Publications:

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Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications

White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C

Publication Date: 2022-09

Variant appearance in text: MSH2: 14C>A; Pro5Gln; rs56170584

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Medrxiv : The Preprint Server For Health Sciences

Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB

Publication Date: 2023-02-26

Variant appearance in text: MSH2: 14C>A

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.xlsx, sheet 1

View BVdb publication page

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MR imaging phenotypes and features associated with pathogenic mutation to predict recurrence or metastasis in breast cancer.

Bmc Cancer

Shao, Zhenzhen Z; Yu, Jinpu J; Cheng, Yanan Y; Ma, Wenjuan W; Liu, Peifang P; Lu, Hong H

Publication Date: 2023-01-27

Variant appearance in text: MSH2: 14C>A

PubMed Link: 36707770

Variant Present in the following documents:

• 12885_2023_Article_10555.pdf

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: MSH2: P5Q

PubMed Link: 36072793

Variant Present in the following documents:

• Table_2.xlsx, sheet 1
• Table_3.xlsx, sheet 1

View BVdb publication page

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Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.

Clinical And Translational Medicine

Cong, Pei-Kuan PK; Khederzadeh, Saber S; Yuan, Cheng-Da CD; Ma, Rui-Jie RJ; Zhang, Yi-Yao YY; Liu, Jun-Quan JQ; Yu, Shi-Hui SH; Xu, Lin L; Gao, Jian-Hua JH; Pan, Hong-Xu HX; Li, Jin-Chen JC; Xie, Shu-Yang SY; Liu, Ke-Qi KQ; Tang, Bei-Sha BS; Zheng, Hou-Feng HF

Publication Date: 2022-05

Variant appearance in text: MSH2: 14C>A; Pro5Gln; rs56170584

PubMed Link: 35538921

Variant Present in the following documents:

• Main text
• CTM2-12-e866.pdf

View BVdb publication page

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Germline pathogenic variants in unselected Korean men with prostate cancer.

Investigative And Clinical Urology

So, Min-Kyung MK; Ahn, Hyun Kyu HK; Huh, Jungwon J; Kim, Kwang Hyun KH

Publication Date: 2022-05

Variant appearance in text: MSH2: 14C>A; Pro5Gln; rs56170584

PubMed Link: 35534218

Variant Present in the following documents:

• icu-63-294-s001.xls, 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: MSH2: 14C>A; P5Q; rs56170584

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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Synchronous lung and multiple soft tissue metastases developed from osteosarcoma of tibia: a rare case report and genetic profile analysis.

Bmc Musculoskeletal Disorders

Zheng, Chuanxi C; Wang, Yitian Y; Luo, Yi Y; Pang, Zongguo Z; Zhou, Yong Y; Min, Li L; Tu, Chongqi C

Publication Date: 2022-01-20

Variant appearance in text: MSH2: 14C>A; P5Q; rs56170584

PubMed Link: 35057767

Variant Present in the following documents:

• Main text
• 12891_2022_Article_5020.pdf

View BVdb publication page

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Synchronous lung and multiple soft tissue metastases developed from osteosarcoma of tibia: a rare case report and genetic profile analysis.

Bmc Musculoskeletal Disorders

Zheng, Chuanxi C; Wang, Yitian Y; Luo, Yi Y; Pang, Zongguo Z; Zhou, Yong Y; Min, Li L; Tu, Chongqi C

Publication Date: 2022-01-20

Variant appearance in text: MSH2: 14C>A; P5Q; rs56170584

PubMed Link: 35057767

Variant Present in the following documents:

• Main text
• 12891_2022_Article_5020.pdf

View BVdb publication page

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Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.

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

Loong, Lucy L; Cubuk, Cankut C; Choi, Subin S; Allen, Sophie S; Torr, Beth B; Garrett, Alice A; Loveday, Chey C; Durkie, Miranda M; Callaway, Alison A; Burghel, George J GJ; Drummond, James J; Robinson, Rachel R; Berry, Ian R IR; Wallace, Andrew A; Eccles, Diana M DM; Tischkowitz, Marc M; Ellard, Sian S; Ware, James S JS; Hanson, Helen H; Turnbull, Clare C; ,

Publication Date: 2022-03

Variant appearance in text: MSH2: 14C>A; Pro5Gln

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

View BVdb publication page

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Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers.

Scientific Reports

Choi, Yoon Young YY; Shin, Su-Jin SJ; Lee, Jae Eun JE; Madlensky, Lisa L; Lee, Seung-Tae ST; Park, Ji Soo JS; Jo, Jeong-Hyeon JH; Kim, Hyunki H; Nachmanson, Daniela D; Xu, Xiaojun X; Noh, Sung Hoon SH; Cheong, Jae-Ho JH; Harismendy, Olivier O

Publication Date: 2021-07-20

Variant appearance in text: MSH2: P5Q

PubMed Link: 34285288

Variant Present in the following documents:

• 41598_2021_94292_MOESM1_ESM.xlsx, sheet 6
• 41598_2021_94292_MOESM1_ESM.xlsx, sheet 2

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: MSH2: 14C>A; Pro5Gln; rs56170584

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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: MSH2: 14C>A; Pro5Gln; rs56170584

PubMed Link: 34172528

Variant Present in the following documents:

• jmedgenet-2021-107886supp007.xlsx, sheet 1
• jmedgenet-2021-107886supp006.xlsx, sheet 2
• jmedgenet-2021-107886supp003.xlsx, sheet 2

View BVdb publication page

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A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer

Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y

Publication Date: 2021-03-16

Variant appearance in text: MSH2: 14C>A; P5Q

PubMed Link: 33726687

Variant Present in the following documents:

• 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.

