Genetic cancer syndromes

Screening programmes are targeted at a population-based level and are intended for women who are at average risk of the condition screened. Women at high risk of developing cancers need a different approach- this may be an increased frequency of screening for some (e.g. women who are immunocompromised are recommended to have yearly smears) or may even involve prophylactic treatment. We will use BRCA as our example of a genetic cancer syndrome posing challenges for screening, but there are many others relevant to gynaecological cancers. Do you know of any other relevant syndromes? 

Look at this table which shows the lifetime risk for breast and ovarian cancers for women with BRCA mutations:

You can see that these lifetime risks are much higher than that of the average population- 1 in 9 women in the general population will be diagnosed with breast cancer in their lives! We might suspect that a woman may have a BRCA gene if she has risk factors in her personal or family history such as: 

• Early onset breast cancer (<45 years) 
• Two primary breast cancers in one person 
• Breast and ovarian cancers in the same person 
• Breast cancer and 
• More than one family member with breast cancer aged
• More than one family member with ovarian cancer at any age 
• More than two family members with breast cancer at any age 
• Breast or ovarian cancer and Ashkenazi Jewish ancestry 
• Family history of male breast cancer 
• Ovarian cancer and a family history of breast and ovarian cancer 
• Being a woman in a family that meet any of the above 

Unfortunately, for women with BRCA mutations, screening with mammography is not as good as for the average woman, and there is no benefit to screening pelvic ultrasounds and Ca125 tests either. Risk-reducing surgery is the recommended approach- a bilateral mastectomy and bilateral salpingo-oophorectomy. This reduces the risk of developing breast cancer by 90% and the risk of developing ovarian cancer by 80-90% if done early.