Identification of a Novel Pathogenic Germline KDR Variant in Melanoma.

ABSTRACT:

Purpose

The application of pan-cancer next-generation sequencing panels in the clinical setting has facilitated the identification of low frequency somatic mutations and the testing of new therapies in solid tumors using the "basket trial" scheme. However, little consideration has been given to the relevance of nonsynonymous germline variants, which are likely to be uncovered in tumors and germline and which may be relevant to prognostication and prediction of treatment response.

Experimental design

We analyzed matched tumor and normal DNA from 34 melanoma patients using an Ion Torrent cancer-associated gene panel. We elected to study the germline variant Q472H in the kinase insert domain receptor (KDR), which was identified in 35% of melanoma patients in both a pilot and an

SUBMITTER: Silva IP 

PROVIDER: S-EPMC4867268 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature