PALB2 c.535C>T ;(p.Q179*)

Variant ID: 16-23647332-G-A

NM_024675.3(PALB2):c.535C>T;(p.Q179*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: PALB2: Q179X
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Spectrum of PALB2 germline mutations and characteristics of PALB2-related breast cancer: Screening of 16,501 unselected patients with breast cancer and 5890 controls by next-generation sequencing.

Cancer
Zhou, Jiaojiao J; Wang, Honglian H; Fu, Fangmeng F; Li, Zhanwen Z; Feng, Qingjian Q; Wu, Weizhu W; Liu, Yun Y; Wang, Chuan C; Chen, Yiding Y
Publication Date: 2020-07-15

Variant appearance in text: PALB2: 535C>T; Gln179Ter
PubMed Link: 32339256
Variant Present in the following documents:
View BVdb publication page



Multigene Panel Testing Increases the Number of Loci Associated with Gastric Cancer Predisposition.

Cancers
Tedaldi, Gianluca G; Pirini, Francesca F; Tebaldi, Michela M; Zampiga, Valentina V; Cangini, Ilaria I; Danesi, Rita R; Arcangeli, Valentina V; Ravegnani, Mila M; Abou Khouzam, Raefa R; Molinari, Chiara C; Oliveira, Carla C; Morgagni, Paolo P; Saragoni, Luca L; Bencivenga, Maria M; Ulivi, Paola P; Amadori, Dino D; Martinelli, Giovanni G; Falcini, Fabio F; Ranzani, Guglielmina Nadia GN; Calistri, Daniele D
Publication Date: 2019-09-11

Variant appearance in text: PALB2: 535C>T; Gln179*
PubMed Link: 31514334
Variant Present in the following documents:
  • Main text
  • cancers-11-01340.pdf
View BVdb publication page