Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Orphanet journal of rare diseases - 4 Mar 2022

Nikolaev Sergey, Yurchenko Andrey A, Sarasin Alain

Abstract excerpt

BACKGROUND: Xeroderma pigmentosum (XP) is a rare, autosomal, recessive DNA repair-deficiency disorder with a frequency of 1-3 per million livebirths in Europe and USA but with higher frequencies in isolated islands or in countries with a high level of consanguinity. XP is characterized by high incidence of skin cancers on sun-exposed sites. Recent improvement in life expectancy of XP patients suggests an...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child, Preschool
Share to DNA-Binding Proteins

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA Repair

Share to Infant

Share to Infant, Newborn

Share to Skin Neoplasms

Share to Xeroderma Pigmentosum

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 35246173
DOI: 10.1186/s13023-022-02203-1
PMCID: PMC8896305

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Increased risk of internal tumors in DNA repair-deficient xeroderma pigmentosum patients: analysis of four international cohorts.PMID 35246173Read ↗

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 ↗

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

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

Clinics, Genetics and Treatment in a Russian Cohort of Young Patients with Xeroderma Pigmentosum: A Single Center ExperienceSemantic proximity Read ↗

Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repairSemantic proximity Read ↗

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

Xeroderma pigmentosum with multiple skin carcinoma and a homogenous XPC mutation: A case report from China and literature review.Semantic proximity Read ↗

DNA repair-related heritable photosensitivity syndromes: Mutation landscape in a multiethnic cohort of 17 multigenerational families with high degree of consanguinity.Semantic proximity Read ↗

Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair DisordersSemantic proximity Read ↗

Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.Semantic proximity Read ↗

Xeroderma Pigmentosum: General Aspects and ManagementSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.