Patterns of CTCF and ZFHX3 Mutation and Associated Outcomes in Endometrial Cancer.

ABSTRACT:

Background

The genetic events responsible for tumor aggressiveness in endometrioid endometrial cancer (EEC) remain poorly understood. The chromosome 16q22 tumor suppressor genes CTCF and ZFHX3 are both frequently mutated in EEC, but their respective roles in outcome have not been determined.

Methods

Targeted deep sequencing of CTCF and ZFHX3 was performed for 542 EEC samples. Copy number loss (CNL) was determined using microsatellite typing of paired tumor and normal DNA and a novel Bayesian method based on variant allele frequencies of germline polymorphisms. All statistical tests were two-sided.

Results

Mutation rates for CTCF and ZFHX3 were 25.3% and 20.4%, respectively, and there was a statistically significant excess of tumors with mutation in both genes (P = .00

SUBMITTER: Walker CJ 

PROVIDER: S-EPMC4643635 | biostudies-literature | 2015 Nov

REPOSITORIES: biostudies-literature