Publications:

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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: MSH2: L390F

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.xlsx, sheet 1

View BVdb publication page

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Integration of deep learning with Ramachandran plot molecular dynamics simulation for genetic variant classification.

Iscience

Tam, Benjamin B; Qin, Zixin Z; Zhao, Bojin B; Wang, San Ming SM; Lei, Chon Lok CL

Publication Date: 2023-03-17

Variant appearance in text: MSH2: 1168C>T; L390F

PubMed Link: 36879825

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc2.xlsx, sheet 3
• mmc4.xlsx, sheet 3

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: 1168C>T

PubMed Link: 36865205

Variant Present in the following documents:

• media-10.xlsx, sheet 1

View BVdb publication page

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Characterization of sebaceous and non-sebaceous cutaneous manifestations in patients with lynch syndrome: a systematic review.

Familial Cancer

Aziz, Shahram S; O'Sullivan, Hazel H; Heelan, Kara K; Alam, Afrina A; McVeigh, Terri P TP

Publication Date: 2022-11-23

Variant appearance in text: MSH2: 1168C>T; Leu390Phe

PubMed Link: 36418753

Variant Present in the following documents:

• 10689_2022_319_MOESM3_ESM.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: MSH2: L390F

PubMed Link: 36072793

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Identification of genetic polymorphisms in unexplained recurrent spontaneous abortion based on whole exome sequencing.

Annals Of Translational Medicine

Mou, Jiang-Tao JT; Huang, Shi-Xing SX; Yu, Li-Li LL; Xu, Jing J; Deng, Qiao-Ling QL; Xie, Yi-Shan YS; Deng, Kun K

Publication Date: 2022-05

Variant appearance in text: MSH2: L390F; rs17224367

PubMed Link: 35722368

Variant Present in the following documents:

• Main text
• atm-10-10-603.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: 1168C>T

PubMed Link: 35534218

Variant Present in the following documents:

• icu-63-294.pdf

View BVdb publication page

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Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.

Plos One

Ueda, Atsushi A; Osawa, Motoki M; Naito, Haruaki H; Ochiai, Eriko E; Kakimoto, Yu Y

Publication Date: 2022

Variant appearance in text: MSH2: 1168C>T; Leu390Phe; rs17224367

PubMed Link: 35486589

Variant Present in the following documents:

• pone.0267751.s001.xls, sheet 1

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: 1168C>T; Leu390Phe

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

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: 1168C>T; L390F; rs17224367

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5

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: 1168C>T; Leu390Phe; rs17224367

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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Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: MSH2: L390F; rs17224367

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports

von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I

Publication Date: 2021-03-05

Variant appearance in text: MSH2: 1168C>T; Leu390Phe; rs17224367

PubMed Link: 33674644

Variant Present in the following documents:

• 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk.

American Journal Of Human Genetics

Jia, Xiaoyan X; Burugula, Bala Bharathi BB; Chen, Victor V; Lemons, Rosemary M RM; Jayakody, Sajini S; Maksutova, Mariam M; Kitzman, Jacob O JO

Publication Date: 2021-01-07

Variant appearance in text: MSH2: Leu390Phe

PubMed Link: 33357406

Variant Present in the following documents:

• Main text
• mmc3.pdf
• main.pdf

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: 1168C>T; Leu390Phe

PubMed Link: 32849802

Variant Present in the following documents:

• Data_Sheet_1.xlsx, sheet 3

View BVdb publication page

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Combinatorial approach of in silico and in vitro evaluation of MLH1 variant associated with Lynch syndrome like metastatic colorectal cancer.

Bioscience Reports

Saleem, Komal K; Zaib, Tahir T; Ji, Wei W; Zhang, Chunhui C; Qin, Qian Q; Wang, Yusi Y; Xu, Lidan L; Yu, Hanfei H; Zhu, Siqi S; Dong, Kexian K; Si, Shuhan S; Jia, Xueyuan X; Wu, Jie J; Fu, Songbin S; Sun, Wenjing W

Publication Date: 2020-06-26

Variant appearance in text: MSH2: L390F

PubMed Link: 32432717

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cas9 activates the p53 pathway and selects for p53-inactivating mutations.

Nature Genetics

Enache, Oana M OM; Rendo, Veronica V; Abdusamad, Mai M; Lam, Daniel D; Davison, Desiree D; Pal, Sangita S; Currimjee, Naomi N; Hess, Julian J; Pantel, Sasha S; Nag, Anwesha A; Thorner, Aaron R AR; Doench, John G JG; Vazquez, Francisca F; Beroukhim, Rameen R; Golub, Todd R TR; Ben-David, Uri U

Publication Date: 2020-07

Variant appearance in text: MSH2: 1168C>T; L390F; rs17224367

PubMed Link: 32424350

Variant Present in the following documents:

• NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7

View BVdb publication page

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Mutation analysis of related genes in hamartoma polyp tissue of Peutz-Jeghers syndrome.

