Article
Meeting the challenges of interpreting variants of unknown clinical significance in BRCA testing.
The New Zealand medical journal - 7 Aug 2015
Lattimore Vanessa, Currie Margaret, Lintott Caroline, Sullivan Jan, Robinson Bridget A, Walker Logan C
Abstract excerpt
Many BRCA1 and BRCA2 genetic mutations are known to result in an elevated breast cancer risk. Routine BRCA1/2 gene screening is offered to patients thought to have an increased risk of carrying a deleterious mutation. 5-10% of genetic tests identify a variant of unknown clinical significance (VUCS), creating significant challenges to health care providers. Recent advances in sequencing technologies allow more...
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