How should I assess a patient with a family history of breast cancer for referral to a genetic service?

Assess a patient with a family history of breast cancer by taking a detailed family history, including first- and second-degree relatives, to identify patterns of cancer diagnoses, age at diagnosis, and specific cancer types such as bilateral breast, male breast, or ovarian cancer, as well as other early-onset tumours and ethnic background, including Jewish ancestry ¹.

Determine if the family history meets criteria for referral to secondary care or a specialist genetic service, such as having one first-degree relative diagnosed with breast cancer under age 40, or multiple relatives diagnosed at any age, or specific patterns like bilateral or male breast cancer, ovarian cancer, or other associated cancers ¹.

Consider additional risk factors such as bilateral breast cancer, male breast cancer, ovarian cancer, Jewish ancestry, sarcoma in a relative under 45, glioma, adrenal cortical carcinomas, or complex cancer patterns at a young age, which warrant specialist advice ¹.

If the family history suggests a high risk or uncertainty about the need for referral, refer the patient to a specialist genetics service for comprehensive risk assessment and genetic counselling ².