PALB2 c.2735G>A ;(p.W912*)

Variant ID: 16-23637570-C-T

NM_024675.3(PALB2):c.2735G>A;(p.W912*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


The mutation profile of differentiated thyroid cancer coexisting with undifferentiated anaplastic cancer resembles that of anaplastic thyroid cancer but not that of archetypal differentiated thyroid cancer.

Journal Of Applied Genetics
Mika, Justyna J; Łabaj, Wojciech W; Chekan, Mykola M; Abramowicz, Agata A; Pietrowska, Monika M; Polański, Andrzej A; Widłak, Piotr P
Publication Date: 2021-02

Variant appearance in text: PALB2: W912*
PubMed Link: 33222100
Variant Present in the following documents:
  • 13353_2020_594_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Prognostic significance of tumor genotypes and CD8+ infiltrates in stage I-III colorectal cancer.

Oncotarget
Fountzilas, Elena E; Kotoula, Vassiliki V; Tikas, Ioannis I; Manousou, Kyriaki K; Papadopoulou, Kyriaki K; Poulios, Christos C; Karavasilis, Vasilios V; Efstratiou, Ioannis I; Pectasides, Dimitrios D; Papaparaskeva, Kleo K; Varthalitis, Ioannis I; Christodoulou, Christos C; Papatsibas, George G; Chrisafi, Sofia S; Glantzounis, Georgios K GK; Psyrri, Amanda A; Aravantinos, Gerasimos G; Koliou, Georgia-Angeliki GA; Koukoulis, George K GK; Pentheroudakis, George E GE; Fountzilas, George G
Publication Date: 2018-11-02

Variant appearance in text: PALB2: Trp912Ter
PubMed Link: 30479693
Variant Present in the following documents:
  • oncotarget-09-35623-s001.pdf
View BVdb publication page



The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Nature Communications
Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM
Publication Date: 2018-09-10

Variant appearance in text: PALB2: 2735G>A
PubMed Link: 30202019
Variant Present in the following documents:
  • 41467_2018_6027_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Prevalence of deleterious mutations among patients with breast cancer referred for multigene panel testing in a Romanian population.

Clujul Medical (1957)
Goidescu, Iulian Gabriel IG; Caracostea, Gabriela G; Eniu, Dan Tudor DT; Stamatian, Florin Vasile FV
Publication Date: 2018

Variant appearance in text: PALB2: 2735G>A
PubMed Link: 29785153
Variant Present in the following documents:
  • Main text
  • cm-91-157.pdf
View BVdb publication page