Tumor mutational landscape in individuals with CMMRD

Whole exome sequencing data from the tumors (n=16) of individuals with constitutional mismatch repair deficiency. Data was aligned to GRCh38.

Type: Exome Sequencing
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
EGAD50000000113	Whole exome sequencing data from the tumors of individuals with constitutional mismatch repair deficiency. These are 16 tumors from the bigger study of 41 tumors in total (from 17 individuals in total).	Illumina NovaSeq 6000	16

Publications	Citations
Unraveling mutagenic processes influencing the tumor mutational patterns of individuals with constitutional mismatch repair deficiency. Weijers DD, Hinić S, Kroeze E, Gorris MA, Schreibelt G, Middelkamp S, Mensenkamp AR, Bladergroen R, Verrijp K, Hoogerbrugge N, Wesseling P, van der Post RS, Loeffen JL, Gidding CE, van Kouwen MC, de Vries IJM, van Boxtel R, de Voer RM, Jongmans MC, Kuiper RP. Nat Commun 16: 2025 4459	2

Publications

Citations

Unraveling mutagenic processes influencing the tumor mutational patterns of individuals with constitutional mismatch repair deficiency.
Weijers DD, Hinić S, Kroeze E, Gorris MA, Schreibelt G, Middelkamp S, Mensenkamp AR, Bladergroen R, Verrijp K, Hoogerbrugge N, Wesseling P, van der Post RS, Loeffen JL, Gidding CE, van Kouwen MC, de Vries IJM, van Boxtel R, de Voer RM, Jongmans MC, Kuiper RP. Nat Commun 16: 2025 4459