Detection of a somatic (tumour) IDH1 variant at R132 has implications for management of patients with inoperable or metastatic cholangiocarcinoma.

The identification of a variant (mutation) in the ESR1 gene in circulating tumour DNA (ctDNA) from a patient with metastatic ER-positive, HER2-negative breast cancer who has progressed on endocrine therapy has implications for the clinical management of the current cancer.

The identification of a somatic (tumour) RET rearrangement in a patient with metastatic papillary thyroid cancer may have implications for the management of the patient’s cancer, including access to targeted therapies and clinical trial eligibility.

The identification of a somatic NTRK rearrangement in a patient with metastatic medullary thyroid cancer may have implications for the management of the patient’s cancer, including access to targeted therapies and clinical trial eligibility.

The identification of a constitutional (germline) pathogenic variant in the ATM gene in a patient with breast cancer may have implications for the clinical management of the current cancer, as well as for the patient’s future cancer risk. It should also trigger cascade testing in the wider family.

CanRisk is an online risk prediction tool that helps the user estimate the likelihood of identifying a constitutional (germline) pathogenic variant in a breast and/or ovarian cancer predisposition gene in a patient based on their personal and family history. It also calculates future risk of breast and/or ovarian cancer, taking into account personal and family history, lifestyle and reproductive factors.

Juvenile polyposis syndrome is a rare autosomal dominant precancerous condition associated with an increased risk of gastrointestinal (GI) tract cancers.

Genomic testing in hepatocellular carcinoma may impact clinical management of the patient’s current cancer, as well as of their future cancer risk and that of their relatives.

Genomic testing in biliary tract cancer (including cholangiocarcinoma and gallbladder cancer) may impact clinical management of the patient’s current cancer, as well as of their future cancer risk and that of their relatives.

The identification of a constitutional (germline) DPYD pathogenic variant in a patient with hepatocellular cancer has implications for their clinical management. It may also have implications for relatives diagnosed with cancer who are planning to undergo fluoropyrimidine-based chemotherapy treatment.