Whole Genome Sequencing in Cancer Clinics

Ken Chen,Funda Meric-Bernstam

doi:10.1016/j.ebiom.2014.12.007

Ken Chen, Funda Meric-Bernstam

Open Access

https://doi.org/10.1016/j.ebiom.2014.12.007

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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

Introduction

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.

Results

Conclusion