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Data Demonstrates Impact of First Major Advance in Over 10 Years to Increase Diagnostic Yield in Genetic Testing for Hereditary Cancer Risk
In a prospective study, the addition of RNA genetic testing to hereditary cancer panels identified more disease-causing mutations compared to
DNA-only testing -- and clarified inconclusive results.
Data is now available from the first prospective study of paired RNA and DNA genetic testing for hereditary cancer risk,
called +RNAinsight™. The data from this study of the first 1,000 patients to receive +RNAinsight show a significant increase in diagnostic yield (identifying mutations in our DNA as disease-causing) compared to DNA testing alone. This is the first major increase
in diagnostic yield for hereditary cancer risk in over 10 years. Through +RNAinsight, Ambry Genetics is the first and only lab to offer paired RNA and DNA genetic testing for hereditary cancer as a commercially available clinical test.
Standard DNA testing excludes large portions of DNA, thereby missing some mutations that cause increased risks for cancer. In addition, DNA testing for hereditary cancer risk can produce inconclusive results and fail to determine that a variant (an error in
our DNA) increases cancer risk. These limitations impact patients and their families because doctors may not have the information needed to recommend appropriate preventive, early detection steps, or certain therapeutic treatments, and relatives may not be
referred for genetic testing and subsequently may not be referred for necessary high-risk surveillance. Adding RNA to DNA testing overcomes these limitations for a substantial number of patients as RNA provides considerably more evidence than DNA alone about
whether our DNA has variants that increase cancer risk.
1,000 patients who received RNA genetic testing (for up to 18 genes) showed a relative increase in diagnostic yield of 9.1 percent more than DNA testing alone. Adding RNA genetic testing also resulted in a 5.1 percent relative decrease in the number of patients
that would have received inconclusive results with DNA testing alone and would not have learned whether they had increased cancer risk.
+RNAinsight is now available through doctors and genetic counselors around the country. For more information on RNA genetic testing, please go to
SOURCE: Ambry Genetics via PRNewswire
Cancer: Hormone Therapy Has a Bigger Impact Than Chemotherapy on Women's Quality of Life
Work directed by Dr Inès Vaz-Luis, specialist breast cancer oncologist and researcher at
Institut Gustave Roussy Paris
Analysis of the CANTO cohort published in the journal Annals of Oncology will upset received wisdom on the effects that hormone therapy and chemotherapy have on the quality of life
in women with breast cancer. Contrary to the commonly held view, 2 years after diagnosis, hormone therapy, a highly effective breast cancer treatment worsens quality of life to a greater extent and for a longer time, especially in menopausal patients. The
deleterious effects of chemotherapy are more transient. Given that current international guidelines recommend the prescription of hormone therapy for 5 to 10 years, it is important to offer treatment to women who develop severe symptoms due to hormone antagonist
medication and to identify those who might benefit from less prolonged or intensive treatment strategies.
"This analysis of the CANTO cohort shows for the first time that anti-hormonal treatments do not have lesser effects
than chemotherapy on women's quality of life. Quite the contrary, as the diminution in quality of life which is noted at diagnosis is still present two years later, whereas the impact of chemotherapy is more temporary," explained Dr Vaz-Luis.
In this study, researchers measured quality of life in 4,262 patients with localised breast cancer (stage I to III)
at the time of diagnosis and at one and two years thereafter. Primary treatment for these patients was surgical and, for some of them, administration of chemotherapy and/or radiotherapy. About 75-80% of them then took hormone therapy for at least 5 years.
Quality of life was measured using a tool which assesses general quality of life in patients with all types of cancer (EORTC QLQ-C30) combined with a tool more specifically designed for use in breast cancer (QLQ-BR23).
For the population studied as a whole there was an overall deterioration in the quality of life at two years from diagnosis.
This deterioration was greater in patients who had received hormone therapy, especially after the menopause. By contrast, chemotherapy had a bigger effect on quality of life in non-menopausal patients, especially in terms of worsening of cognitive functions.
SOURCE: Institut Gustave Roussy via PRNewswire
Image credits: DNA Strand & Women Backpacking both courtesy of Pixabay Free License CC0
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