New breast cancer gene discovered

By Rachael Rettner
MyHealthNewsDaily

Scientists have identified a new gene that may increase the risk of breast cancer, according to a new study from Finland.

In the study, mutations in this gene, called Abraxas,were linked to cases of hereditary breast cancer.

Researchers have now identified more than 10 genes that increase breast cancer risk; perhaps the most well-known of these are the BRCA1 and BRCA2 genes. But only about 20 percent of women with a family history of breast cancer have mutations in BRAC1 or BRAC2 — meaning in many cases, it's likely other genes are at work.

The mutation does not appear to be common — it was found in 2.4 percent of families with a history of breast cancer. But importantly, the mutation was not found in anyone without breast cancer in the study.

Because the study was conducted in Finland, future studies will need to investigate how common the mutation is in other countries, said study researcher Roger Greenberg, an associate professor of cancer biology at the University of Pennsylvania School of Medicine.

In the future, women with a family history of breast cancer might be tested for the Abraxas mutation, Greenberg said.

Greenberg and colleagues found the Abraxas mutation in three of 125 breast cancer patients from families with a history of the condition. This gene had been suspected to play a role in breast cancer risk because it interacts with BRCA1.

When the researchers looked at an additional 991 breast cancer patients, they found the Abraxas mutation in one woman, who also turned out to have breast cancer in her family. None of the 868 healthy patients in the study had the Abraxas mutation.

The mutated Abraxas gene prevents cells from fixing damaged DNA, increasing the risk that a cell will become cancerous. The gene may increase the risk of other cancers as well. Indeed, one patient in the study was diagnosed with both breast and endometrial cancer, and some patients with the Abraxas mutation had family members with lung cancer, lip cancer and lymphoma.

More research is needed to know exactly how much of an increase in breast cancer risk the Abraxas mutation brings. But Greenberg noted women in the study with this mutation were diagnosed around the same age as those with BRCA1 and BRCA2 mutations — in their mid-40s.

Women with a mutation in BRCA1 or BRCA2 are about five times more likely to develop breast cancer in their lifetimes compared with women who do not have this mutation, according to the National Cancer Institute.

"Identifying more of these mutations will make it easier for patients to know their risk of developing breast cancer," said Dr. Kristin Byrne, chief of breast imaging at Lenox Hill Hospital in New York City, who was not involved in the study. Such genetic information may even help doctors better diagnose breast cancer. Most patients with the Abraxas mutation in the study had a type of breast cancer called lobular carcinoma, which is harder to detect on a mammogram. Knowing that a patient has this mutation might mean doctors use additional screening methods, such as MRI, Byrne said.

The study is published today (Feb. 22) in the journal Science Translational Medicine.

Follow MyHealthNewsDaily staff writer Rachael Rettner on Twitter@RachaelRettner.

Discuss this post

throw it on the pile.

    Reply#1 - Wed Feb 22, 2012 3:55 PM EST

    So if we know the identity of a particular gene which causes a particular set of symptoms, what then?

    I've never understood how we can block the expression of any particular gene.

    What are we going to do with this information?

      Reply#2 - Wed Feb 22, 2012 5:03 PM EST

      Maintain extra vigilance. Do regular breast exams and see your physician at recommended intervals. The article also recommends MRIs as this type of breast cancer is harder to detect on a mammogram. It should be noted that men, especially those with a susceptibility gene, can get breast cancer. Some breast cancer genes also cause increased occurrence of other types of cancer in both women and men. These cancer susceptibility genes can be passed from father to daughter or son and not just from mother to daughter so a history of breast cancer in the father’s family is worth evaluation. I hope this helps.

        #2.1 - Wed Feb 22, 2012 8:03 PM EST

        One more thing. Cancer treatment is usually much more successful and there are more options when the cancer is caught early.

          #2.2 - Wed Feb 22, 2012 8:12 PM EST
          Reply

          But only about 20 percent of women with a family history of breast cancer have mutations in BRAC1 or BRAC2

          There is no BRAC1 or BRAC2. How do you mistype this when you've just typed out the correct gene above it?

          • 1 vote
          Reply#3 - Wed Feb 22, 2012 5:24 PM EST

          In the mean time scientists in canda found a cure for cancer, but it was not promoted due to the big money involved in the pharmaceutical field

            Reply#4 - Fri Feb 24, 2012 12:05 AM EST
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