Additional germline findings from a tumor profiling program.

ABSTRACT:

Background

Matched tumor-normal sequencing, applied in precision cancer medicine, can identify unidentified germline Medically Actionable Variants (gMAVS) in cancer predisposition genes. We report patient preferences for the return of additional germline results, and describe various gMAV scenarios delivered through a clinical genetics service.

Methods

Tumor profiling was offered to 1960 advanced cancer patients, of which 1556 underwent tumor-normal sequencing with multigene hotspot panels containing 20 cancer predisposition genes. All patients were provided with an IRB-approved consent for return of additional gMAVs.

Results

Of the whole cohort 94% of patients consented to be informed of additional germline results and 5% declined, with no statistically significant d

SUBMITTER: Stjepanovic N 

PROVIDER: S-EPMC6085686 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature