Allelic Imbalance and Chromothripsis Lead to Diversity in Japanese Tumor Genomes With Whole-Genome Duplication.

ABSTRACT: Whole-genome analyses have revealed that large-scale structural variations (SVs) such as whole-genome duplication (WGD) occur early in the development of many cancers. However, the diversity of chromosomal abnormalities within tumors before and after WGD remains poorly understood. Here, we analyzed various types of Japanese tumor genomes via whole-genome sequencing and examined the diversity of WGD by focusing on large SVs at the chromosomal level. WGD was detected in 52% of cases, while the frequency of chromothripsis (CT) was 20%. Although aneuploidy via deletion of chromosome arms was common in many cancers, in rare ovarian cancers, all chromosomes were near-haploidy before WGD. Minor allele analysis revealed that many non-mutated ohnolog genes drifted down chromosome arms after WGD and

SUBMITTER: Hatakeyama K 

PROVIDER: S-EPMC12485667 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature