Adolescent and young adults (AYAs) with cancer are likely to have germline genetic variants associated with cancer predisposition that may present targets for approved therapeutic agents, according to an article appearing in the European Journal of Cancer.

However, an audit of germline and tumor testing procedures in patients being treated at a large institution revealed few patients actually received testing.

Terri Patricia McVeigh, MD, clinical research fellow at the Cancer Genetics Unit, and colleagues at the Royal Marsden NHS Foundation Trust, London, UK reviewed data regarding clinicopathological features, clinical assessments, and information regarding germline and tumor genetic testing from AYAs with advanced solid tumours who were managed in the specialist drug development unit (DDU) at the Royal Marsden Hospital between 2002 and 2016. Currently, eligibility for clinical trials is discussed at a weekly Patient Allocation Meeting, where factors, such as tumor type and results of germline and somatic assessment, are considered—with the aim of allocating patients to trials investigating the utility of agents targeting the gene in question or a key pathway in which it is involved.

This review, which aimed to determine whether germline genetic assessment had been done and the effect on treatment of tumor molecular profiling, included 219 patients aged 15 to 39 years; 139 patients were female and 80 were male.

The common cancer types in the study included 41 (19%) patients with sarcoma, 27 (12%) with cervical cancer, 25 (11%) with breast, 23 (11%) with ovarian, and 21 (10%) of patients with colorectal cancers. Cancers occurring at a lower frequency included melanoma, cholangiocarcinoma, hepatocellular carcinoma, and adrenal cortical cancer, as well as cancers of the brain, head and neck, lung, bladder, kidney, endometrium, and others. Germ cell cancers were recorded in 4 (2%) patients.

No family history information had been documented in either the referral documents or clinical notes for 81 (37%) of AYA patients initiating treatment for cancer. A family history positive for cancer, including a first-degree relative with cancer, was documented for 24 patients; of these, nearly half (10 patients) were noted to a have potentially shared genetic etiology. Of 42 patients with at least one second-degree relative with cancer, 19 had a cancer with potentially shared genetic susceptibility. The family history of 40 patients was recorded as ‘noncontributory’ in the clinical notes, with no detail given as to whether the information sought was limited to first-degree relatives, or whether a history of other cancers was present in the family.

The investigators found that germline testing had been carried out in just 34 (16%) of these patients. Under current testing criteria, an additional 32 (15%) would have been eligible for germline testing based solely on their personal history of cancer alone.