World Journal Of Gastroenterology

Zhang, Zhi Z; Duan, Fu-Xiao FX; Gu, Guo-Li GL; Yu, Peng-Fei PF

Publication Date: 2020-04-28

Variant appearance in text: MSH2: 1168C>T; Leu390Phe

PubMed Link: 32390703

Variant Present in the following documents:

• Main text
• WJG-26-1926.pdf

View BVdb publication page

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Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine

Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z

Publication Date: 2020-05

Variant appearance in text: MSH2: 1168C>T; Leu390Phe

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.xlsx, sheet 1

View BVdb publication page

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Genetic mutations in lung enteric adenocarcinoma identified using next-generation sequencing.

International Journal Of Clinical And Experimental Pathology

Lin, Li L; Zhuang, Wu W; Wang, Wenxian W; Xu, Chunwei C; Chen, Rongrong R; Guan, Yanfang Y; Yi, Xin X; Shao, Yun Y; Tai, Yanhong Y; Chen, Yanping Y; Wu, Meijuan M; Wei, Jianguo J; Chen, Gang G

Publication Date: 2017

Variant appearance in text: MSH2: L390F

PubMed Link: 31966835

Variant Present in the following documents:

• Main text

View BVdb publication page

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: MSH2: L390F

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology

Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA

Publication Date: 2019-10

Variant appearance in text: MSH2: L390F; rs17224367

PubMed Link: 31613886

Variant Present in the following documents:

• pcbi.1007453.s004.xlsx, sheet 6
• pcbi.1007453.s004.xlsx, sheet 2
• pcbi.1007453.s002.xlsx, sheet 1
• pcbi.1007453.s004.xlsx, sheet 7

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: Leu390Phe

PubMed Link: 31569399

Variant Present in the following documents:

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

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: MSH2: 1168C>T; L390F

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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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: MSH2: L390F

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 57
• 13073_2019_654_MOESM2_ESM.xlsx, sheet 55

View BVdb publication page

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Single-center study of Lynch syndrome screening in colorectal polyps.

Hereditary Cancer In Clinical Practice

Zhu, FangChao F; Pan, Da D; Zhang, Hui H; Ye, Qiong Q; Xu, PeiSong P; Pan, Jie J

Publication Date: 2019

Variant appearance in text: MSH2: 1168C>T

PubMed Link: 30918532

Variant Present in the following documents:

• Main text
• 13053_2019_Article_108.pdf

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: 1168C>T; Leu390Phe

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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Competitive evolution of NSCLC tumor clones and the drug resistance mechanism of first-generation EGFR-TKIs in Chinese NSCLC patients.

Heliyon

Deng, Qinfang Q; Xie, Boxiong B; Wu, Leilei L; Ji, Xianxiu X; Li, Chao C; Feng, Li L; Fang, Qiyu Q; Bao, Yuchen Y; Li, Jialu J; Jin, Shengnan S; Ding, Chunming C; Li, Yixue Y; Zhou, Songwen S

Publication Date: 2018-12

Variant appearance in text: MSH2: L390F

PubMed Link: 30603682

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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: MSH2: 1168C>T; L390F

PubMed Link: 30212499

Variant Present in the following documents:

• pone.0203553.s008.xlsx, sheet 2

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: MSH2: 1168C>T; L390F; rs17224367

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7

View BVdb publication page

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SMAD4 and NF1 mutations as potential biomarkers for poor prognosis to cetuximab-based therapy in Chinese metastatic colorectal cancer patients.

Bmc Cancer

Mei, Zhu Z; Shao, Yang W YW; Lin, Peinan P; Cai, Xiaomin X; Wang, Biao B; Ding, Yan Y; Ma, Xiangyuan X; Wu, Xue X; Xia, Yewei Y; Zhu, Dongqin D; Shu, Yongqian Y; Fu, Zan Z; Gu, Yanhong Y

Publication Date: 2018-04-27

Variant appearance in text: MSH2: L390F

PubMed Link: 29703253

Variant Present in the following documents:

• 12885_2018_4298_MOESM2_ESM.xlsx, sheet 1

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: MSH2: L390F

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: MSH2: L390F

PubMed Link: 29050249

Variant Present in the following documents:

• Main text
• oncotarget-08-69888.pdf

View BVdb publication page

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Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

Molecular Genetics & Genomic Medicine

DeRycke, Melissa S MS; Gunawardena, Shanaka S; Balcom, Jessica R JR; Pickart, Angela M AM; Waltman, Lindsey A LA; French, Amy J AJ; McDonnell, Shannon S; Riska, Shaun M SM; Fogarty, Zachary C ZC; Larson, Melissa C MC; Middha, Sumit S; Eckloff, Bruce W BW; Asmann, Yan W YW; Ferber, Matthew J MJ; Haile, Robert W RW; Gallinger, Steven S; Clendenning, Mark M; Rosty, Christophe C; Win, Aung K AK; Buchanan, Daniel D DD; Hopper, John L JL; Newcomb, Polly A PA; Le Marchand, Loic L; Goode, Ellen L EL; Lindor, Noralane M NM; Thibodeau, Stephen N SN

Publication Date: 2017-09

Variant appearance in text: MSH2: 1168C>T; Leu390Phe; rs17224367

PubMed Link: 28944238

Variant Present in the following documents:

• MGG3-5-553-s002.xlsx, sheet 2

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: L390F; rs17224367

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: MSH2: 1168C>T; Leu390Phe

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Lynch syndrome-related small intestinal adenocarcinomas.

