How does a tumour variant differ from an inherited variant?

Start with the sample and question

Tumour tests investigate alterations in cancer material. Hereditary predisposition tests assess possible germline variants. These sets can overlap, but finding an alteration in a tumour sample does not itself show that it has been present since conception.

Separate annotation from interpretation

An annotator may describe a variant’s location and predicted consequence in a transcript. This does not classify it as disease-causing or establish therapeutic utility. Interpretation requires evidence, assay quality, context and specific criteria.

Record remaining uncertainty

Check the reference genome, transcript, material, classification criteria and confirmation. Variants of uncertain significance must be described accordingly. Questions about familial predisposition require appropriate assessment, including implications for the individual and relatives.

Interpretation limits

Finding a variant does not automatically diagnose a hereditary syndrome.

A germline variant associated with risk does not make cancer inevitable.

Continue exploring

Select tools by method, population and purpose. A thematic connection does not validate use in every case.