POLE c.3865C>T ;(p.R1289C)

Variant ID: 12-133226032-G-A

NM_006231.2(POLE):c.3865C>T;(p.R1289C)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Scientific Reports
Guindalini, Rodrigo Santa Cruz RSC; Viana, Danilo Vilela DV; Kitajima, João Paulo Fumio Whitaker JPFW; Rocha, Vinícius Marques VM; López, Rossana Verónica Mendoza RVM; Zheng, Yonglan Y; Freitas, Érika É; Monteiro, Fabiola Paoli Mendes FPM; Valim, André A; Schlesinger, David D; Kok, Fernando F; Olopade, Olufunmilayo I OI; Folgueira, Maria Aparecida Azevedo Koike MAAK
Publication Date: 2022-03-09

Variant appearance in text: POLE: 3865C>T
PubMed Link: 35264596
Variant Present in the following documents:
  • 41598_2022_7383_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: POLE: 3865C>T; R1289C; rs770036124
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Clinicopathological and mutational analyses of colorectal cancer with mutations in the POLE gene.

Cancer Medicine
Hino, Hitoshi H; Shiomi, Akio A; Kusuhara, Masatoshi M; Kagawa, Hiroyasu H; Yamakawa, Yushi Y; Hatakeyama, Keiichi K; Kawabata, Takanori T; Oishi, Takuma T; Urakami, Kenichi K; Nagashima, Takeshi T; Kinugasa, Yusuke Y; Yamaguchi, Ken K
Publication Date: 2019-08

Variant appearance in text: POLE: R1289C
PubMed Link: 31240875
Variant Present in the following documents:
  • Main text
  • CAM4-8-4587.pdf
View BVdb publication page



Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology
Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR
Publication Date: 2019-04

Variant appearance in text: POLE: R1289C
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page