CHEK2 molecular manuscript

This study investigated the molecular landscape of 17 tumors from 9 individuals with biallelic germline pathogenic variants in CHEK2. Tumors included breast and non-breast cancers, and WES and sWGS bam files from the tumors are included in this submission. WES data was aligned to GRCh37 and sWGS data to GRCh38.

Type: Cancer Genomics
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD50000000112	WES data of 17 tumors from 9 individuals that have biallelic germline CHEK2 pathogenic variants. Shallow whole genome sequencing files from 16 tumors samples from 9 individuals with germline biallleic pathogenic variants in CHEK2.	Illumina NovaSeq 6000	17

Publications	Citations
The genomic landscape of breast and non-breast cancers from individuals with germline CHEK2 deficiency. Hinić S, van der Post RS, Vreede L, Schuurs-Hoeijmakers J, Koene S, Jansen EAM, Bervoets-Metge F, Mensenkamp AR, Hoogerbrugge N, Ligtenberg MJL, de Voer RM. JNCI Cancer Spectr 8: 2024 pkae044	1