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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

eroderma pigmentosum variant: squamous cell carcinoma of the lower lip harboring exon 11 mutation of POLH

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Author(s):
Fontes Pereira, Thais dos Santos [1] ; Castro, Ligia Pereira [2] ; Martins Menck, Carlos Frederico [2] ; Thomaz Maia, Maria Helena [3] ; de Souza, Lucas Lacerda [4] ; Fonseca, Felipe Paiva [1] ; Rebelo Pontes, Helder Antonio [4] ; Correa Pontes, Flavia Sirotheau [4] ; Gomez, Ricardo Santiago [1]
Total Authors: 9
Affiliation:
[1] Univ Fed Minas Gerais, Sch Dent, Dept Oral Surg & Pathol, Belo Horizonte, MG - Brazil
[2] Univ Sao Paulo, Inst Biomed Sci, Dept Microbiol, Sao Paulo - Brazil
[3] Fed Univ Para, Inst Biol Sci, Human & Med Genet, Belem, Para - Brazil
[4] Fed Univ Para, Univ Hosp Joao de Barros Barreto, Dept Oral Pathol, Belem, Para - Brazil
Total Affiliations: 4
Document type: Journal article
Source: ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY; v. 132, n. 3, p. E97-E105, SEP 2021.
Web of Science Citations: 0
Abstract

Xeroderma pigmentosum (XP) is a rare inherited disease caused by deficiencies in DNA damage repair, which mainly results from the failure of nucleotide excision repair or defects in translesion DNA synthesis. The development of multiple malignancies is one of the most prominent features of this condition, which is clinically characterized by the occurrence of hyperpigmentation and lesions associated with sunlight exposure. Lip squamous cell carcinoma in patients with XP has rarely been reported, and information regarding the genetic analysis of these patients is limited. In this report, a case of a 20-year-old patient who developed squamous cell carcinoma in the lower lip is described. Although the tumor was surgically excised, the patient presented with recurrence a few months later. Targeted sequencing using a customized panel of DNA repair genes revealed a mutation in POLH, the gene encoding DNA polymerase eta. Therefore, molecular characterization is important to further improve the understanding of possible phenotype-genotype correlations and mechanisms involved in the pathogenesis of XP. (AU)

FAPESP's process: 19/19435-3 - The role of DNA damage and mitochondrial function in vascular, immune and neurological ageing (DNA MoVINg)
Grantee:Carlos Frederico Martins Menck
Support Opportunities: Research Projects - Thematic Grants