In a new genetic study, researchers said they may have found a way to cut the cost of genetic screening for breast and ovarian cancers from $3000 to $400.

Three teams of infertility scientists in New York and Austria collaborated to study gene mutations that increase a woman's likelihood of breast and ovarian cancers. In the process, they made a discovery that could reduce to the cost of breast and ovarian cancer screening, making diagnosis more widely available to women in need.

The study, which was recently published in the PLoS ONE1 medical journal, examined the genetic variables in woman who were known carriers of the mutated breast and ovarian cancer susceptibility gene BRCA1/2. Women without BRCA 1/2 mutations have a lifetime risk f 12 percent for breast and 1.4 percent for ovarian cancers. However, with a BRCA 1/2 mutation, the risk for breast cancer increases to 60 percent and for ovarian cancer to between 15 and 40 percent.

Researchers from the Center for Human Reproduction (CHR) in New York, the Medical University Vienna in Vienna, Austria, and the Medical University Graz in Graz, Austria worked on the study.

Together they found nearly all of the 99 subjects who were carriers of the BRCA1/2 mutations also had a very specific genotype known as "low" FMR1. In contrast, over 300 control subjects, who were not carriers of the mutated BRCA1/2 gene, showed normal distribution of the FMR1 genotypes with only about 25% of the subjects having the "low" FMR1.

The authors concluded that because BRCA1/2 mutations are almost exclusively found in women with low FMR1, women without the low FMR1 genotype would not be at risk for BRCA1/2 mutations and, therefore, associated breast and ovarian cancer risks.

Researchers found the link between the genotype and these specific cancer risks suggests that less expensive FMR1 gene testing could be used in place of the current method of the costly BRCA1/2 screening for these cancer risks.

"We were very surprised by these results," said David H. Barad, MD, MS, Director of Clinical ART and Senior Scientist at CHR, a senior author of the study. "This observation, if confirmed, can greatly impact current cancer screening methods for BRCA1/2-associated cancers in women, and greatly reduce costs."

At the moment, the only available genetic screening for breast and ovarian cancers is through the testing of the BRCA1/2 gene, but since the procedure requires extremely high costs - about $3,000 - testing is only recommended for women with a strong family history of these cancers. FMR1 testing, on the other hand, is available for as little as $400.

The finding is especially important, as recent research has shown females with a BRCA gene mutation today are being diagnosed with breast and ovarian cancer about eight years earlier than their mothers or aunts were.

University of Texas researchers at the MD Anderson Cancer Center identified 132 women with the BRCA 1/2 genes who also had breast cancer. Of the 132, they 106 had a mother or aunt who was also diagnosed with BRCA-related breast or ovarian cancer, and the researchers recorded the female's age at the time of diagnosis. In the end, they saw a 7.9 year age difference between the generations - finding that may change the screening and genetic counseling for women with BRCA genes in the future.

CHR and Austrian researchers hope their findings will help explain the mystery of the "BRCA-paradox," which has puzzled scientists for years. This paradox refers to the fact that BRCA1/2 mutation prevents cell growth and replication in embryonic tissue - making it lethal to a growing human embryo. However, in cancerous tissues, these mutations have exactly the opposite effect, allowing cancer cells to proliferate.

"Confirmed, these findings could mean that 'low' FMR1 alleles de-suppress the anti-proliferative activity of BRCA1/2 in both tissues, in embryonic tissues allowing the embryo to survive, while in cancers having the negative effect of allowing cancer to proliferate," said Norbert Gleicher, MD, Medical Director and Chief Scientist of CHR, and another senior author of the study. "This, of course, could open major therapeutic options for improving embryo growth and inhibiting cancer growth."

Written by Diego Cupelo