Genetic Breast Carcinoma

Breast cancer is one of the most common cancers in women. Prevention and screening have become very important, even more so in women who present with a significant family history of breast cancer. Timely treatment and early detection can be helpful in slowing and in many cases stopping the course of breast cancer. Roughly 5-10% of breast carcinomas are related to a genetic susceptibility. Of these, almost 40% are related to genetic mutations, in the genes BRCA1 and BRCA2. Genetic testing can be offered to individuals that belong to high-risk families in which the probability that there is a germline mutation in a BRCA gene is high and therefore, cancer is likely to present at some point in such a highly penetrant genetic predisposition.

Would you want to know if you or your children were at risk for breast cancer? The answer to this tough question depends on if you are the type of person that is more comfortable knowing something about yourself rather than not knowing or if you know yourself well enough to know it would cause you nothing but high distress and fear.

BRCA1 and BRCA2 are genes that some individuals carry that can increase their risk for breast cancer. The breast cancer gene BRCA1 is known to be highly penetrant; this means that eventually it shows up in 85 out of every 100 carriers. However, the gene's activity is affected by other genes that are carried within the body. Lifestyle and environmental exposure to other carcinogens are other variables. In summary, the future is hard to predict, however, knowledge and prevention are great tools.

This case study, which will be free-of-charge on the Learning Center, illustrates some of the classic mammographic and sonographic features of breast malignancy in women with a significant family history of breast cancer.