[Who must be referred for genetic counseling?]

Area of Science:

• Oncogenetics
• Cancer Genetics
• Hereditary Cancer Syndromes

Background:

• A family history of breast and/or ovarian cancer is a significant risk factor for developing these cancers.
• Identifying women at high risk is crucial for early detection and prevention strategies.

Purpose of the Study:

• To outline the criteria for referral for genetic counseling and testing in women with a family history of breast and/or ovarian cancer.
• To emphasize the role of oncogenetics specialists in risk assessment and genetic testing indications.

Main Methods:

• Detailed family history analysis by an oncogenetics specialist.
• Application of well-defined criteria for genetic testing in Switzerland.
• Mutation detection in predisposing genes such as BRCA1 and BRCA2 for high-risk women.

Main Results:

• Family history analysis effectively identifies women who meet criteria for genetic testing.
• Mutation detection in BRCA1 or BRCA2 confirms high-risk status in identified women.
• Established criteria ensure appropriate referral pathways for genetic counseling.

Conclusions:

• Referral for genetic counseling is essential for women with a significant family history of breast and/or ovarian cancer.
• Genetic testing, guided by specialist assessment and defined criteria, is key to identifying mutation carriers.
• Management of mutation carriers should align with international guidelines for hereditary cancer syndromes.