BAP1 c.*444C>A

Variant ID: 3-52435860-G-T

NM_004656.3(BAP1):c.*444C>A

This variant was identified in 6 publications

View GRCh38 version.




Publications:


MicroRNA-binding site polymorphisms and risk of colorectal cancer: A systematic review and meta-analysis.

Cancer Medicine
Gholami, Morteza M; Larijani, Bagher B; Sharifi, Farshad F; Hasani-Ranjbar, Shirin S; Taslimi, Reza R; Bastami, Milad M; Atlasi, Rasha R; Amoli, Mahsa M MM
Publication Date: 2019-12

Variant appearance in text: rs123598
PubMed Link: 31637880
Variant Present in the following documents:
  • Main text
  • CAM4-8-7477.pdf
View BVdb publication page



Germline large deletion of BAP1 and decreased expression in non-tumor choroid in uveal melanoma patients with high risk for inherited cancer.

Genes, Chromosomes & Cancer
Boru, Getachew G; Grosel, Timothy W TW; Pilarski, Robert R; Stautberg, Meredith M; Massengill, James B JB; Jeter, Joanne J; Singh, Arun A; Marino, Meghan J MJ; McElroy, Joseph P JP; Davidorf, Frederick H FH; Cebulla, Colleen M CM; Abdel-Rahman, Mohamed H MH
Publication Date: 2019-09

Variant appearance in text: rs123598
PubMed Link: 30883995
Variant Present in the following documents:
  • Main text
View BVdb publication page



Splicing modulation as novel therapeutic strategy against diffuse malignant peritoneal mesothelioma.

Ebiomedicine
Sciarrillo, Rocco R; Wojtuszkiewicz, Anna A; El Hassouni, Btissame B; Funel, Niccola N; Gandellini, Paolo P; Lagerweij, Tonny T; Buonamici, Silvia S; Blijlevens, Maxime M; Zeeuw van der Laan, Eveline A EA; Zaffaroni, Nadia N; Deraco, Marcello M; Kusamura, Shigeki S; Würdinger, Tom T; Peters, Godefridus J GJ; Molthoff, Carla F M CFM; Jansen, Gerrit G; Kaspers, Gertjan J L GJL; Cloos, Jacqueline J; Giovannetti, Elisa E
Publication Date: 2019-01

Variant appearance in text: rs123598
PubMed Link: 30581150
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Common, germline genetic variations in the novel tumor suppressor BAP1 and risk of developing different types of cancer.

Oncotarget
Lin, Moubin M; Zhang, Liren L; Hildebrandt, Michelle A T MAT; Huang, Maosheng M; Wu, Xifeng X; Ye, Yuanqing Y
Publication Date: 2017-09-26

Variant appearance in text: rs123598
PubMed Link: 29088836
Variant Present in the following documents:
  • Main text
  • oncotarget-08-74936.pdf
View BVdb publication page



Genetic characterization of Polish ccRCC patients: somatic mutation analysis of PBRM1, BAP1 and KDMC5, genomic SNP array analysis in tumor biopsy and preliminary results of chromosome aberrations analysis in plasma cell free DNA.

Oncotarget
Kluzek, Katarzyna K; Srebniak, Malgorzata I MI; Majer, Weronika W; Ida, Agnieszka A; Milecki, Tomasz T; Huminska, Kinga K; van der Helm, Robert M RM; Silesian, Adrian A; Wrzesinski, Tomasz M TM; Wojciechowicz, Jacek J; Beverloo, Berna H BH; Kwias, Zbigniew Z; Bluyssen, Hans A R HAR; Wesoly, Joanna J
Publication Date: 2017-04-25

Variant appearance in text: rs123598
PubMed Link: 28212566
Variant Present in the following documents:
  • oncotarget-08-28558-s004.xlsx, sheet 1
View BVdb publication page



Germline BAP1 alterations in familial uveal melanoma.

Genes, Chromosomes & Cancer
Rai, Karan K; Pilarski, Robert R; Boru, Getachew G; Rehman, Muneeb M; Saqr, Ahmad H AH; Massengill, James B JB; Singh, Arun A; Marino, Meghan J MJ; Davidorf, Frederick H FH; Cebulla, Colleen M CM; H Abdel-Rahman, Mohamed M
Publication Date: 2017-02

Variant appearance in text: rs123598
PubMed Link: 27718540
Variant Present in the following documents:
  • Main text
View BVdb publication page