Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50.

ABSTRACT:

Background

Patients with Fanconi anemia (FA) have an increased risk for head and neck squamous cell carcinoma (HNSCC). The authors sought to determine the prevalence of undiagnosed FA and FA carriers among patients with HNSCC as well as an age cutoff for FA genetic screening.

Methods

Germline DNA samples from 417 patients with HNSCC aged <50 years were screened for sequence variants by targeted next-generation sequencing of the entire length of 16 FA genes.

Results

The sequence revealed 194 FA gene variants in 185 patients (44%). The variant spectrum was comprised of 183 nonsynonymous point mutations, 9 indels, 1 large deletion, and 1 synonymous variant that was predicted to effect splicing. One hundred eight patients (26%) had at least 1 rare variant that was predict

SUBMITTER: Chandrasekharappa SC 

PROVIDER: S-EPMC5853120 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature