Founder pathogenic variants in colorectal neoplasia susceptibility genes in Ashkenazi Jews undergoing colonoscopy.

ABSTRACT:

Background

Colorectal neoplasia is one of the most common tumors affecting Western populations.

Methods

In this study we used a custom amplicon sequencing platform and an in-house bioinformatic pipeline to study constitutional DNA from two different case series of Ashkenazi Jews undergoing colonoscopy (n = 765). The first series all had pathologically confirmed colorectal adenomas and/or carcinoma. The second series consisted of persons who had undergone a colonoscopy within the five years prior to ascertainment, regardless of findings. Ninety-one percent of all patients were asymptomatic at the time of colonoscopy.

Results

In the first group (n = 438), we identified 65 founder variants (56 in APC, 2 in GREM1, 3 in MSH2 and 4 in BLM). In the second group (n = 327), th

SUBMITTER: Matis T 

PROVIDER: S-EPMC11523938 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature