Evaluation of the colorectal cancer risk conferred by rare UNC5C alleles.

ABSTRACT:

Aim

To evaluate the risk associated with variants of the UNC5C gene recently suspected to predispose to familial colorectal cancer (CRC).

Methods

We screened patients with familial CRC forms as well as patients with sporadic CRCs. In a first time, we analyzed exon 11 of the UNC5C gene in 120 unrelated patients with suspected hereditary CRC, 58 patients with suspected Lynch-associated cancer or polyposis, and 132 index cases of Lynch syndrome families with a characterized mutation in a DNA mismatch repair (MMR). Next, 1023 patients with sporadic CRC and 1121 healthy individuals were screened for the variants identified in patients with familial cancer.

Results

Of 120 patients with familial CRC of unknown etiology, one carried the previously reported mis-sense mutation

SUBMITTER: Kury S 

PROVIDER: S-EPMC3886009 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature