Article

XPC deficiency increases risk of hematologic malignancies through mutator phenotype and characteristic mutational signature

2020-07-14

Abstract excerpt

<h4>ABSTRACT</h4> Recent studies demonstrated a dramatically increased risk of leukemia in patients with a rare genetic disorder, Xeroderma Pigmentosum group C (XP-C), characterized by constitutive deficiency of global genome nucleotide excision repair (GG-NER). However, the genetic mechanisms of non-skin cancers in XP-C patients remain unexplored. In this study, we analyzed a unique collection of internal XP-C t...

Identifiers and source

Literature Corpus work: 4bf03f6e-508f-5e0b-899f-e43bb0371105
DOI: 10.1101/2020.07.13.200667

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

XPC deficiency increases risk of hematologic malignancies through mutator phenotype and characteristic mutational signatureDOI 10.1101/2020.07.13.200667Read

XPC deficiency increases risk of hematologic malignancies through mutator phenotype and characteristic mutational signatureSemantic proximity Read

Uniquely high spontaneous mutational load in blood cells of XP-C patientsSemantic proximity Read

Increased Risk of Internal Tumors in DNA Repair-Deficient Xeroderma Pigmentosum Patients: Analysis of Four International CohortsSemantic proximity Read

The French Cohort of DNA Repair-Deficient Xeroderma Pigmentosum Patients: Risk of Hematological MalignanciesSemantic proximity Read

Increased risk of internal tumors in DNA repair-deficient xeroderma pigmentosum patients: analysis of four international cohorts.Semantic proximity Read

Analysis of Skin Cancers from Xeroderma Pigmentosum Patients Reveals Heterogeneous UV-Induced Mutational Profiles Shaped by DNA RepairSemantic proximity Read

Genomic mutation landscape of skin cancers from DNA repair-deficient xeroderma pigmentosum patients.Semantic proximity Read

DNA Repair Syndromes and Cancer: Insights Into Genetics and Phenotype PatternsSemantic proximity Read

Early-onset gynecological tumors in DNA repair-deficient xeroderma pigmentosum group C patients: a case seriesSemantic proximity Read

Hereditary cancer syndromesSemantic proximity Read

Mutational signatures and increased retrotransposon insertions in xeroderma pigmentosum variant skin tumors.Semantic proximity Read

Mutagenicity Profile Induced by UVB Light in Human Xeroderma Pigmentosum Group C Cells.Semantic proximity Read