MSH6 c.3829G>A ;(p.D1277N)

Variant ID: 2-48033618-G-A

NM_000179.2(MSH6):c.3829G>A;(p.D1277N)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.

Npj Breast Cancer
Hu, Li L; Sun, Jie J; Li, Zhongwu Z; Qu, Ziwei Z; Liu, Yan Y; Wan, Qiting Q; Liu, Jiaming J; Ding, Xinyun X; Zang, Fan F; Zhang, Juan J; Yao, Lu L; Xu, Ye Y; Wang, Yin Y; Xie, Yuntao Y
Publication Date: 2022-04-21

Variant appearance in text: MSH6: 3829G>A; D1277N
PubMed Link: 35449176
Variant Present in the following documents:
  • 41523_2022_417_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Germline mutation landscape of Chinese patients with familial breast/ovarian cancer in a panel of 22 susceptibility genes.

Cancer Medicine
Wang, Jiayu J; Li, Weiwei W; Shi, Yujian Y; Huang, Yan Y; Sun, Tao T; Tang, Lili L; Lu, Qing Q; Lei, Qiumo Q; Liao, Ning N; Jin, Feng F; Li, Hui H; Huang, Tao T; Qian, Jun J; Pang, Danmei D; Wang, Shusen S; Fan, Peizhi P; Wu, Xinhong X; Lin, Ying Y; Qin, Haiyan H; Xu, Binghe B
Publication Date: 2019-05

Variant appearance in text: MSH6: 3829G>A; Asp1277Asn
PubMed Link: 30982232
Variant Present in the following documents:
  • CAM4-8-2074-s004.xlsx, sheet 1
  • CAM4-8-2074-s006.xlsx, sheet 1
View BVdb publication page



Tracking tumour evolution in glioma through liquid biopsies of cerebrospinal fluid.

Nature
Miller, Alexandra M AM; Shah, Ronak H RH; Pentsova, Elena I EI; Pourmaleki, Maryam M; Briggs, Samuel S; Distefano, Natalie N; Zheng, Youyun Y; Skakodub, Anna A; Mehta, Smrutiben A SA; Campos, Carl C; Hsieh, Wan-Ying WY; Selcuklu, S Duygu SD; Ling, Lilan L; Meng, Fanli F; Jing, Xiaohong X; Samoila, Aliaksandra A; Bale, Tejus A TA; Tsui, Dana W Y DWY; Grommes, Christian C; Viale, Agnes A; Souweidane, Mark M MM; Tabar, Viviane V; Brennan, Cameron W CW; Reiner, Anne S AS; Rosenblum, Marc M; Panageas, Katherine S KS; DeAngelis, Lisa M LM; Young, Robert J RJ; Berger, Michael F MF; Mellinghoff, Ingo K IK
Publication Date: 2019-01

Variant appearance in text: MSH6: 3829G>A; D1277N
PubMed Link: 30675060
Variant Present in the following documents:
  • NIHMS1516901-supplement-Sup_Table_5.xlsx, sheet 1
View BVdb publication page