Abstract
Whole Genome Sequencing in Cancer Clinics
Highlights
As anticipated, most of these PPVs are missense variants, the majority of which will be classified as variants of unknown significance (VUS) based on existing knowledge (Biesecker, 2012)
The missense variant PRSS1 p.N29I is previously associated with hereditary pancreatitis and subsequent pancreatic cancer
None of nine patients that carried the PRSS1-variant report any pancreatic problems. These results indicate that while whole genome sequencing (WGS) can expand the breadth of disease risk analysis, clinical interpretation of WGS results, for missense variants, requires detailed medical histories and results from extended family members to derive confident diagnoses for appropriate genetic counseling
Summary
Most of these PPVs are missense variants, the majority of which will be classified as variants of unknown significance (VUS) based on existing knowledge (Biesecker, 2012). The missense variant PRSS1 p.N29I is previously associated with hereditary pancreatitis and subsequent pancreatic cancer. None of nine patients that carried the PRSS1-variant report any pancreatic problems.
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