Deoxyribonucleic acid, DNA, is the code for designing our bodies. With that in mind, researchers were able to determine the risk of ovarian or breast cancer based on the mutation type, function, and nucleotide position on the BRCA1 and BRCA2 gene as risks varied by the type and location of BRCA1&2 mutations.
Researchers believe this data can potentially help patients and doctors make better cancer prevention decisions for each individual with the BRCA1 and BRCA2 mutations by permitting development of new specific therapy, designing targeted drugs, and identify those at risk.
Dr. Francis Collins stated, “While the new findings represents encouraging progress towards more precise prevention of cancer among BRCA1/2 carriers, researchers caution that much follow-up work is needed before such information can be used to guide the very difficult decisions currently faced by such women. Ultimately, our hope is not only to spare women with BRCA1/2 who are at low risk of cancer from needless surgery, but to use this newfound knowledge to develop drugs and other less-invasive strategies for cancer prevention in high-risk women.“
BRCA1 and BRCA2 are genes that produce proteins to suppress tumors and repair damaged DNA. Mutations in these genes create instability in the cell which increases the risk of cancer. Inherited mutations increase the risk of female breast and ovarian cancers, and are associated with other cancer risks; reproductive tissues in females, prostate cancer in males, pancreatic cancer, and other child complications when the gene is inherited from both parents.
With 12% of women developing breast cancer in the general population, 55 to 65 percent inherited the BRCA1 mutations (11 to 17% inherited BRCA2 mutation) will develop cancer by the age of 70 years.
Specific ethnic groups are more at risk, Ashkenazi Jewish, Norwegian, Dutch, and Icelandic due to higher rates of harmful BRCA1 and BRCA2 mutations. Although rare in the general population, DNA testing of blood or saliva can be tested for mutations for those most at risk. If you have a family history of cancer, regardless of ethnicity, you should consider being tested for a harmful mutation in one of these genes. (Other gene mutations that are associated with higher risk for developing breast cancer, TP53, PTEN, STK11, CDH1)
October is Breast Cancer Awareness month, the annual campaign to help increase the awareness of this disease that occurs in women and men. With early detection and screening, breast cancer can become a thing of the past. For more information and resources on breast cancer, visit the National Breast Cancer Foundation