Study Points Toward Genes That Could Indicate Risk For Aggressive Breast Cancer


Young woman  doctor holding a tablet pcA new study from the Mayo Clinic published August 7 2018 in the Journal of the National Cancer Institute presents some promising new information on the genetics of a particularly aggressive form of breast cancer.

The paper focuses on triple-negative breast cancer, a rare but serious type which makes up 15% of breast cancer in Caucasian cases and 35% in the African-American cases. Dr. Fergus Couch, leader of the study, particularly wanted to look into triple-negative as it has a poor five-year survival rate and a high chance of reoccurrence. So why is it called triple-negative? Estrogen, progesterone, and the human epidermal growth factor receptor-negative (HER-2) gene (the three most common tumor growth indicators) aren’t present in the triple-negative tumors. Treatment and tracking of the cancerous activity becomes very difficult.

To see what women’s risk factors are for this rare cancer, Dr. Couch and his team studied the genes of 11,000 women with triple-negative diagnoses. The findings? Mutations in the BARD1, BRCA1, BRCA2, PALB2, and RAD51D genes showed a slightly increased risk for triple-negative breast cancer, but defects in genes BRIP1 and RAD51C correlated with an even higher lifetime risk.

These findings could carry some surprising side effects. Casual genetic testing with kits such as 23andMe and AncestryDNA are already quite mainstream, but with more advancement in genetic testing for diseases such as cancers, we may see an uptick in genetic testing as a medical standard. Gene therapy is a field in its infancy that will likely take Dr. Couch’s study into its important records. Preventative procedures may rise in number and extremity as well.

While there are many reasons breast augmentation procedures occur, a fair number of the 290,467 procedures performed in 2016 were a result of breast cancer. Breast augmentation after a double or partial mastectomy due to tumor removal is not unheard of, but now this same procedure is commonly occurring even without cancer in sight.

With a recent spotlight on early screening and preventative genetic testing, more women are considering preventative measures as large as a double mastectomy even before cancer occurs. This is called a prophylactic mastectomy. Probably the most famous case of this occurring concerns actress and director Angelina Jolie, who discovered she carried the same BRCA1 gene mutation as her mother who had passed away after fighting ovarian cancer. Jolie underwent a prophylactic double mastectomy procedure followed by breast reconstruction, which she publicly addressed in a 2013 personal essay in the New York Times. Since Jolie’s candid statement about her preventative experience, many other women (celebrity and otherwise) have been empowered to share their stories as well.

As an example of society changing its tune on elective surgeries, around 60% of breast cancer survivors today elect to undergo reconstructive breast surgery, compared to around back 20% in 1998. Look out for studies that will surely delve into the effect of genetic testing on body augmentation in the future.

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