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CoBrCa 2017: Genetic Testing for Women With Breast Cancer

By: Cordi Craig
Posted: Thursday, November 2, 2017

At a plenary session of the 2017 World Congress on Controversies in Breast Cancer (CoBrCa) in Tokyo, Japan, Arlene Chan, MBBS FRACP MMed, of the Breast Cancer Research Centre, Western Australia, argued in favor of the liberal use of genetic testing in the medical community for preventative health, financial, and safety reasons. “The primary purpose of genetic testing in women for the presence of a breast cancer–susceptible gene is ultimately to enable preventative interventions to be undertaken and avert an invasive breast cancer diagnosis,” she stated.

Advanced genetic testing has identified the presence of breast cancer–susceptible genes in addition to BRCA1 and BRCA2, such as the less common high-penetrance genes (PTEN, CDH1, TP53, and STK11) and the moderate-penetrance genes (PALPB2, CHEK2, ATM, RAD51C, and RAD51D). Dr. Chan continued that rapid technologic development in genetic testing has made it more cost-effective and accessible over the past 2 decades, allowing for broader use among the general population. Finally, she added, there is no evidence to suggest psychological harm affiliated with genetic testing in younger women without a family history. Women who are confirmed as carriers of these genetic mutations now have opportunities to undergo risk-reducing interventions.