Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1.

ABSTRACT:

Background

The role of germline and somatic SMARCB1 gene mutations in malignant rhabdoid tumour (MRT) predisposition is well known. Germline SMARCB1 mutations have also recently been identified in a subset of individuals with schwannomatosis. Surprisingly, MRT predisposition and schwannomatosis have never been reported to co-occur in a family. The correlation between genotype and phenotype for mutations in SMARCB1 has not been determined.

Results

We have identified a germline 2631 bp duplication that includes exon 6 of SMARCB1 in a unique family with a four generation history of MRT predisposition and schwannomatosis. This duplication segregates with disease in individuals affected with both conditions, linking MRT predisposition and schwannomatosis as components of the same

SUBMITTER: Swensen JJ 

PROVIDER: S-EPMC2843150 | biostudies-literature | 2009 Jan

REPOSITORIES: biostudies-literature