October is Breast Cancer Awareness Month! We, the Center for Excellence in Women’s Health Care, consider breast health to be just as important as gynecological health. And as research continues each year, we learn more and more about how to diagnose breast cancer earlier and earlier. And, as you know, the earlier the diagnosis, the better.
A few years ago, celebrity Angelina Jolie made headlines when she opted for a double mastectomy after learning that she carries a very specific gene mutation linked to breast cancer, BRCA1 and/or BRCA2. At the time, these two specific gene mutations were thought to cause most of the breast cancer cases out there. Now, three years later, a new study of almost 28,000 breast cancer cases has shown only half were linked to the previously mentioned mutations of BRCA1 and BRCA2 genes. About 40% of the cases were caused by mutations of other genes like PALB2, CHEK2, and BAARD1. And about 10% of the breast cancer cases were cause by mutations of genes that were not previously considered to be associated with breast cancer at all like SMAD4 and APC.
Although the study was conducted by Sharma (1), my information comes from a company called Myriad Genetics. They help develop questionnaires and tests that screen for hereditary risk and genetic mutations of the genes mentioned above. Many doctors use their questionnaires in their offices. For more information about this company, visit Myriad Pro.
Source: (1) Sharma et al. Spectrum of Mutations Identified in a 25-gene Hereditary Cancer Panel for Patients with Breast Cancer. Presented at ESHG 2015.