Prevalence and spectrum of cancer predisposition germline mutations in young patients with the common late-onset cancers.

ABSTRACT:

Background

Pathogenic germline variants (PGVs) can play a vital role in the oncogenesis process in carriers. Previous studies have recognized that PGVs contribute to early onset of tumorigenesis in certain cancer types, for example, colorectal cancer and breast cancer. However, the reported prevalence data of cancer-associated PGVs were highly inconsistent due to nonuniform patient cohorts, sequencing methods, and prominent difficulties in pathogenicity interpretation of variants. In addition to the above difficulties, due to the rarity of cases, the prevalence of cancer PGV carriers in young cancer patients affected by late-onset cancer types has not been comprehensively evaluated to date.

Methods

A total of 131 young cancer patients (1-29 years old at diagnosis) were enrol

SUBMITTER: Hao S 

PROVIDER: S-EPMC10524041 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature