Germline variation networks in the PI3K/AKT pathway corresponding to familial high-incidence lung cancer pedigrees.

ABSTRACT:

Background

There were scarcely germline variants of familial lung cancer (LC) identified. We conducted an study with whole-exome sequencing of pedigrees with familial lung cancer to analyze the potential genetic susceptibility.

Methods

Probands with the highest hereditary background were identified by our large-scale epidemiological study and five ones were enrolled as a learning set. The germline SNPs (single-nucleotide polymorphisms) of other five similar probands, four healthy individuals in the formerly pedigrees and three patients with sporadic LC were used as a validation set, controlled by three healthy individuals without family history of any cancer. The network of mutated genes was generated using STRING-DB and visualized using Cytoscape.

Results

Specific an

SUBMITTER: Lin H 

PROVIDER: S-EPMC7724858 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature