Medical Device Daily Correspondent
LONDON — Almost three of four women of European descent have a gene variant that increases their risk of breast cancer by a very small amount. The rest have a variant of the same gene that reduces their risk of breast cancer by 10% or more.
Ultimately, understanding how the protein product of the gene concerned — which is known as CASP8 — affects the development of breast cancer could lead to new treatments for the disease.
More immediately, the discovery brings closer the day when physicians will be able to offer all women a genetic screen that will provide personalized predictions of their risk of breast cancer.
Michael Stratton, a member of the Breast Cancer Association Consortium from the Institute of Cancer Research in Sutton, UK, told Medical Device Daily's sister publication BioWorld International: "This is the first discovery of one of the common variants that causes a small increase in breast cancer susceptibility. There have been many reports of such variants in the past, which have turned out to be incorrect, but the size of this study allows us to be certain that this is a real effect."
Stratton explained that although the additional risk associated with inheritance of the common variant of CASP8 is small, because it is so common, it will account for many cases of breast cancer worldwide.
"As a result, if we could find a way of somehow interfering with this susceptibility allele, then this might have some effect on breast cancer incidence," he said.
Paul Pharaoh, also a member of the consortium and a senior clinical research fellow at the University of Cambridge, aid: "We calculate that 0.3% of the genetic component of breast cancer is due to this gene in European populations."
The consortium reports its results in a paper in Nature Genetics (Feb. 11) titled: "A common coding variant in CASP8 is associated with breast cancer risk". The first author is Angela Cox of Sheffield University Medical School (Sheffield, UK).
For the study, the consortium pooled data from up to 15 studies that provided genetic information on more than 18,000 cases and almost 23,000 controls. The researchers were looking for evidence of an altered risk of breast cancer associated with each of 9 different gene variants that are common in the population (single nucleotide polymorphisms or SNPs). Studies had previously suggested that these gene variants were associated with an altered risk of breast cancer.
As reported in Nature Genetics, they found no conclusive evidence for an association with breast cancer for eight of the nine variants. For the ninth variant, that in CASP8, there was a statistically significant reduction in the risk of breast cancer.
The study found that 26% of women carry one copy of the variant in CASP8 and that they were at 10% lower risk of developing breast cancer compared to women who did not carry this variant. Women who carry two copies of the variant in question (about 2% of the population) are even less likely to develop breast cancer, with a relative risk of 0.81.
CASP8 is known to be involved in apoptosis (programmed cell death). Nothing is known, however, about how the SNP associated with the change in breast cancer risk affects the functioning of the protein product of CASP8. The researchers also need to carry out studies to determine whether it is the SNP itself that is responsible for the observed effect, or whether the influence is due to another gene or part of a gene that is commonly inherited with the SNP.
Stratton said: "We need to carry out further work on this variant and understand what it does to the process of apoptosis. By observing what effect increasing or decreasing apoptosis through CASP8 has on the development of breast cancer, this variant may tell us what our strategies ought to be in order to reduce breast cancer, and possibly treat it as well."
Transgenomic, Fiuotecnia in cardio test pact
Transgenomic (Omaha, Nebraska) reported that it has renewed a collaboration with Fiuotecnica S.r.l. (Metaponto, Italy) to develop a genetic panel assay to predict the risk of cardiovascular disease and heart attacks using Transgenomic's WAVE System. Transgenomic will supply its WAVE technology and related reagents to Fiuotecnica.
Upon completion of the assay development, Fiuotecnica will retain rights to market the cardiovascular panel in Italy, while Transgenomic will obtain rights to market the assay in the rest of the world.
Antonio Mele, MD, CEO of Fiuotecnica, said his company has evaluated other platforms, "but we believe that Transgenomic's unique technology platforms, including the WAVE System for DHPLC analysis and Surveyor Nuclease, provide the highest sensitivity for mutation detection. Our decision to work with Transgenomic as a partner has been affirmed by the Italian Ministry of University and Research, which is supporting this important work."
Craig Tuttle, CEO of Transgenomic, said, "Fiuotecnica's choice of Transgenomic as a partner to develop this cardio panel provides further validation of our core technologies in the European market, where we have always enjoyed an advantage." He said the assy to be developed "will be an important addition to our Transgenomic Laboratories' CLIA genetic screening offerings to hospitals and clinicians."
Transgenomic provides products, discovery and laboratory testing services to the academic and medical research, clinical and pharma markets for automated genetic variation and mutation analysis.
North Med to be Misonix Czech distributor
Misonix (Farmingdale, New York), a developer of ultrasonic technology, reported international expansion of its ultrasonic neuroaspirator product line into Eastern and Central Europe via a distribution agreement with North Med spol. s.r.o. for its FS1000RF Sonastar Ultrasonic Surgical Aspirator system, one of the products available under the company's Neuroaspirator line.
North Med, will distribute the Sonastar Aspirator in both the Czech Republic and Slovak Republic, primarily into the neurosurgery markets of these nations.
The Sonastar enables surgeons to precisely remove both soft and hard tissue such as brain and spinal tumors, boney processes and liver tumors. The system is indicated for use in the fragmentation, emulsification and aspiration of soft and hard (i.e. bone) tissue in neurosurgery, general, gynecological, plastic and reconstructive, orthopedic, urological, thoracic, thoracoscopic, laparoscopic and gastrointestinal surgery.
North Med was founded in 1991 by Petr Krejsa.