Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic
- Foley, Samantha B.
- Rios, Jonathan J.
- Mgbemena, Victoria E.
- Robinson, Linda S.
- Hampel, Heather L.
- Toland, Amanda E.
- Durham, Leslie
- Ross, Theodora S.
DOIAbstract
AbstractDespite the potential of whole-genome sequencing (WGS) to improve patient diagnosis and care, the empirical value of WGS in the cancer genetics clinic is unknown. We performed WGS on members of two cohorts of cancer genetics patients: those with BRCA1/2 mutations (n=176) and those without (n=82). Initial analysis of potentially pathogenic variants (PPVs, defined as nonsynonymous variants with allele frequency<1% in ESP6500) in 163 clinically-relevant genes suggested that WGS will provide useful clinical results. This is despite the fact that a majority of PPVs were novel missense variants likely to be classified as variants of unknown significance (VUS). Furthermore, previously reported pathogenic missense variants did not always as...
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