Research conducted at Jerusalem’s Shaare Zedek Medical Center has revealed the importance of early screening of specific genetic mutations related to breast cancer.
The study showed that only two out of 42 women who went into their breast cancer diagnoses knowing they were carriers of the BRCA 1 or BRCA 2 mutations died from the disease, compared to 16 out of 63 who died when they found out they were carriers after their diagnoses.
Professor Ephrat Levy Lahad, Director of the Fuld Department of Medical Genetics at Shaare Zedek, stressed the significance of the findings: “It’s important that every woman knows if she is a carrier of these mutations. By having this knowledge, we can carefully monitor the woman’s overall health and perform additional monitoring leading to earlier diagnosis which can be nothing less than life-saving.”
It has already been well-established that women carrying the BRCA 1 and 2 genetic mutations have a significantly increased risk for both breast and ovarian cancers.
This study, conducted by Professor Levy-Lahad and Dr. Tal Hadar of the Breast Surgery Unit at Shaare Zedek and published in the journal JAMA Oncology, showed that women who contracted breast cancer already knowing they were carriers, were diagnosed earlier on in the progression of the disease, fared better and required less aggressive treatment.
Among the most significant findings of the research was data showing that women aware of their genetic predisposition to the disease had a significantly higher survival rate. Five years after diagnosis, 94 percent of these women were still alive as compared to 78 percent in the group of those who only found out after the diagnosis.
The study surveyed 105 women who suffered from breast cancer and were treated at Shaare Zedek between 2005 and 2016. 42 of the women knew they were BRCA 1/2 carriers while the remaining 63 only found out upon diagnosis. The women in the study were all generally in the same age bracket of around 50 years old.
Of those aware of their genetic risks, over 85 percent were able to identify their cancers while the tumor growth was still limited and described as stage 1. In the second group of women who weren’t aware, 52 percent were diagnosed at a later stage where the cancer was described as Stage 2 or further advanced.
Early diagnosis translates to a reduction in the number of women requiring chemotherapy, which is known to bring within it numerous side affects and complications. Over fifty of the women who came into the diagnosis knowing they were carriers did not require any chemotherapy. These women were also better positioned to weigh various options in terms of surgical procedures to address their conditions.
Based on the study, the hospital advises women that there is a clear correlation between being aware of specific genetic risks and the ability to proactively address cancer diagnoses, and in many cases this information can be life-saving.