Low frequency of POLD1 and POLE exonuclease domain variants in patients with multiple colorectal polyps.

ABSTRACT:

Background

Germline mutations affecting the exonuclease domains of POLE and POLD1 predispose to colorectal adenomas and carcinoma. Here, we aimed to screen the exonuclease domains to find the genetic causes of multiple colorectal polyps in unexplained cases.

Methods

Using a custom next-generation sequencing panel, we sequenced the exonuclease domains of POLE and POLD1 in 332 index patients diagnosed with multiple colorectal polyps without germline alteration in colorectal polyposis predisposing genes.

Results

We identified two variants of unknown significance. One germline POLD1 c.961G>A, p.(Gly321Ser) variant was found in two cases. The first patient was diagnosed with multiple polyps at age 35 and colorectal cancer (CRC) at age 37, with no known family history of CR

SUBMITTER: Elsayed FA 

PROVIDER: S-EPMC6465667 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature