First description of ultramutated endometrial cancer caused by germline loss-of-function and somatic exonuclease domain mutations in POLE gene (2020)
- Authors:
- 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:
- 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
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
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: 23 jan. 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 jan. 23 ] 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 jan. 23 ] Available from: https://doi.org/10.1590/1678-4685-gmb-2020-0100 - Screening of germline mutations in genes related to DNA repair among lynch-like patients diagnosed with endometrial cancer
- Diagnóstico molecular de síndrome de Lynch em casos de câncer de endométrio deficientes do sistema de reparo de pareamento incorreto de DNA
- 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
- 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
- Evaluation of Mismatch repair system proficiency in endometrial cancer to detect cases of lynch syndrome: a universal approach
Informações sobre o DOI: 10.1590/1678-4685-gmb-2020-0100 (Fonte: oaDOI API)
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
