Rare germline chromosome 1 duplication identified in young male with colon cancer: a case report investigating causality.

ABSTRACT:

Background

The occurrence of colorectal cancer (CRC) is increasing among young adults, but the etiology is still largely unknown. In addition to germline monogenetic variants also polygenic risk scores (PRS) have been proven to correctly estimate the risk of CRC.

Case description

We present a 24-year-old male with disseminated colon cancer who carried a germline duplication on chromosome 1 spanning 200 kb and covering CD101, TTF2, MIR942, TRIM45, and parts of PTGFRN and VTCN1. The duplication was located in tandem. A similar duplication was previously reported in a family with CRC among two brothers aged 52 and 61 years old at diagnosis. Particularly, MIR942 was an interesting finding as it is involved in the regulation of the Wnt signaling pathwa

SUBMITTER: Byrjalsen A 

PROVIDER: S-EPMC11565109 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature