What criteria should I use to identify patients who may benefit from genetic testing for inherited cancer syndromes?

Criteria to identify patients who may benefit from genetic testing for inherited cancer syndromes include:

• Having a first-degree relative diagnosed with ovarian cancer or breast cancer, especially if diagnosed at a young age (under 50 or 60 years depending on context) ¹,².
• Having a second-degree relative with ovarian cancer, including cases with an unaffected intervening blood relative ¹.
• Personal diagnosis of ovarian cancer types associated with inherited risk, such as invasive epithelial ovarian cancer, ovarian Sertoli–Leydig cell tumour, small cell carcinoma of the ovary hypercalcaemic type, and others, if not previously genetically tested ¹.
• Families with multiple affected relatives, including bilateral breast cancer, male breast cancer, or multiple relatives diagnosed at younger ages, or complicated patterns of multiple cancers at a young age ².
• A calculated mutation carrier probability of 10% or greater for BRCA1 and BRCA2 mutations, assessed by validated tools such as the Manchester scoring system, CanRisk (BOADICEA), or BRCAPRO ¹,².
• Individuals from at-risk populations or identified through cascade testing ¹.
• People with no personal history of cancer but with an affected relative available for testing, or if no affected relative is available, if their mutation carrier probability is 10% or more ².
• Consideration of other risk factors such as Jewish ancestry, sarcoma in a relative under 45 years, glioma or childhood adrenal cortical carcinomas, and very strong paternal family history ².

Referral for genetic counselling and testing should be made when these criteria are met, and testing should be preceded by appropriate counselling to discuss risks, benefits, and implications for the individual and family ¹,².