Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma.

ABSTRACT:

Purpose

Ewing sarcoma is a small round blue cell tumor that is highly malignant and predominantly affects the adolescent and young adult population. It has long been suspected that a genetic predisposition exists for this cancer, but the germ-line genetic underpinnings of this disease have not been well established.

Methods

We performed germline variant analysis of whole-genome or whole-exome sequencing of samples from 175 patients affected by Ewing sarcoma.

Results

We discovered pathogenic or likely pathogenic germline mutations in 13.1% of our cohort. Pathogenic mutations were highly enriched for genes involved with DNA damage repair and for genes associated with cancer predisposition syndromes.

Conclusion

Our findings reported here have important clinical im

SUBMITTER: Brohl AS 

PROVIDER: S-EPMC5529247 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature