MSH6 c.695dup ;(p.P233Afs*2)

Variant ID: 2-48025816-C-CA

NM_000179.2(MSH6):c.695dup;(p.P233Afs*2)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Extended gene panel testing in lobular breast cancer.

Familial Cancer
van Veen, Elke M EM; Evans, D Gareth DG; Harkness, Elaine F EF; Byers, Helen J HJ; Ellingford, Jamie M JM; Woodward, Emma R ER; Bowers, Naomi L NL; Wallace, Andrew J AJ; Howell, Sacha J SJ; Howell, Anthony A; Lalloo, Fiona F; Newman, William G WG; Smith, Miriam J MJ
Publication Date: 2022-04

Variant appearance in text: MSH6: 695dupA
PubMed Link: 33763779
Variant Present in the following documents:
  • 10689_2021_Article_241.pdf
View BVdb publication page



A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07

Variant appearance in text: MSH6: 694_695insA; Pro233Alafs*2
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page



Mutation spectrum of germline cancer susceptibility genes among unselected Chinese colorectal cancer patients.

Cancer Management And Research
Gong, Rui R; He, Yuan Y; Liu, Xiao-Yun XY; Wang, Hai-Yun HY; Sun, Li-Yue LY; Yang, Xin-Hua XH; Li, Bin B; Cao, Xin-Kai XK; Ye, Zu-Lu ZL; Kong, Ling-Heng LH; Zhang, Da-Dong DD; Li, Yu-Hong YH; Xu, Rui-Hua RH; Shao, Jian-Yong JY
Publication Date: 2019

Variant appearance in text: MSH6: 695dup; P233Afs*2
PubMed Link: 31118792
Variant Present in the following documents:
  • Main text
  • cmar-11-3721.pdf
View BVdb publication page