Around 5%–10% of cancers are caused by pathogenic variants in a cancer susceptibility gene. The inheritance of multiple lower-risk variants also increases cancer risk. Identifying individuals who are at increased risk can enable targeted screening, prevention and early diagnosis.
Genetic susceptibility to skin cancer can be caused by variants in single or multiple genes. Family history and the clinical presentation of any existing cancers may indicate an inherited predisposition.
Inherited cancer predisposition is thought to account for around 5% of kidney cancers and often occurs in younger people. Risk can be identified in several different ways, including through family history assessment.
Prostate cancer affects 1-in-8 men in the UK, with around 5% of cases connected to a cancer predisposition syndrome. A family history of prostate cancer increases an individual’s risk of developing it themselves.
A patient with a family history of breast and/or ovarian cancer may be at above-population risk of developing those cancers, possibly due to an inherited cancer predisposition syndrome. It is important to identify those at risk and facilitate onward referral to secondary care.
A family history of bowel cancer is a significant risk factor for patients. As a clinician, taking an accurate family history is an essential part of assessing your patient’s risk.
If pathogenic variants in the BRCA1 or BRCA2 genes are identified in one of your patient’s first-degree relatives, your patient is at risk of having inherited a familial variant that predisposes them to certain cancers. Referral to clinical genetics services should be considered regardless of the patient’s gender.
Lynch syndrome is an inherited colorectal cancer condition that confers a high risk of developing other cancers. It is essential to identify the causative gene variant before making management recommendations.