Artigo de periodico

First description of ultramutated endometrial cancer caused by germline loss-of-function and somatic exonuclease domain mutations in POLE gene (2020)

• Authors:
  • Rosa, Reginaldo Cruz Alves
  • Yurchenko, Andrey A.
  • Chahud, Fernando
  • Ribeiro-Silva, Alfredo
  • Brunaldi, Mariângela Ottoboni
  • Silva Junior, Wilson Araújo da
  • Kannouche, Patricia L.
  • Nikolaev, Sergey
  • Ferraz, Victor Evangelista de Faria
• USP affiliated authors: CHAHUD, FERNANDO - FMRP ; SILVA, ALFREDO RIBEIRO DA - FMRP ; BRUNALDI, MARIÂNGELA OTTOBONI - FMRP ; SILVA JUNIOR, WILSON ARAÚJO DA - FMRP ; FERRAZ, VICTOR EVANGELISTA DE FARIA - FMRP ; ROSA, REGINALDO CRUZ ALVES - FMRP
• Unidade: FMRP
• DOI: 10.1590/1678-4685-gmb-2020-0100
• Subjects: ENDOMÉTRIO; NEOPLASIAS; NEOPLASIAS UTERINAS; MUTAÇÃO GENÉTICA; SEQUENCIAMENTO GENÉTICO; FENÓTIPOS; CARCINOGÊNESE
• Keywords: Endometrial cancer; POLE exonuclease mutation; Targeted sequencing; TMB; Ultramutated phenotype
• Agências de fomento:
  • Financiado pela FAPESP
  • Financiado pelo CNPq
  • Financiado pela Foundation ARC 2017
  • Financiado pela Foundation Gustave Roussy
  • Financiado pela Swiss Cancer League
  • Financiado pelo INCa
• Language: Inglês
• Imprenta:
  • Publisher: Sociedade Brasileira de Genética
  • Publisher place: Ribeirão Preto
  • Date published: 2020
• Source:
  • Título: Genetics and Molecular Biology
  • ISSN: 1678-4685
  • Volume/Número/Paginação/Ano: v. 43, n. 4, art. e20200100, p. 1-8, 2020


Informações sobre a disponibilidade de versões do artigo em acesso aberto coletadas automaticamente via oaDOI API (Unpaywall).

Status:

Artigo publicado em periódico de acesso aberto (Gold Open Access)

Versão do Documento:

Versão publicada (Published version)

Acessar versão aberta:

• PDF de acesso aberto

Por se tratar de integração com serviço externo, podem existir diferentes versões do trabalho (como preprints ou postprints), que podem diferir da versão publicada.

---

Download do texto completo

Tipo	Nome	Link
	003022341.pdf	Direct link

How to cite

A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas

• ABNT

  ROSA, Reginaldo Cruz Alves et al. First description of ultramutated endometrial cancer caused by germline loss-of-function and somatic exonuclease domain mutations in POLE gene. Genetics and Molecular Biology, v. 43, n. 4, p. 1-8, 2020Tradução . . Disponível em: https://doi.org/10.1590/1678-4685-gmb-2020-0100. Acesso em: 31 mar. 2026.

• APA

  Rosa, R. C. A., Yurchenko, A. A., Chahud, F., Ribeiro-Silva, A., Brunaldi, M. O., Silva Junior, W. A. da, et al. (2020). First description of ultramutated endometrial cancer caused by germline loss-of-function and somatic exonuclease domain mutations in POLE gene. Genetics and Molecular Biology, 43( 4), 1-8. doi:10.1590/1678-4685-gmb-2020-0100

• NLM

  Rosa RCA, Yurchenko AA, Chahud F, Ribeiro-Silva A, Brunaldi MO, Silva Junior WA da, Kannouche PL, Nikolaev S, Ferraz VE de F. First description of ultramutated endometrial cancer caused by germline loss-of-function and somatic exonuclease domain mutations in POLE gene [Internet]. Genetics and Molecular Biology. 2020 ; 43( 4): 1-8.[citado 2026 mar. 31 ] Available from: https://doi.org/10.1590/1678-4685-gmb-2020-0100

• Vancouver

  Rosa RCA, Yurchenko AA, Chahud F, Ribeiro-Silva A, Brunaldi MO, Silva Junior WA da, Kannouche PL, Nikolaev S, Ferraz VE de F. First description of ultramutated endometrial cancer caused by germline loss-of-function and somatic exonuclease domain mutations in POLE gene [Internet]. Genetics and Molecular Biology. 2020 ; 43( 4): 1-8.[citado 2026 mar. 31 ] Available from: https://doi.org/10.1590/1678-4685-gmb-2020-0100

Últimas obras dos mesmos autores vinculados com a USP cadastradas na BDPI:

• Diagnóstico molecular de síndrome de Lynch em casos de câncer de endométrio deficientes do sistema de reparo de pareamento incorreto de DNA
• Screening of germline mutations in genes related to DNA repair among lynch-like patients diagnosed with endometrial cancer
• Molecular characterization of endometrial tumors for the proficiency of the DNA-mismatch repair system: a universal screening for lynch syndrome
• Molecular characterization of endometrial tumors for the proficiency of the DNA-mismatch repair system
• Detection and diagnosis of lynch syndrome and PPAP from endometrial cancer cases
• Microssatellite instability identification in a sample of endometrioid carcinoma of endometrium with positive immunohistochemistry for MLH1, MSH2, MSH6 and PMS2
• Lynch syndrome identification in a Brazilian cohort of endometrial cancer screened by a universal approach
• Evaluation of mismatch repair system proficiency in endometrial cancer to detect cases of lynch syndrome: a universal approach
• Dendritic cells in oral squamous cell carcinoma (OSCC): is there a difference between young and old patients ?
• Evaluation of Mismatch repair system proficiency in endometrial cancer to detect cases of lynch syndrome: a universal approach