EPHB2 germline variants in patients with colorectal cancer or hyperplastic polyposis.

ABSTRACT:

Background

Ephrin receptor B2 (EPHB2) has recently been proposed as a novel tumor suppressor gene in colorectal cancer (CRC). Inactivation of the gene has been shown to correlate with progression of colorectal tumorigenesis, and somatic mutations have been reported in both colorectal and prostate tumors.

Methods

Here we have analyzed the EPHB2 gene for germline alterations in 101 individuals either with 1) CRC and a personal or family history of prostate cancer (PC), or 2) intestinal hyperplastic polyposis (HPP), a condition associated with malignant degeneration such as serrated adenoma and CRC.

Results

Four previously unknown missense alterations were observed, which may be associated with the disease phenotype. Two of the changes, I361V and R568W, were identified i

SUBMITTER: Kokko A 

PROVIDER: S-EPMC1513590 | biostudies-literature | 2006 Jun

REPOSITORIES: biostudies-literature