PALB2 c.2841G>T ;(p.L947F)

Variant ID: 16-23634445-C-A

NM_024675.3(PALB2):c.2841G>T;(p.L947F)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Functional Characterization of PALB2 Variants of Uncertain Significance: Toward Cancer Risk and Therapy Response Prediction.

Frontiers In Molecular Biosciences
Boonen, Rick A C M RACM; Vreeswijk, Maaike P G MPG; van Attikum, Haico H
Publication Date: 2020

Variant appearance in text: PALB2: L947F
PubMed Link: 33195396
Variant Present in the following documents:
  • Main text
  • fmolb-07-00169.pdf
View BVdb publication page



Molecular Mechanisms of PALB2 Function and Its Role in Breast Cancer Management.

Frontiers In Oncology
Wu, Shijie S; Zhou, Jiaojiao J; Zhang, Kun K; Chen, Huihui H; Luo, Meng M; Lu, Yuexin Y; Sun, Yuting Y; Chen, Yiding Y
Publication Date: 2020

Variant appearance in text: PALB2: 2841G>T
PubMed Link: 32185139
Variant Present in the following documents:
  • Main text
  • fonc-10-00301.pdf
View BVdb publication page



Functional characterization of 84 PALB2 variants of uncertain significance.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wiltshire, Timothy T; Ducy, Mandy M; Foo, Tzeh Keong TK; Hu, Chunling C; Lee, Kun Y KY; Belur Nagaraj, Anil A; Rodrigue, Amélie A; Gomes, Thiago T TT; Simard, Jacques J; Monteiro, Alvaro N A ANA; Xia, Bing B; Carvalho, Marcelo A MA; Masson, Jean-Yves JY; Couch, Fergus J FJ
Publication Date: 2020-03

Variant appearance in text: PALB2: 2841G>T; L947F
PubMed Link: 31636395
Variant Present in the following documents:
  • Main text
  • 41436_2019_Article_682.pdf
View BVdb publication page



A global functional analysis of missense mutations reveals two major hotspots in the PALB2 tumor suppressor.

Nucleic Acids Research
Rodrigue, Amélie A; Margaillan, Guillaume G; Torres Gomes, Thiago T; Coulombe, Yan Y; Montalban, Gemma G; da Costa E Silva Carvalho, Simone S; Milano, Larissa L; Ducy, Mandy M; De-Gregoriis, Giuliana G; Dellaire, Graham G; Araújo da Silva, Wilson W; Monteiro, Alvaro N AN; Carvalho, Marcelo A MA; Simard, Jacques J; Masson, Jean-Yves JY
Publication Date: 2019-11-18

Variant appearance in text: PALB2: 2841G>T; L947F
PubMed Link: 31586400
Variant Present in the following documents:
  • Main text
View BVdb publication page