Screening Of Hereditary Breast Cancer And Ovarian Cancer

What is Breast Cancer Analysis

Approximately 5%~10% of breast cancers and 10%~15% of ovarian cancers are associated with hereditary factors [1]. 80% of the patients with the family history of breast cancer and/or ovarian cancer carry the BRCA1/2 mutation. Individuals with the BRCA1 mutation substantially increase the risk for developing breast and ovarian cancer, often before the age of 50 (Figure 1).

Recommendations & Prevention For Cancer Screening?

The NCCN (National Comprehensive Cancer Network) has recommendations for cancer screening and prevention for women who have BRCA gene mutations. These options include:
  • Yearly mammograms and breast MRI for breast cancer screening beginning at age 25
  • Medications that can reduce the risk of breast and ovarian cancer
  • Surgical options with the goal of preventing cancer before it even occurs
It is important that the women in your family know whether or not they carry a BRCA gene mutation as their medical care may change dramatically. If you have a BRCA gene mutation, other relatives in your extended family may also be at risk including grandparents, aunts, uncles, nieces, and nephews.

Who Is At Risk?

Families at increased risk of having a BRCA1 or BRCA2 mutation may have:
  • Several relatives with breast cancer, with some women diagnosed before the age of 50
  • Relatives diagnosed with more than one primary breast cancer
  • Ovarian cancer in one or more women
  • Both breast and ovarian cancer diagnosed in the same woman
  • A man with breast cancer
  • Ashkenazi Jewish (Eastern/Central European) heritage

Clinical Significance

Multi-centered clinic studies in Europe and America showed that the morbidity of breast cancer and ovarian cancer caused by the BRCA1/2 mutation can be reduced as much as 90% by periodic screening, chemo- prevention, prophylactic mastectomy (PM) and oophorectomy [2]. Therefore, detection of the BRCA1/2 mutation can be used to effectively predict the hereditary risk of developing these two cancers).