Germline Profiling and Molecular Characterization of Early Onset Metastatic Colorectal Cancer.

ABSTRACT:

Background

Early onset colorectal cancer (EO CRC) is a heterogeneous colorectal cancer subtype with obvious hereditary tendencies and increasing incidence. We sought to determine the susceptibility genes and molecular characteristics of EO CRC.

Methods

330 EO metastatic CRC (mCRC) (≤55 years) and 110 average-onset (AO) mCRC patients (>55 years) were enrolled. Capture-based targeted sequencing was performed on tumor tissue and paired white blood cells using a sequencing panel of 520 genes. The association between molecular alterations and overall survival (OS) was analyzed.

Results

Of the 330 EO mCRC patients, 31 carried pathogenic or likely pathogenic germline mutations, with 16 of them diagnosed with lynch syndrome. Fifteen patients had germline mutations in non-mism

SUBMITTER: Xu T 

PROVIDER: S-EPMC7604404 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature