Gene Alterations in Rare Cancers Could Allow for Earlier Diagnosis of Hereditary Cancers

Reports by experts find approximately five to ten percent of cancers may be traced to hereditary genetic changes (germline mutations) which exist in each and every cell.

Instead, research in this area is generally conducted on the more common cancer types such as colorectal and breast cancers. A recent article in MedicalXpress credits a new study to a Cancer Consortium in Germany consisting of an international research team. The researchers found that hereditary changes are critical in certain rare cancers yet are seldom diagnosed.

Rare Cancers

The study involved approximately 1,500 patients with almost eighty percent of the patients diagnosed with a rare cancer. The team used a technology called Next Generation Sequencing to search tumor and blood samples for hereditary mutations (germline mutations). Their search involved 101 cancer-risk genes.

The researchers found that over ten percent of participants had an inherited cancer predisposition (autosomal dominant) indicating a higher risk of cancer. A total of seventy-five percent of these cases were just discovered. In these cases, there is a fifty percent chance of the risk being passed on through generations. As a result of the new study, family members are now added to the genetic testing and detection programs.

Results of the Study

The results of the study were recently published in the Annals of Oncology.

Hanno Glimm, DKFZ Dresden department head, told MedicalXpress that the study found a higher number of rare cancer patients with a cancer predisposition than expected. He also emphasized that these patients are not usually tested. Glimm indicated that he thinks the study will influence future demand for better molecular analysis.

The team also conducted a MASTER study comprised of human genetics, internal medicine, oncology, and pathology. These experts evaluated genetic variants in tumors and blood and demonstrated that the results of their analysis support therapy decisions and early detection of cancer.

More importantly, the team could suggest targeted therapies in accordance with certain genetic mutations for forty-six percent of patients who had a genetic mutation that was cancer driven.

About Specifics for Rare Cancers

A group leader at the Clinical Genetics Institute, Barbara Klink, explained that normally oncology research focuses on genetic changes affecting only tumor cells. The study found that regarding rare cancers, hereditary germline mutations must also be analyzed using blood samples in a substantial number of genes.



Rose Duesterwald

Rose Duesterwald

Rose became acquainted with Patient Worthy after her husband was diagnosed with Acute Myeloid Leukemia (AML) six years ago. During this period of partial remission, Rose researched investigational drugs to be prepared in the event of a relapse. Her husband died February 12, 2021 with a rare and unexplained occurrence of liver cancer possibly unrelated to AML.

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