Publications:

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Prognostic value of baseline genetic features and newly identified TP53 mutations in advanced breast cancer.

Molecular Oncology

Zhang, Lanxin L; Sun, Siwen S; Zhao, Xiaotian X; Liu, Jingwen J; Xu, Yang Y; Xu, Lingzhi L; Song, Chen C; Li, Na N; Yu, Jing J; Zhao, Shanshan S; Yu, Peiyao P; Fang, Fengqi F; Xie, Jiping J; Ji, Xuening X; Yu, Ruoying R; Ou, Qiuxiang Q; Zhao, Zuowei Z; Li, Man M

Publication Date: 2022-10

Variant appearance in text: MSH6: 1917G>A; E639=

PubMed Link: 35971249

Variant Present in the following documents:

• MOL2-16-3689-s005.xlsx, sheet 1

View BVdb publication page

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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: 1917G>A; E639=; rs368059229

PubMed Link: 35449176

Variant Present in the following documents:

• 41523_2022_417_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Journal Of Medical Genetics

Zhang, Li L; Qin, Zixin Z; Huang, Teng T; Tam, Benjamin B; Ruan, Yongsen Y; Guo, Maoni M; Wu, Xiaobing X; Li, Jiaheng J; Zhao, Bojin B; Chian, Jia Sheng JS; Wang, Xiaoyu X; Wang, Lei L; Wang, San Ming SM

Publication Date: 2022-07

Variant appearance in text: rs368059229

PubMed Link: 34172528

Variant Present in the following documents:

• jmedgenet-2021-107886supp003.xlsx, sheet 3

View BVdb publication page

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Germline mismatch repair gene variants analyzed by universal sequencing in Japanese cancer patients.

Cancer Medicine

Kiyozumi, Yoshimi Y; Matsubayashi, Hiroyuki H; Horiuchi, Yasue Y; Higashigawa, Satomi S; Oishi, Takuma T; Abe, Masato M; Ohnami, Sumiko S; Urakami, Kenichi K; Nagashima, Takeshi T; Kusuhara, Masatoshi M; Miyake, Hidehiko H; Yamaguchi, Ken K

Publication Date: 2019-09

Variant appearance in text: MSH6: 1917G>A; Glu639Glu; rs368059229

PubMed Link: 31386297

Variant Present in the following documents:

• CAM4-8-5534-s001.xlsx, sheet 1

View BVdb publication page

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Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: MSH6: 1917G>A

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: MSH6: 1917G>A; Glu639=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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