Scottish referral guidelines for suspected cancer: quick reference guide

Assessing Genetic Risk of Cancer

Cancer may occur as a result of a genetic predisposition particularly if the affected individual is young or there are several cases in the family. Referral guidelines have been developed for breast, ovarian and colorectal cancer and are listed below.

Carriers of known gene mutations and their first degree relatives will be at higher risk.

Where there is concern in asymptomatic patients, a detailed family history should be taken and patients should be referred to the Regional Cancer Genetics Unit for a comprehensive risk assessment and screening as appropriate.

Breast Cancer

• One 1st degree relative with breast cancer diagnosed age <40.
• One 1st degree relative with male breast cancer at any age.
• Two 1st or one 1st and one 2nd degree relative with breast cancer age <60 or ovarian cancer at any age.
• Three 1st or 2nd degree relatives with breast or ovarian cancer on the same side of the family where one is a 1st degree relative of the patient or patient's father.
• Bilateral breast cancer is the equivalent of two affected relatives.

Ovarian Cancer

• Two or more 1st or 2nd degree relatives at any age.
• Two 1st or one 1st and one 2nd degree relative with ovarian cancer at any age or breast cancer age <50.
• One ovarian and two breast cancers diagnosed <60 on same side of family in 1st degree relatives or 2nd degree via a male.
• Two 1st or 2nd degree relatives with colorectal cancer and an endometrial cancer and one ovarian cancer.
• One affected relative with ovarian cancer and hereditary non-polyposis colon cancer.

Colorectal Cancer

• One affected 1st degree relative diagnosed <50.
• Two affected individuals who are 1st degree relatives of each other, one of whom is a first degree relative of the patient.
• Three relatives with colorectal or endometrial cancer who are 1st degree relatives of each other and one a 1st degree relative of the patient.