes in some people, the gene produces lower levels of adiponectin and therefore these women are at higher risk for breast cancer.

Q. How many women diagnosed with breast cancer each year do not have a familial history of the cancer?

Kaklamani: The majority of breast cancers, around 70 percent, are diagnosed in women without a family history of the disease.

Q. How far in the future can we see adiponectin added to the two other genes that have been linked to breast cancer in genetic testing?

Kaklamani: The findings of our study need to be validated in larger studies -- we are in the process of doing this -- and once they are confirmed in the next couple of years we can incorporate the adiponectin gene into our model [for breast cancer].

Q. If adiponectin is linked to breast cancer, what then for women whose test results come back positive for genetic mutation of this gene?  What treatment options are available?

Kaklamani: If someone had low adiponectin levels due to the way the gene works, we could potentially treat them with adiponectin.

Dr. Kaklamani's research was published in the May 1 issue of Cancer Research. She is also an assistant professor of medicine at Northwestern's Feinberg School of Medicine.



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