The role of screening MRI in the era of next generation sequencing and moderate-risk genetic mutations

Abstract

With the advent of next-generation sequencing, the ability to rapidly analyze numerous genes simultaneously has led to the creation of large cancer gene panels. Some of these genes, like BRCA1 and BRCA2, have been heavily researched and have well-established management guidelines. Other more newly established genes, like ATM, CHEK2, and PALB2, have previously had less robust research surrounding them which has limited the ability to create accurate risk estimates. With their inclusion on gene panels, there has been more pressure to produce management guidelines for patients discovered to carry pathogenic variants in these genes. For known high-risk genes, it is recommended for breast magnetic resonance imaging (MRI) and mammogram to be offered annually. This combination has been proven to be more effective at detecting breast cancer than mammography alone, with a combined sensitivity of 94% (Leach et al. in Lancet 365(9473):1769–1778, 2005). Women with a lifetime risk of breast cancer of 20% and higher have been recommended to have both breast MRI and mammography performed (Saslow et al. in CA Cancer J Clin 57(2):75–89, 2007). For women with pathogenic variants detected in moderate risk genes with lifetime breast cancer risks of at least 20%, breast MRI should be offered as part of their management. For more newly discovered genes with suspected associated risks at or above 20%, the use of breast MRI should be considered for their management as well.

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