Integrated genomic analysis suggests MLL3 is a novel candidate susceptibility gene for familial nasopharyngeal carcinoma.

ABSTRACT:

Background

Little is known about genetic factors associated with nasopharyngeal carcinoma (NPC). To gain insight into NPC etiology, we performed whole exome sequencing on germline and tumor DNA from three closely related family members with NPC.

Methods

The family was ascertained through the Pediatric Familial Cancer Clinic at The University of Chicago (Chicago, IL). The diagnosis of NPC was confirmed pathologically for each individual. For each sample sequenced, 97.3% of the exome was covered at 5×, with an average depth of 44×. Candidate germline and somatic variants associated with NPC were identified and prioritized using a custom pipeline.

Results

We discovered 72 rare deleterious germline variants in 56 genes shared by all three individuals. Of these, only three

SUBMITTER: Sasaki MM 

PROVIDER: S-EPMC4526396 | biostudies-literature | 2015 Aug

REPOSITORIES: biostudies-literature