Publications:

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Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-25

Variant appearance in text: rs63750114

PubMed Link: 36966136

Variant Present in the following documents:

• 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics

Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB

Publication Date: 2023

Variant appearance in text: MLH1: Q701K

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.xlsx, sheet 1

View BVdb publication page

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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: MLH1: Q701K

PubMed Link: 36072793

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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A Germline Mutation in ATR Is Associated With Lung Adenocarcinoma in Asian Patients.

Frontiers In Oncology

Bao, Guangyao G; Guan, Xiaojiao X; Liang, Jie J; Yao, Yao Y; Xiang, Yifan Y; Li, Tian T; Zhong, Xinwen X

Publication Date: 2022

Variant appearance in text: MLH1: Q701K

PubMed Link: 35712480

Variant Present in the following documents:

• Main text
• fonc-12-855305.pdf

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: MLH1: 1896+1332C>A; Q701K; rs63750114

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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The mutation landscape of multiple cancer predisposition genes in Chinese familial/hereditary breast cancer families.

Cancer Biology & Medicine

Dong, Li L; Zhang, Hailian H; Zhang, Huan H; Ye, Yingnan Y; Cheng, Yanan Y; Li, Lijuan L; Wei, Lijuan L; Han, Lei L; Cao, Yandong Y; Li, Shixia S; Hao, Xishan X; Liu, Juntian J; Yu, Jinpu J

Publication Date: 2021-09-28

Variant appearance in text: MLH1: 2101C>A; Gln701Lys

PubMed Link: 34570441

Variant Present in the following documents:

• cbm-19-850-s001.pdf

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: MLH1: 2101C>A; Gln701Lys; rs63750114

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3

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: rs63750114

PubMed Link: 34172528

Variant Present in the following documents:

• jmedgenet-2021-107886supp007.xlsx, sheet 1
• jmedgenet-2021-107886supp003.xlsx, sheet 1
• jmedgenet-2021-107886supp006.xlsx, sheet 1

View BVdb publication page

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Comparison of long-term outcomes between Lynch sydrome and sporadic colorectal cancer: a propensity score matching analysis.

Bmc Cancer

Xu, Yun Y; Li, Cong C; Zheng, Charlie Zhi-Lin CZ; Zhang, Yu-Qin YQ; Guo, Tian-An TA; Liu, Fang-Qi FQ; Xu, Ye Y

Publication Date: 2021-01-09

Variant appearance in text: MLH1: 2101C>A; Gln701Lys

PubMed Link: 33422027

Variant Present in the following documents:

• Main text
• 12885_2020_Article_7771.pdf

View BVdb publication page

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Clinical and mutational profiles of adult medulloblastoma groups.

Acta Neuropathologica Communications

Wong, Gabriel Chun-Hei GC; Li, Kay Ka-Wai KK; Wang, Wei-Wei WW; Liu, Anthony Pak-Yin AP; Huang, Queenie Junqi QJ; Chan, Aden Ka-Yin AK; Poon, Manix Fung-Man MF; Chung, Nellie Yuk-Fei NY; Wong, Queenie Hoi-Wing QH; Chen, Hong H; Chan, Danny Tat Ming DTM; Liu, Xian-Zhi XZ; Mao, Ying Y; Zhang, Zhen-Yu ZY; Shi, Zhi-Feng ZF; Ng, Ho-Keung HK

Publication Date: 2020-11-10

Variant appearance in text: MLH1: Q701K

PubMed Link: 33172502

Variant Present in the following documents:

• 40478_2020_1066_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: MLH1: 2101C>A; Gln701Lys; rs63750114

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: MLH1: 2101C>A; Q701K

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: MLH1: 2101C>A; Gln701Lys

PubMed Link: 30982232

Variant Present in the following documents:

• CAM4-8-2074-s004.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: MLH1: 2101C>A; Gln701Lys

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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A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome.

