Nearly 1,500 patients were included in the trial, of whom around 80 percent had rare cancers. More than ten percent of all participants were found to have a hereditary predisposition to cancer, 75% of these cases were newly detected. Family members can now be included in genetic testing and clinical early-detection programs before developing cancer. The results of the study were published in Annals of Oncology.
Experts estimate that around five to ten percent of all cancers can be traced back to hereditary genetic changes, also called germline mutations. These are present in every cell in the body. Research on this issue is usually conducted on patients with more common forms of cancer, such as breast and colorectal cancer.
In this new study, based on a broad dataset, an international team of researchers was able to demonstrate that hereditary cancer-driving changes play an important role in various rare cancers, but are hardly ever diagnosed. Nearly 1,500 patients were included in the study, of whom around 80 percent had rare cancers. Using modern high-throughput genome sequencing of blood and tumor samples, researchers looked for germline mutations in 101 clinically relevant cancer risk genes.
Over ten percent of all participants were found to have an autosomal dominant, inherited cancer predisposition. This is associated with a much higher lifetime risk of cancer ,with a 50 percent chance of it being passed on from generation to generation, regardless of gender. For 75 percent of patients and their families, this genetic tumor risk situation was diagnosed for the first time in the MASTER study.
Evelin Schröck, Director of the Institute of Clinical Genetics at University Hospital Carl Gustav Carus Dresden, explains: “In cases where this kind of genetic tumor risk syndrome is suspected, it is particularly important to perform genetic testing on the patients and their family members to determine their individual cancer risk and to be able to detect cancer as early as possible, or even prevent it, through continuous preventive examinations.”
Hanno Glimm, a member of the managing directorate of NCT/UCC Dresden and a head of department at the DKFZ, explains: “Our study shows that a surprisingly high proportion of patients with rare cancers have a hereditary predisposition to cancer and that a large proportion of these predispositions are not normally diagnosed. We hope that, in future, many more patients with rare cancers will be able to receive comprehensive molecular analysis”.
MEDICA-tradefair.com; Source: Nationales Centrum für Tumorerkrankungen (NCT) Heidelberg
