Xeroderma pigmentosum (XP) is characterized by: Acute sun sensitivity (severe sunburn
with blistering, persistent erythema on minimal sun exposure) with marked freckle-like …

Xeroderma pigmentosum (XP) is a rare autosomal recessive hereditary disease caused by
deficiency in repair of DNA lesions generated by ultraviolet radiation and other compounds …

Proliferating cell nuclear antigen (PCNA) is a sliding clamp protein that coordinates DNA
replication with various DNA maintenance events that are critical for human health …

Abstract The Brazilian Policy of Comprehensive Care for People with Rare Diseases
(BPCCPRD) was established by the Ministry of Health to reduce morbidity and mortality and …

POLη, encoded by the POLH gene, is a crucial protein for replicating damaged DNA and the
most studied specialized translesion synthesis polymerases. Mutations in POLη are …

The UVA component of sunlight induces DNA damage, which are basically responsible for
skin cancer formation. Xeroderma Pigmentosum Variant (XP-V) patients are defective in the …

Background Xeroderma pigmentosum (XP) patients present a high risk of developing skin
cancer and other complications at an early age. This disease is characterized by mutations …

Background The study of xeroderma pigmentosum has yielded unforeseen advances
regarding how defects in the nucleotide excision repair pathway result in this devastating …

Xeroderma pigmentosum variant (XP-V) is an autosomal recessive disease with an
increased risk of developing cutaneous neoplasms in sunlight-exposed regions. These cells …

Background Rare childhood cancer is challenging to define. The Italian Pediatric Rare
Tumor (TREP) Study considers rare tumors to include solid malignancies characterized by …