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

Drost, Mark M; Tiersma, Yvonne Y; Thompson, Bryony A BA; Frederiksen, Jane H JH; Keijzers, Guido G; Glubb, Dylan D; Kathe, Scott S; Osinga, Jan J; Westers, Helga H; Pappas, Lisa L; Boucher, Kenneth M KM; Molenkamp, Siska S; Zonneveld, José B JB; van Asperen, Christi J CJ; Goldgar, David E DE; Wallace, Susan S SS; Sijmons, Rolf H RH; Spurdle, Amanda B AB; Rasmussen, Lene J LJ; Greenblatt, Marc S MS; de Wind, Niels N; Tavtigian, Sean V SV

Publication Date: 2019-07

Variant appearance in text: MLH1: Q701K

PubMed Link: 30504929

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Bayesian framework for efficient and accurate variant prediction.

Plos One

Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH

Publication Date: 2018

Variant appearance in text: MLH1: 2101C>A; Q701K

PubMed Link: 30212499

Variant Present in the following documents:

• pone.0203553.s008.xlsx, sheet 2

View BVdb publication page

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Targeted next generation sequencing identified clinically actionable mutations in patients with esophageal sarcomatoid carcinoma.

Bmc Cancer

Lu, Hongyang H; Yang, Shifeng S; Zhu, Huineng H; Tong, Xiaoling X; Xie, Fajun F; Qin, Jing J; Han, Na N; Wu, Xue X; Fan, Yun Y; Shao, Yang W YW; Mao, Weimin W

Publication Date: 2018-03-05

Variant appearance in text: MLH1: Q701K

PubMed Link: 29506494

Variant Present in the following documents:

• Main text
• 12885_2018_4159_MOESM2_ESM.xlsx, sheet 1
• 12885_2018_Article_4159.pdf

View BVdb publication page

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Association of rs2294008 and rs9297976 Polymorphisms in PSCA Gene with Gastric Cancer Susceptibility in Uzbekistan.

Central Asian Journal Of Global Health

Turdikulova, Shahlo S; Dalimova, Dilbar D; Abdurakhimov, Abror A; Adilov, Bekzod B; Navruzov, Sarimbek S; Yusupbekov, Abror A; Djuraev, Mirjalol M; Abdujapparov, Suleyman S; Egamberdiev, Dilshod D; Mukhamedov, Rustam R

Publication Date: 2016

Variant appearance in text: MLH1: Q701K

PubMed Link: 29138729

Variant Present in the following documents:

• cajgh-05-227.pdf

View BVdb publication page

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Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women.

Oncotarget

Yu, Yan Y; Lu, Bingjian B; Lu, Weiguo W; Li, Shuang S; Li, Xiuqin X; Wang, Xinyu X; Wan, Xiaoyun X; Chen, Yaxia Y; Feng, Suwen S; Jia, Yao Y; Yang, Ru R; Tang, Fangxu F; Li, Xiong X; Zhang, Shulan S; Wang, Xinyan X; Wei, Heng H; Peng, Zhilan Z; Lu, Lin L; Zhong, Huizhen H; Zhao, Linjun L; Huang, Zhangqian Z; Lin, Lin L; Shen, Weihong W; Lu, Yan Y; Cao, Zhu Z; Zou, Jian J; Ma, Yuejiang Y; Chen, Xiaojing X; Tian, Qifang Q; Lu, Shiming S; Liu, Pengyuan P; Ma, Ding D; Xie, Xing X; Cheng, Xiaodong X

Publication Date: 2017-09-26

Variant appearance in text: MLH1: Q701K

PubMed Link: 29088863

Variant Present in the following documents:

• oncotarget-08-75264-s003.xls, sheet 1

View BVdb publication page

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Profiling cancer-associated genetic alterations and molecular classification of cancer in Korean gastric cancer patients.

Oncotarget

Kim, Yoonjung Y; Cho, Mee-Yon MY; Kim, Juwon J; Kim, Sung Nam SN; Oh, Seoung Chul SC; Lee, Kyung-A KA

Publication Date: 2017-09-19

Variant appearance in text: MLH1: Q701K

PubMed Link: 29050249

Variant Present in the following documents:

• Main text
• oncotarget-08-69888.pdf

View BVdb publication page

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Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine

Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ

Publication Date: 2017-07-14

Variant appearance in text: MLH1: Q701K; rs63750114

PubMed Link: 28706299

Variant Present in the following documents:

• emm2017142x4.xls, sheet 1

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: MLH1: 2101C>A; Gln701Lys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Mutation analysis of 13 driver genes of colorectal cancer-related pathways in Taiwanese patients.

