Breaking News
November 14, 2018 - Research highlights physical changes in the brain of self-injuring teen girls
November 14, 2018 - Speed and error rate of DNA synthesis influenced by DNA structure
November 14, 2018 - Cranberry consumption modifies impact of animal-based diet on gut health
November 14, 2018 - £500,000 grant could pave way for new antibiotic to battle against drug-resistant superbugs
November 14, 2018 - Trump Administration Finalizes Birth Control Coverage Opt-Out
November 14, 2018 - Modern life offers children almost everything they need, except daylight
November 14, 2018 - Getting better: A patient is more than a collection of numbers
November 14, 2018 - 20 Americans Die Each Day Waiting For Organs
November 14, 2018 - First bifacial molecule can invade double-stranded DNA or RNA
November 14, 2018 - Study finds lack of safety data for using flowers in cooking
November 14, 2018 - Statistical methods play key role in predicting efficacy of new drugs
November 14, 2018 - Health Tip: Limit Fat, Sugar and Salt in Your Child’s Diet
November 14, 2018 - CA 19-9 Blood Test (Pancreatic Cancer): MedlinePlus Lab Test Information
November 14, 2018 - Old drug could have new use helping sick premature babies
November 14, 2018 - Surgery, not antibiotics, should remain first-line treatment for appendicitis | News Center
November 14, 2018 - Researchers to develop sports-specific classification system for blind football
November 14, 2018 - Preschool children show awake responses to naptime nonsense words
November 14, 2018 - Survey shows negative effect of vulvovaginal atrophy symptoms on quality of life for women
November 14, 2018 - Study sheds light on mechanisms that prevent autoimmune attack
November 14, 2018 - Sleep quality found to be worse for women who undergo surgical menopause
November 14, 2018 - One-hour cognitive behavioral therapy session reduces insomnia symptoms in prisoners
November 14, 2018 - New study provides deeper insight into chromosome segregation during mitosis
November 14, 2018 - Surgical menopause leads to more disrupted sleep than natural menopause
November 14, 2018 - Inhibition of one protein clears toxic clumps seen in Parkinson’s disease, study finds
November 14, 2018 - Appendix removal is linked to lower risk of Parkinson’s
November 14, 2018 - Lifting weights for less than an hour a week may reduce cardiovascular disease risk
November 14, 2018 - Pulmonary rehabilitation rarely received by hospitalized COPD patients despite health benefits
November 14, 2018 - New anti-HER2 drug shows promising anti-tumor activity in gullet, stomach and bowel cancers
November 14, 2018 - Regular head circumference assessment of preterm babies can help identify long-term IQ problems
November 14, 2018 - Brigham investigators examine opioid use among Massachusetts adolescents, prescription trends
November 14, 2018 - Study defines biomarker in response to treatment of castration-resistant prostate cancer
November 14, 2018 - Study identifies potential therapeutic strategy for patients with clear cell renal cancer
November 14, 2018 - Bausch Health Announces U.S. Launch of Bryhali (halobetasol propionate) Lotion, 0.01%, for Plaque Psoriasis In Adults
November 14, 2018 - Alpha Fetoprotein (AFP) Tumor Marker Test: MedlinePlus Lab Test Information
November 14, 2018 - Researchers evaluate controversial treatment for Parkinson’s disease psychosis
November 14, 2018 - AI could help veterinarians code their notes
November 14, 2018 - Pre-schoolers with autism thrive in mainstream classroom settings
November 14, 2018 - Individual and work-related factors may help promote hospital physician engagement, finds study
November 14, 2018 - Complementary and alternative medicine is widely used by general population in England
November 14, 2018 - Study reveals link between tobacco availability and smoking during pregnancy
November 14, 2018 - Purdue researchers develop translucent base for silicon patches to deliver exact doses of biomolecules
November 14, 2018 - New technology based on moths and magnets could help treat genetic diseases
November 14, 2018 - Concussion-Related Biomarkers Vary Based on Sex, Race
November 14, 2018 - One more year of high school may shape waistlines later in life
November 14, 2018 - Dissecting high drug costs – Scope
November 14, 2018 - Study shows novel strategy to reduce breast cancer bone metastasis
November 14, 2018 - Empowering the NHS through Industry Partnerships
November 14, 2018 - One size does not fit all in obesity treatment, study finds
November 14, 2018 - Seeking ways to prevent ‘secondary cataracts’
November 14, 2018 - Change Within the Eye May Be Early Warning for Macular Degeneration
November 14, 2018 - Study of 500,000 people clarifies the risks of obesity
November 14, 2018 - Ultrasound releases drug to alter activity in targeted brain areas in rats | News Center
November 14, 2018 - Umass Amherst researchers battle against youth suicide in rural Alaska Native communities
November 14, 2018 - Cancer stem cells depend on amino acid metabolism, and it’s proving to be their Achilles’ heel
November 14, 2018 - Epigenetic link found between prenatal exposure to maternal smoking and offspring’s cardio-metabolic health
November 14, 2018 - Meditation, music may change biomarkers of cellular aging and Alzheimer’s disease in older adults
November 14, 2018 - Multidisciplinaryresearch teams selected to study age-related brain disorders
November 14, 2018 - The Current issue of “The view from here” is concerned with Informatics
November 14, 2018 - Researchers identify tool to help transgender women have a more authentic voice
November 14, 2018 - Four faculty members appointed to endowed professorships | News Center
November 13, 2018 - Research finds strongest evidence yet that obesity causes depression
November 13, 2018 - Researchers compare stools of breastfed and formula-fed infants
November 13, 2018 - Entasis Therapeutics Announces Zoliflodacin Phase 2 Results Published in The New England Journal of Medicine
November 13, 2018 - Gene changes driving myopia reveal new focus for drug development
November 13, 2018 - $6 million grant to support study of preeclampsia, atherosclerosis links | News Center
November 13, 2018 - Beneficial gut microbes metabolize high-fiber diet to improve heart health in mouse model
November 13, 2018 - Excessive use of social media through visual postings linked to increase in narcissistic traits
November 13, 2018 - Study finds why obesity both fuels cancer growth and helps immunotherapy to kill tumors
November 13, 2018 - Women prefer and invest more in daughters, while men favor sons
November 13, 2018 - With hospitalization losing favor, judges order outpatient mental health treatment
November 13, 2018 - Transgenic rat model may provide new insights into cerebral amyloid angiopathy
November 13, 2018 - Study identifies factors tied to greater risk of advanced liver disease in cystic fibrosis patients
November 13, 2018 - Risk of blindness among premature babies with low levels of blood platelets
November 13, 2018 - A new strategy for combatting antibiotic-resistant infections
November 13, 2018 - Study aims to find which outreach method is more effective at improving cancer screening rates
November 13, 2018 - Insufficient sleep duration linked with unhealthy lifestyle profile among children
November 13, 2018 - IIASA researchers introduce new, simple measure for human wellbeing
November 13, 2018 - Magnetic nanosprings used as targeted drug delivery agents for anticancer therapy
November 13, 2018 - Scientists examine FCMs containing silver nanoparticles
November 13, 2018 - Failed DNA repair triggers chromosomal chaos
Accurately diagnosing genetic disease prevents cancer, saves lives

Accurately diagnosing genetic disease prevents cancer, saves lives

image_pdfDownload PDFimage_print
Credit: CC0 Public Domain

A single, upfront genomic test is more effective for detecting Lynch syndrome in colorectal cancer (CRC) patients than the traditional multiple, sequential testing approach, according to new clinical data reported by The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute (OSUCCC – James).

Researchers say offering this type of advanced genetic testing at the time of diagnosis could help guide and expedite treatment decisions for many patients who have CRC while simultaneously identifying the patients who are likely to have Lynch syndrome. This cancer-causing condition occurs when a person inherits a mutation in one of the DNA repair genes. Individuals with Lynch syndrome are much more likely to develop CRC, uterine, ovarian, stomach or other cancers than the general population.

For this study, researchers wanted to know if an upfront tumor-sequencing approach using a single test that screens for multiple mutations could replace the current multi-test screening approach commonly used to determine if a patient has Lynch syndrome.

To do this, researchers analyzed tumor samples from 419 CRC patients who participated in the Ohio Colorectal Cancer Prevention Initiative (OCCPI), a statewide research study to screen newly diagnosed CRC patients and their biological relatives for Lynch syndrome.

All OCCPI study participants had their tumor samples analyzed using the traditional multi-test genetic testing approach and the single, upfront genomic tumor-sequencing test approach in which a single tumor sample was analyzed for multiple mutations simultaneously.

Researchers compared results from the two screening methods and found that the upfront tumor-sequencing approach was more sensitive and more specific for detecting Lynch syndrome than the old, multiple-test model. Tumor sequencing resulted in a 10-percent improvement in Lynch syndrome detection rates while also providing important information about treatment options for the patients.

They report their findings in the March 29, 2018, issue of the medical journal JAMA Oncology.

“Testing methods of the past would just point to a suspicion of Lynch syndrome, but they could not confirm the diagnosis without multiple additional tests, which slows down the diagnostic process and adds costs,” says Heather Hampel, MS, CGC, corresponding author of the study and principal investigator of OCCPI. “This new approach points to the exact mutation patients were born with and does so through a single test. The mutation will need to be confirmed using a blood test but this requires a single mutation test which is less expensive than multi-gene panel testing. The previous method could sometimes require patients to get up to five individual tests before knowing if they had Lynch syndrome.”

The study also showed the test had some unanticipated benefits. For example, eight patients (1.7%) with DYPD mutations were identified. Patients with this mutation are prone to severe toxic reactions to 5-FU chemotherapy, the most common chemotherapy used to treat CRC. Another eight patients were found to have mutations in different hereditary cancer susceptibility genes which is important information for the patient and their family members.

“Knowing this type of information ahead of time might be useful for oncologists who can select another drug or use lower doses to avoid these bad reactions. In addition, this test can also identify other potential hereditary cancer syndromes by looking at other known cancer susceptibility genes at the same time,” said Hampel.

It was already known that upfront tumor testing could be used to accurately test for mutations in the three genes (BRAF, KRAS, and NRAS) that help determine treatment options for patients with advanced stage colorectal cancer; using this same test to determine Lynch syndrome status is a new discovery.

Researchers say this is a step toward integrating upfront tumor testing as part of the standard of care for all CRC patients instead of reserving this testing for advanced-stage patients for whom standard therapies are not working.

“While this new test is more expensive, it will eliminate many other tests for a subset of patients so that it may be more cost-effective overall. If it is not now, it will certainly be in the future as the costs of tumor sequencing continue to decline,” adds Hampel.

However, formal cost analysis studies will be necessary to determine if this is a cost-effective approach.


Explore further:
Many early-onset colon cancers are caused by genetic mutations passed through families

Journal reference:
JAMA Oncology

Provided by:
The Ohio State University Comprehensive Cancer Center

Tagged with:

About author

Related Articles