Plos Neglected Tropical Diseases

Xing, Yan Y; He, Jun J; Wen, Yan Y; Liu, Jian J; You, Yuangang Y; Weng, Xiaoman X; Yuan, Lianchao L; Xiong, Li L; Chen, Xiaohua X; Zhang, Ying Y; Li, Huan-Ying HY

Publication Date: 2020-12

Variant appearance in text: MSH2: P5Q; rs56170584

PubMed Link: 33362202

Variant Present in the following documents:

• pntd.0008883.s010.xlsx, sheet 1

View BVdb publication page

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Molecular screening and clinicopathologic characteristics of Lynch-like syndrome in a Chinese colorectal cancer cohort.

American Journal Of Cancer Research

Xu, Hai-Xia HX; Zhu, Ping P; Zheng, Yan-Ying YY; Zhang, Xiang X; Chen, Yi-Qi YQ; Qiao, Li-Chao LC; Zhang, Yi-Fen YF; Jiang, Feng F; Li, You-Ran YR; Chen, Hong-Jin HJ; Chen, Yu-Gen YG; Gu, Yun-Fei YF; Yang, Bo-Lin BL

Publication Date: 2020

Variant appearance in text: MSH2: 14C>A; P5Q

PubMed Link: 33294277

Variant Present in the following documents:

• Main text

View BVdb publication page

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Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.

Frontiers In Genetics

Thompson, Bryony A BA; Walters, Rhiannon R; Parsons, Michael T MT; Dumenil, Troy T; Drost, Mark M; Tiersma, Yvonne Y; Lindor, Noralane M NM; Tavtigian, Sean V SV; de Wind, Niels N; Spurdle, Amanda B AB; ,

Publication Date: 2020

Variant appearance in text: MSH2: 14C>A; Pro5Gln

PubMed Link: 32849802

Variant Present in the following documents:

• Data_Sheet_1.xlsx, sheet 3

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: MSH2: 14C>A; Pro5Gln; rs56170584

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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Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.

Aging

Chen, Bo B; Zhang, Guochun G; Li, Xuerui X; Ren, Chongyang C; Wang, Yulei Y; Li, Kai K; Mok, Hsiaopei H; Cao, Li L; Wen, Lingzhu L; Jia, Minghan M; Li, Cheukfai C; Guo, Liping L; Wei, Guangnan G; Lin, Jiali J; Li, Yingzi Y; Zhang, Yuchen Y; Han-Zhang, Han H; Liu, Jing J; Lizaso, Analyn A; Liao, Ning N

Publication Date: 2020-02-24

Variant appearance in text: MSH2: 14C>A; Pro5Gln; rs56170584

PubMed Link: 32091409

Variant Present in the following documents:

• aging-12-102783-s001..xlsx, sheet 1

View BVdb publication page

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Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test.

Cancer Research And Treatment

Shin, Hee-Chul HC; Lee, Han-Byoel HB; Yoo, Tae-Kyung TK; Lee, Eun-Shin ES; Kim, Ryong Nam RN; Park, Boyoung B; Yoon, Kyong-Ah KA; Park, Charny C; Lee, Eun Sook ES; Moon, Hyeong-Gon HG; Noh, Dong-Young DY; Kong, Sun-Young SY; Han, Wonshik W

Publication Date: 2020-07

Variant appearance in text: MSH2: 14C>A; Pro5Gln

PubMed Link: 32019277

Variant Present in the following documents:

• Main text
• crt-2019-559.pdf

View BVdb publication page

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Novel Genetic Markers for Early Detection of Elevated Breast Cancer Risk in Women.

International Journal Of Molecular Sciences

Wu, Bohua B; Peng, Yunhui Y; Eggert, Julia J; Alexov, Emil E

Publication Date: 2019-09-28

Variant appearance in text: MSH2: Pro5Gln

PubMed Link: 31569399

Variant Present in the following documents:

• Main text
• ijms-20-04828-s001.pdf
• ijms-20-04828.pdf

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: MSH2: 14C>A; Pro5Gln; rs56170584

PubMed Link: 31386297

Variant Present in the following documents:

• CAM4-8-5534-s001.xlsx, sheet 1

View BVdb publication page

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High prevalence of the MLH1 V384D germline mutation in patients with HER2-positive luminal B breast cancer.

Scientific Reports

Lee, Seung Eun SE; Lee, Hye Seung HS; Kim, Kyoung-Yeon KY; Park, Jung-Hoon JH; Roh, Hanseong H; Park, Ha Young HY; Kim, Wan-Seop WS

Publication Date: 2019-07-29

Variant appearance in text: MSH2: P5Q

PubMed Link: 31358837

Variant Present in the following documents:

• 41598_2019_47439_MOESM2_ESM.xlsx, sheet 5

View BVdb publication page

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Comparison of screening strategies for Lynch syndrome in patients with newly diagnosed endometrial cancer: a prospective cohort study in China.

Cancer Communications (London, England)

Chao, Xiaopei X; Li, Lei L; Wu, Ming M; Ma, Shuiqing S; Tan, Xianjie X; Zhong, Sen S; Bi, Yalan Y; Lang, Jinghe J

Publication Date: 2019-07-15

Variant appearance in text: MSH2: Pro5Gln

PubMed Link: 31307542

Variant Present in the following documents:

• Main text
• 40880_2019_Article_388.pdf

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: MSH2: 14C>A; Pro5Gln

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: MSH2: 14C>A; Pro5Gln

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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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: MSH2: P5Q

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: MSH2: P5Q

PubMed Link: 28706299

Variant Present in the following documents:

• emm2017142x5.xls, sheet 1
• 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: MSH2: 14C>A; Pro5Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: MSH2: 14C>A; Pro5His

PubMed Link: 23760103

Variant Present in the following documents:

• Main text
• ol-05-05-1710.pdf

View BVdb publication page

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