World Journal Of Gastroenterology

Chang, Yuli Christine YC; Chang, Jan-Gowth JG; Liu, Ta-Chih TC; Lin, Chien-Yu CY; Yang, Shu-Fen SF; Ho, Cheng-Mao CM; Chen, William Tzu-Liang WT; Chang, Ya-Sian YS

Publication Date: 2016-02-21

Variant appearance in text: MLH1: 2101C>A; Gln701Lys; rs63750114

PubMed Link: 26900293

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeted next-generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families.

Cancer Medicine

Talseth-Palmer, Bente A BA; Bauer, Denis C DC; Sjursen, Wenche W; Evans, Tiffany J TJ; McPhillips, Mary M; Proietto, Anthony A; Otton, Geoffrey G; Spigelman, Allan D AD; Scott, Rodney J RJ

Publication Date: 2016-05

Variant appearance in text: MLH1: 2101C>A; Gln701Lys; rs63750114

PubMed Link: 26811195

Variant Present in the following documents:

• Main text
• CAM4-5-929.pdf

View BVdb publication page

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Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Plos One

Olfson, Emily E; Cottrell, Catherine E CE; Davidson, Nicholas O NO; Gurnett, Christina A CA; Heusel, Jonathan W JW; Stitziel, Nathan O NO; Chen, Li-Shiun LS; Hartz, Sarah S; Nagarajan, Rakesh R; Saccone, Nancy L NL; Bierut, Laura J LJ

Publication Date: 2015

Variant appearance in text: MLH1: 2101C>A; Gln701Lys

PubMed Link: 26332594

Variant Present in the following documents:

• pone.0135193.s002.xls, sheet 1

View BVdb publication page

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Advances in the study of Lynch syndrome in China.

World Journal Of Gastroenterology

Lu, Jun-Yu JY; Sheng, Jian-Qiu JQ

Publication Date: 2015-06-14

Variant appearance in text: MLH1: 2101C>A

PubMed Link: 26078562

Variant Present in the following documents:

• Main text

View BVdb publication page

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Missense mutations of MLH1 and MSH2 genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers.

Oncology Letters

Zhu, Ming M; Chen, Hui-Mei HM; Wang, Ya-Ping YP

Publication Date: 2013-05

Variant appearance in text: MLH1: 2101C>A; Gln701Lys

PubMed Link: 23760103

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel CDH1 germline mutations identified in Chinese gastric cancer patients.

World Journal Of Gastroenterology

Chen, Qin-Hua QH; Deng, Wei W; Li, Xiao-Wei XW; Liu, Xiu-Fang XF; Wang, Jing-Mei JM; Wang, Li-Feng LF; Xiao, Nong N; He, Qiong Q; Wang, Ya-Ping YP; Fan, Yi-Mei YM

Publication Date: 2013-02-14

Variant appearance in text: MLH1: 2101C>A; Q701K

PubMed Link: 23431106

Variant Present in the following documents:

• Main text

View BVdb publication page

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Folliculin, the product of the Birt-Hogg-Dube tumor suppressor gene, interacts with the adherens junction protein p0071 to regulate cell-cell adhesion.

Plos One

Medvetz, Doug A DA; Khabibullin, Damir D; Hariharan, Venkatesh V; Ongusaha, Pat P PP; Goncharova, Elena A EA; Schlechter, Tanja T; Darling, Thomas N TN; Hofmann, Ilse I; Krymskaya, Vera P VP; Liao, James K JK; Huang, Hayden H; Henske, Elizabeth P EP

Publication Date: 2012

Variant appearance in text: MLH1: Q701K

PubMed Link: 23139756

Variant Present in the following documents:

• pone.0047842.pdf

View BVdb publication page

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The MLH1 2101C>A (Q701K) variant increases the risk of gastric cancer in Chinese males.

Bmc Gastroenterology

Zhi, Wenxian W; Xue, Binshuang B; Wang, Lifeng L; Xiao, Nong N; He, Qiong Q; Wang, Yaping Y; Fan, Yimei Y

Publication Date: 2011-12-03

Variant appearance in text: MLH1: Q701K

PubMed Link: 22136435

Variant Present in the following documents:

• Main text
• 1471-230X-11-133.pdf

View BVdb publication page

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