Impact of genomic and epigenomic alterations of multigene on a multicancer pedigree.

ABSTRACT:

Background

Germline mutations have been identified in a small number of hereditary cancers, but the genetic predisposition for many familial cancers remains to be elucidated.

Methods

This study identified a Chinese pedigree that presented different cancers (breast cancer, BRCA; adenocarcinoma of the esophagogastric junction, AEG; and B-cell acute lymphoblastic leukemia, B-ALL) in each of the three generations. Whole-genome sequencing and whole-exome sequencing were performed on peripheral blood or bone marrow and cancer biopsy samples. Whole-genome bisulfite sequencing was conducted on the monozygotic twin brothers, one of whom developed B-ALL.

Results

According to the ACMG guidelines, bioinformatic analysis of the genome sequencing revealed 20 germline mutations, par

SUBMITTER: Gao J 

PROVIDER: S-EPMC11226725 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature