TGen develops quality-control test for detecting cancer in blood

May 09, 2018

PHOENIX, Ariz. -- May 9, 2018 -- Imagine how much patients could benefit if you could discover the presence of cancer, and even how that cancer develops over time, with a simple blood test.

There is vast potential in precision-medicine methods of both detecting and monitoring disease by looking for indications of cancer mutations in cell-free DNA (cfDNA), found floating in the blood. However, there are many factors that can significantly alter these samples as they are collected and analyzed.

To help evaluate and ensure the quality of these molecular biomarkers, a scientific team led by the Translational Genomics Research Institute (TGen) has devised a rapid test -- a droplet digital PCR (ddPCR) assay -- so these samples can be used to help determine the presence and progression of disease.

This new test has shown promising results in helping evaluate cfDNA biomarkers in several cancer types, including melanoma, cholangiocarcinoma (bile duct cancer), rectal cancer and breast cancer, according to a study published today in the journal Scientific Reports.

"In order for us to rely on sequencing results and evidence of cancer mutations from these samples and to make valid recommendations for treating physicians, we must ensure they have been collected and processed appropriately," said Dr. Muhammed Murtaza, Co-Director of TGen's Center for Noninvasive Diagnostics, a researcher at Mayo Clinic's Arizona campus, and the senior author of the study. "We developed this new quality-control assay to ensure we can confirm reliability using a very small volume of a patient's blood sample."

For example, the cfDNA in blood can be contaminated if peripheral blood cells are ruptured, releasing longer DNA fragments, not intended as part of the readout, which can then bias the results.

The new TGen test can filter out such variables, and evaluate the quantity and quality of blood cfDNA samples to improve the performance of subsequent sequencing tests, in which the billions of data points in DNA can be spelled out and analyzed.

While the consensus of professional medical experts is that these types of circulating tumor DNA (ctDNA) tests have not yet been perfected enough for use outside clinical trials, the new TGen assay is a significant step towards making these so-called liquid biopsies a routine, non-invasive and accurate method of screening for cancer, detecting early-stage cancer, making treatment decisions, and monitoring how well a treatment is working.

"We now routinely use this assay for quality assessment of all plasma samples processed and analyzed for ctDNA studies in our lab," said Havell Markus, a member of Dr. Murtaza's lab, and the study's lead author.

Also contributing to this study were: Mayo Clinic Center for Individualized Medicine, Oxford University, the North Wales Cancer Treatment Centre, University of California Los Angeles, and Yale University.

Dr. Murtaza and Tania Contente-Cuomo, a member of Dr. Murtaza's lab and also an author of the study, have applied for a patent for the ddPCR assay.
-end-
The study -- Evaluation of pre-analytical factors affecting plasma DNA analysis -- was supported by grants from: Bisgrove Scholars Award from Science Foundation Arizona, The V Foundation for Cancer Research, Stand Up To Cancer (SU2C), The Ben and Catherine Ivy Foundation, and Desert Mountain CARE.

About TGen

Translational Genomics Research Institute (TGen) is a Phoenix, Arizona-based non-profit organization dedicated to conducting groundbreaking research with life changing results. TGen is focused on helping patients with neurological disorders, cancer, diabetes, and infectious diseases, through cutting edge translational research (the process of rapidly moving research towards patient benefit). TGen physicians and scientists work to unravel the genetic components of both common and rare complex diseases in adults and children. Working with collaborators in the scientific and medical communities literally worldwide, TGen makes a substantial contribution to help our patients through efficiency and effectiveness of the translational process. TGen is affiliated with City of Hope, a world-renowned independent research and cancer and diabetes treatment center: http://www.cityofhope.org. This precision medicine affiliation enables both institutes to complement each other in research and patient care, with City of Hope providing a significant clinical setting to advance scientific discoveries made by TGen. For more information, visit: http://www.tgen.org. Follow TGen on Facebook, LinkedIn and Twitter @TGen.

Media Contact:

Steve Yozwiak
TGen Senior Science Writer
602-343-8704
syozwiak@tgen.org

The Translational Genomics Research Institute

Related Breast Cancer Articles from Brightsurf:

Oncotarget: IGF2 expression in breast cancer tumors and in breast cancer cells
The Oncotarget authors propose that methylation of DVDMR represents a novel epigenetic biomarker that determines the levels of IGF2 protein expression in breast cancer.

Breast cancer: AI predicts which pre-malignant breast lesions will progress to advanced cancer
New research at Case Western Reserve University in Cleveland, Ohio, could help better determine which patients diagnosed with the pre-malignant breast cancer commonly as stage 0 are likely to progress to invasive breast cancer and therefore might benefit from additional therapy over and above surgery alone.

Partial breast irradiation effective treatment option for low-risk breast cancer
Partial breast irradiation produces similar long-term survival rates and risk for recurrence compared with whole breast irradiation for many women with low-risk, early stage breast cancer, according to new clinical data from a national clinical trial involving researchers from The Ohio State University Comprehensive Cancer Center - Arthur G.

Breast screening linked to 60 per cent lower risk of breast cancer death in first 10 years
Women who take part in breast screening have a significantly greater benefit from treatments than those who are not screened, according to a study of more than 50,000 women.

More clues revealed in link between normal breast changes and invasive breast cancer
A research team, led by investigators from Georgetown Lombardi Comprehensive Cancer Center, details how a natural and dramatic process -- changes in mammary glands to accommodate breastfeeding -- uses a molecular process believed to contribute to survival of pre-malignant breast cells.

Breast tissue tumor suppressor PTEN: A potential Achilles heel for breast cancer cells
A highly collaborative team of researchers at the Medical University of South Carolina and Ohio State University report in Nature Communications that they have identified a novel pathway for connective tissue PTEN in breast cancer cell response to radiotherapy.

Computers equal radiologists in assessing breast density and associated breast cancer risk
Automated breast-density evaluation was just as accurate in predicting women's risk of breast cancer, found and not found by mammography, as subjective evaluation done by radiologists, in a study led by researchers at UC San Francisco and Mayo Clinic.

Blood test can effectively rule out breast cancer, regardless of breast density
A new study published in PLOS ONE demonstrates that Videssa® Breast, a multi-protein biomarker blood test for breast cancer, is unaffected by breast density and can reliably rule out breast cancer in women with both dense and non-dense breast tissue.

Study shows influence of surgeons on likelihood of removal of healthy breast after breast cancer dia
Attending surgeons can have a strong influence on whether a patient undergoes contralateral prophylactic mastectomy after a diagnosis of breast cancer, according to a study published by JAMA Surgery.

Young breast cancer patients undergoing breast conserving surgery see improved prognosis
A new analysis indicates that breast cancer prognoses have improved over time in young women treated with breast conserving surgery.

Read More: Breast Cancer News and Breast Cancer Current Events
Brightsurf.com is a participant in the Amazon Services LLC Associates Program, an affiliate advertising program designed to provide a means for sites to earn advertising fees by advertising and linking to Amazon.com.