Interaction of germline variants in a family with a history of early-onset clear cell renal cell carcinoma.

ABSTRACT:

Background

Identification of genetic factors causing predisposition to renal cell carcinoma has helped improve screening, early detection, and patient survival.

Methods

We report the characterization of a proband with renal and thyroid cancers and a family history of renal and other cancers by whole-exome sequencing (WES), coupled with WES analysis of germline DNA from additional affected and unaffected family members.

Results

This work identified multiple predicted protein-damaging variants relevant to the pattern of inherited cancer risk. Among these, the proband and an affected brother each had a heterozygous Ala45Thr variant in SDHA, a component of the succinate dehydrogenase (SDH) complex. SDH defects are associated with mitochondrial disorders and risk for vario

SUBMITTER: Nicolas E 

PROVIDER: S-EPMC6418363 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature