Mutator phenotype and specific mutational signature explain an increased risk of hematological malignancies in patients with Xeroderma Pigmentosum

In this study we report for the first time the unique collection of 6 leukemias and two sarcomas from XP-C. Comprehensive WGS-based mutational analysis provides genetic explanation for the increased incidence of leukemia in XP-C and describes an unique mutational process in internal tumors associated with NER deficiency.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 2 Publications

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
EGAD00001006322	In the current study we report for the first time the unique collection of 6 leukemias and two sarcomas from XP-C. Comprehensive WGS-based mutational analysis provides genetic explanation for the increased incidence of leukemia in XP-C and describes an unique mutational process in internal tumors associated with NER deficiency. Raw data are provided in FASTQ format and variant analysis as VCF files.	Illumina HiSeq 2500 unspecified	15

Publications	Citations
XPC deficiency increases risk of hematologic malignancies through mutator phenotype and characteristic mutational signature. Yurchenko AA, Padioleau I, Matkarimov BT, Soulier J, Sarasin A, Nikolaev S. Nat Commun 11: 2020 5834	10
Early-onset gynecological tumors in DNA repair-deficient xeroderma pigmentosum group C patients: a case series. Yurchenko AA, Fresneau B, Borghese B, Rajabi F, Tata Z, Genestie C, Sarasin A, Nikolaev SI. Commun Med (Lond) 3: 2023 109	0