Genetic changes allow early detection of hereditary cancer risk – review of the scientific article by BIOMEDICA CRO team
In the recent study, conducted in the National Center for Tumor Diseases/German Cancer Consortium (NCT/DKTK), nearly 1,500 patients were included in the trial, of whom about 80% had rare cancers. More than 10% of all participants were found to have a hereditary predisposition to cancer, 75% of these cases were newly detected.
Using modern high-throughput genome sequencing of blood and tumor samples, researchers looked for germline mutations in 101 clinically relevant cancer risk genes. The researchers were able to recommend a targeted therapy based on the specific genetic changes for almost half (46%) of patients with a cancer-driving genetic mutation. Around a quarter of these patients were treated in line with the recommendation, resulting in improved disease control for 40% of those affected, in comparison to their previous treatment.
“We are particularly interested in how it can be used to improve life expectancy and quality of life for patients and their family members,” says Arne Jahn, the first author of the study, who is a clinician scientist at the Institute of Clinical Genetics and a research group leader at NCT/UCC Dresden.
Please find more information on the Annals of Oncology website, research articles, “Comprehensive cancer predisposition testing within the prospective MASTER trial identifies hereditary cancer patients and supports treatment decisions for rare cancers”.
How does biospecimens supplier BIOMEDICA CRO support cancer research?
BIOMEDICA CRO provides prospective and retrospective collections of the numerous human biospecimens types and associated clinical data since 2017.
Our main area is cancer research. The explanation of our choice is simple and scary simultaneously – because of the lack of mandatory conduction of cancer screening programs in Ukraine, unfortunately, we have many patients who are newly diagnosed with cancer in the late stages.
According to statistical data for the 2021 year (all new cases, both sexes, all ages) – TOP-10 most often cancer localizations diagnosed for the first time in Ukraine are the following:
- Breast
- Lungs (most often cause death!)
- Colon
- Rectum
- Non-malanoma skin cancers
- Stomach
- Kidney
- Prostate
- Uterus
- Pancreas
It is feasible to collect tissue samples (tumor/NAT FFPE blocks, fresh frozen tissue samples, histological slides, and lymph nodes), blood samples (plasma, serum, buffy coat, PBMC) and other biofluids, such as stool, urine, etc. from patients with oncological conditions.
Our duty and honor are to work on involving as many donors as possible to participate in preclinical trials of world-known pharmaceutical companies and diagnostic centers. This way, we support the research and move science forward.
Besides oncology, we have 50+ contracted clinical sites in a broad range of disease areas.
If you need a reliable partner to source human biospecimens, BIOMEDICA CRO is here to help. Please email us to start our collaboration: office@biomedica-cro.com / LinkedIn.
Feel free to place a request for human biospecimens.







