Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol.

ABSTRACT:

Background

Next-generation sequencing in cancer research may reveal germline variants of clinical significance. We report patient preferences for return of results and the prevalence of incidental pathogenic germline variants (PGVs).

Patients and methods

Targeted exome sequencing of 202 genes was carried out in 1000 advanced cancers using tumor and normal DNA in a research laboratory. Pathogenic variants in 18 genes, recommended for return by The American College of Medical Genetics and Genomics, as well as PALB2, were considered actionable. Patient preferences of return of incidental germline results were collected. Return of results was initiated with genetic counseling and repeat CLIA testing.

Results

Of the 1000 patients who underwent sequencing, 43 had likely PGV

SUBMITTER: Meric-Bernstam F 

PROVIDER: S-EPMC4843184 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature