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Cancer genetics

Understanding inherited cancer risk.

A minority of cancers are related to an inherited change that runs in a family. Identifying that possibility can influence screening, prevention and sometimes treatment — for the individual and for relatives.

What it involves

What genetic assessment involves.

When it is considered

Features such as cancer at a young age, multiple cancers in one person, several affected relatives, or particular cancer types or patterns may prompt assessment.

Family history review

A structured three-generation family history is the starting point and often determines whether testing is appropriate at all.

Germline versus tumour testing

Germline testing looks at inherited variants present throughout the body. Tumour testing looks at changes within the cancer. They answer different questions.

Counselling before testing

What the test can and cannot show, possible results including uncertain findings, and the implications for you and your relatives are discussed before any test is done.

Interpreting results

Results may be pathogenic, benign or of uncertain significance. Interpretation depends on the gene, the variant and the clinical and family context.

Implications for relatives

Where an inherited variant is confirmed, relatives may be offered testing and risk-appropriate screening, with their own counselling.

Risk management

Depending on the finding, options may include enhanced surveillance, risk-reducing measures or, in some cancers, treatment relevance.

This page explains factors that can make a hereditary cancer discussion worthwhile. It does not estimate the probability that any individual carries an inherited variant, and it does not diagnose an inherited cancer syndrome. Genetic testing is a considered decision taken with counselling, not a routine add-on, and results are interpreted by clinicians.

Discuss family history and hereditary cancer risk.

Bringing details of which relatives were affected, with which cancer and at what age, makes the discussion far more useful.

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