PALB2 c.2484C>T ;(p.C828=)

Variant ID: 16-23640991-G-A

NM_024675.3(PALB2):c.2484C>T;(p.C828=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications
Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M
Publication Date: 2018-10-04

Variant appearance in text: PALB2: 2484C>T; Cys828Cys
PubMed Link: 30287823
Variant Present in the following documents:
  • 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Prevalence of PALB2 mutations in Australian familial breast cancer cases and controls.

Breast Cancer Research : Bcr
Thompson, Ella R ER; Gorringe, Kylie L KL; Rowley, Simone M SM; Wong-Brown, Michelle W MW; McInerny, Simone S; Li, Na N; Trainer, Alison H AH; Devereux, Lisa L; Doyle, Maria A MA; Li, Jason J; Lupat, Richard R; Delatycki, Martin B MB; , ; Mitchell, Gillian G; James, Paul A PA; Scott, Rodney J RJ; Campbell, Ian G IG
Publication Date: 2015-08-19

Variant appearance in text: PALB2: 2484C>T
PubMed Link: 26283626
Variant Present in the following documents:
  • Main text
  • 13058_2015_Article_627.pdf
View BVdb publication page