BRCA1 and BRCA2 variants of uncertain significance. Part two: medical management.

摘要

In Part One we presented three cases of women with a personal and strong family history of breast cancer, all of whom were tested for BRCA mutations and found to have variants of uncertain significance (VUS), one of which was classified as a polymorphism. While polymorphic variants are typically accepted as being harmless changes that are not deleterious, these findings, along "with the presence of VUS, can nonetheless be unsettling for both clinician and patient when the patient has a personal and/or family history that fits the characteristics for a hereditary cancer syndrome. We asked cancer genetics experts for their guidance on risk assessment and presented their responses in Part One.