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ATM-associated cancer risk

Patients with a pathogenic variant in the ATM gene have an increased risk of cancer, which may include the rare condition ataxia telangiectasia.

Results: Patient with mesothelioma and a somatic (tumour) NTRK rearrangement

The detection of a pathogenic somatic (tumour) NTRK rearrangement in a patient with mesothelioma may have implications for the clinical management of the current cancer.

Presentation: Patient with carcinoma of unknown primary

Genomic testing in carcinoma of unknown primary may have implications for the clinical management of the patient’s current cancer, as well for their family members.

Results: Patient with cancer and no identified constitutional (germline) pathogenic variant

Advice for patients with cancer whose constitutional (germline) genomic testing results are uninformative should be guided not just by their negative result, but also by their personal and family history. The patient and their relatives may still require enhanced cancer screening.

Results: Patient with lung cancer (non-small cell) and a somatic (tumour) ROS1 rearrangement

The identification of somatic (tumour) ROS1 rearrangement in a patient with lung cancer has implications for the clinical management of the current cancer, eligibility for clinical trials and, possibly, prognosis.

Results: Patient with lung cancer (non-small cell) and a somatic (tumour) EGFR variant

The identification of a somatic (tumour) EGFR gene variant in a patient with lung cancer (non-small cell) has implications for the clinical management of the current cancer, eligibility for clinical trials and possibly for prognosis.

Results: Patient with lung cancer (non-small cell) and a somatic (tumour) ALK rearrangement

The identification of somatic (tumour) ALK gene rearrangement in a patient with lung cancer has implications for the clinical management of the current cancer, eligibility for clinical trials and possibly prognosis.

Atezolizumab

Atezolizumab is a monoclonal antibody currently licensed for use in breast cancer, non-small cell lung cancer, small cell lung cancer, urothelial carcinoma and hepatocellular carcinoma.

Presentation: Patient with advanced lung cancer (non-small cell)

Somatic (tumour) genomic testing is crucial to inform optimal therapy in cases of possible, probable or definite adenocarcinoma that is suitable for systemic anticancer therapy.

Lung cancer

Lung cancer is the third most common cancer in the UK but causes the highest number of deaths. Although the inherited component to lung cancer is complex and not well understood, somatic (tumour) genomic testing is well-established and important for optimal management.