Genomic bases of non-syndromic basal cell carcinoma: literature review
Introduction: Non-melanoma skin neoplasms represent the most frequent type in both sexes globally, with basal cell carcinoma being the most prevalent, representing 75 to 80% of cases. In Brazil, the number of new cases expected for the triennium 2020-2022 will be 83,770 in men and 93,160 in women, c...
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Thieme Revinter Publicações Ltda.
2021-09-01
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| Series: | Revista Brasileira de Cirurgia Plástica |
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| Online Access: | http://www.rbcp.org.br/export-pdf/2989/en_v36n3a13.pdf |
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| author | Daniel Sundfeld Spiga Real |
| author_facet | Daniel Sundfeld Spiga Real |
| author_sort | Daniel Sundfeld Spiga Real |
| collection | DOAJ |
| description | Introduction: Non-melanoma skin neoplasms represent the most frequent type in both sexes globally, with basal cell carcinoma being the most prevalent, representing 75 to 80% of cases. In Brazil, the number of new cases expected for the triennium 2020-2022 will be 83,770 in men and 93,160 in women, corresponding to an estimated risk of 80.12 new cases for 100,000 men and 86.65 new cases for 100,000 women. This data demonstrates the great importance of genomic knowledge in the genesis of sporadic basal cell carcinoma.
Objective: To describe the main genes and molecular markers involved in the predisposition and pathogenesis of non-syndromic basal cell carcinoma.
Methods: Literature review in the main databases NCBI-GTR, ClinVar, ClinGen, MedGen, OMIM and GeneReviews, using as descriptors: "BCC" and "basal cell carcinoma". Inclusion criteria: Portuguese or EnGLIsh language, articles on sporadic BCC.
Results: Thirteen articles were selected for analysis. The analysis revealed a robust hedgehog pathway link in the genesis of sporadic basal cell carcinoma, with the main genes involved represented by PATCH1, PATCH2 and smoothened. The variants with the highest clinical significance were SMO-M2, PTCH1 and PTCH2-Δ22. The mutation most found was related to the action of UVB, being represented by the substitution of C>T or CC>TT at the pyrimidine site, both in PTCH and in SMO.
Conclusion: Extremely important to professionals working in the diagnosis and treatment of BCC, including plastic surgeons, as this way they can better conduct their cases, with more accurate diagnoses and prevention approaches based on the individual susceptibility of each patient, as well as targeted therapies and individualized with better success rates. |
| format | Article |
| id | doaj-art-a575b47d2fc046338a71b9864080d3b8 |
| institution | Kabale University |
| issn | 1983-5175 2177-1235 |
| language | English |
| publishDate | 2021-09-01 |
| publisher | Thieme Revinter Publicações Ltda. |
| record_format | Article |
| series | Revista Brasileira de Cirurgia Plástica |
| spelling | doaj-art-a575b47d2fc046338a71b9864080d3b82025-08-20T03:35:53ZengThieme Revinter Publicações Ltda.Revista Brasileira de Cirurgia Plástica1983-51752177-12352021-09-01360331532610.5935/2177-1235.2021RBCP0097Genomic bases of non-syndromic basal cell carcinoma: literature reviewDaniel Sundfeld Spiga Real0Federal University of São Carlos, Postgraduate Program - PPGBiotec, São Carlos, SP, BrazilIntroduction: Non-melanoma skin neoplasms represent the most frequent type in both sexes globally, with basal cell carcinoma being the most prevalent, representing 75 to 80% of cases. In Brazil, the number of new cases expected for the triennium 2020-2022 will be 83,770 in men and 93,160 in women, corresponding to an estimated risk of 80.12 new cases for 100,000 men and 86.65 new cases for 100,000 women. This data demonstrates the great importance of genomic knowledge in the genesis of sporadic basal cell carcinoma. Objective: To describe the main genes and molecular markers involved in the predisposition and pathogenesis of non-syndromic basal cell carcinoma. Methods: Literature review in the main databases NCBI-GTR, ClinVar, ClinGen, MedGen, OMIM and GeneReviews, using as descriptors: "BCC" and "basal cell carcinoma". Inclusion criteria: Portuguese or EnGLIsh language, articles on sporadic BCC. Results: Thirteen articles were selected for analysis. The analysis revealed a robust hedgehog pathway link in the genesis of sporadic basal cell carcinoma, with the main genes involved represented by PATCH1, PATCH2 and smoothened. The variants with the highest clinical significance were SMO-M2, PTCH1 and PTCH2-Δ22. The mutation most found was related to the action of UVB, being represented by the substitution of C>T or CC>TT at the pyrimidine site, both in PTCH and in SMO. Conclusion: Extremely important to professionals working in the diagnosis and treatment of BCC, including plastic surgeons, as this way they can better conduct their cases, with more accurate diagnoses and prevention approaches based on the individual susceptibility of each patient, as well as targeted therapies and individualized with better success rates.http://www.rbcp.org.br/export-pdf/2989/en_v36n3a13.pdfhuman genomebasal cell carcinomaneoplasm of basal cellsgenesmutation |
| spellingShingle | Daniel Sundfeld Spiga Real Genomic bases of non-syndromic basal cell carcinoma: literature review Revista Brasileira de Cirurgia Plástica human genome basal cell carcinoma neoplasm of basal cells genes mutation |
| title | Genomic bases of non-syndromic basal cell carcinoma:
literature review |
| title_full | Genomic bases of non-syndromic basal cell carcinoma:
literature review |
| title_fullStr | Genomic bases of non-syndromic basal cell carcinoma:
literature review |
| title_full_unstemmed | Genomic bases of non-syndromic basal cell carcinoma:
literature review |
| title_short | Genomic bases of non-syndromic basal cell carcinoma:
literature review |
| title_sort | genomic bases of non syndromic basal cell carcinoma literature review |
| topic | human genome basal cell carcinoma neoplasm of basal cells genes mutation |
| url | http://www.rbcp.org.br/export-pdf/2989/en_v36n3a13.pdf |
| work_keys_str_mv | AT danielsundfeldspigareal genomicbasesofnonsyndromicbasalcellcarcinomaliteraturereview |