Next Generation Sequencing: Full gene sequencing of BRCA1 and BRCA2

With the increasing use of new sequencing technologies such as NGS, the number of detected variants in BRCA1 and BRCA2 are increasing fast. As a consequence, the absolute numbers of Variants of Uncertain Significance (VUS) are also increasing. It will eventually be possible to classify these variants as more studies are completed, but for now the uncertainty concerning their clinical importance remains. When one or more VUS are detected in patients undergoing genetic testing of BRCA1 and BRCA2, counseling is difficult.

This paper describes current initiatives to classify and interpret VUS in BRCA1 and BRCA2, and how laboratories can contribute to these efforts and ultimately improve the counseling of tested patients.

• The role of BRCA1 and BRCA2 in Cancer.
• The impact of NGS technologies on the number of detected variants In BRCA1 and BRCA2.
• Current initiatives to classify and interpret VUS in BRCA1 and BRCA 2.