Oncotarget

Jun, Sun-Young SY; Lee, Eui-Jin EJ; Kim, Mi-Ju MJ; Chun, Sung Min SM; Bae, Young Kyung YK; Hong, Soon Uk SU; Choi, Jene J; Kim, Joon Mee JM; Jang, Kee-Taek KT; Kim, Jung Yeon JY; Kim, Gwang Il GI; Jung, Soo Jin SJ; Yoon, Ghilsuk G; Hong, Seung-Mo SM

Publication Date: 2017-03-28

Variant appearance in text: MSH2: 1168C>T

PubMed Link: 28206961

Variant Present in the following documents:

• Main text
• oncotarget-08-21483.pdf

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: MSH2: 1168C>T; Leu390Phe; rs17224367

PubMed Link: 26900293

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: HNPCC1: L390F; rs17224367

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: MSH2: L390F

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: MSH2: L390F; rs17224367

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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Systematic study on genetic and epimutational profile of a cohort of Amsterdam criteria-defined Lynch Syndrome in Singapore.

Plos One

Liu, Yanqun Y; Chew, Min Hoe MH; Goh, Xue Wei XW; Tan, Soo Yong SY; Loi, Carol Tien Tau CT; Tan, Yuen Ming YM; Law, Hai Yang HY; Koh, Poh Koon PK; Tang, Choong Leong CL

Publication Date: 2014

Variant appearance in text: MSH2: 1168C>T; Leu390Phe

PubMed Link: 24710284

Variant Present in the following documents:

• Main text
• pone.0094170.pdf

View BVdb publication page

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Evaluation of ultra-deep targeted sequencing for personalized breast cancer care.

Breast Cancer Research : Bcr

Harismendy, Olivier O; Schwab, Richard B RB; Alakus, Hakan H; Yost, Shawn E SE; Matsui, Hiroko H; Hasteh, Farnaz F; Wallace, Anne M AM; Park, Hannah L HL; Madlensky, Lisa L; Parker, Barbara B; Carpenter, Philip M PM; Jepsen, Kristen K; Anton-Culver, Hoda H; Frazer, Kelly A KA

Publication Date: 2013-12-10

Variant appearance in text: rs17224367

PubMed Link: 24326041

Variant Present in the following documents:

• bcr3584-S1.pdf

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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: 1168C>T

PubMed Link: 23760103

Variant Present in the following documents:

• Main text
• ol-05-05-1710.pdf

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Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.

Human Mutation

Thompson, Bryony A BA; Greenblatt, Marc S MS; Vallee, Maxime P MP; Herkert, Johanna C JC; Tessereau, Chloe C; Young, Erin L EL; Adzhubey, Ivan A IA; Li, Biao B; Bell, Russell R; Feng, Bingjian B; Mooney, Sean D SD; Radivojac, Predrag P; Sunyaev, Shamil R SR; Frebourg, Thierry T; Hofstra, Robert M W RM; Sijmons, Rolf H RH; Boucher, Ken K; Thomas, Alun A; Goldgar, David E DE; Spurdle, Amanda B AB; Tavtigian, Sean V SV

Publication Date: 2013-01

Variant appearance in text: MSH2: Leu390Phe

PubMed Link: 22949387

Variant Present in the following documents:

• Main text

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Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer.

Clinical Gastroenterology And Hepatology : The Official Clinical Practice Journal Of The American Gastroenterological Association

Limburg, Paul J PJ; Harmsen, William S WS; Chen, Helen H HH; Gallinger, Steven S; Haile, Robert W RW; Baron, John A JA; Casey, Graham G; Woods, Michael O MO; Thibodeau, Stephen N SN; Lindor, Noralane M NM

Publication Date: 2011-06

Variant appearance in text: MSH2: 1168C>T; L390F

PubMed Link: 21056691

Variant Present in the following documents:

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Investigation on the role of nsSNPs in HNPCC genes--a bioinformatics approach.

Journal Of Biomedical Science

Doss, C George Priya CG; Sethumadhavan, Rao R

Publication Date: 2009-04-24

Variant appearance in text: MSH2: L390F; rs17224367

PubMed Link: 19389263

Variant Present in the following documents:

• Main text

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Detection of mismatch repair gene germline mutation carrier among Chinese population with colorectal cancer.

Bmc Cancer

Jin, Hei-Ying HY; Liu, Xiufang X; Li, Vicky Ka Ming VK; Ding, Yijiang Y; Yang, Bolin B; Geng, Jianxiang J; Lai, Rensheng R; Ding, Shuqing S; Ni, Min M; Zhao, Ronghua R

Publication Date: 2008-02-07

Variant appearance in text: MSH2: 1168C>T

PubMed Link: 18257912

Variant Present in the following documents:

• Main text
• 1471-2407-8-44.pdf

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Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae.

Genetics

Gammie, Alison E AE; Erdeniz, Naz N; Beaver, Julia J; Devlin, Barbara B; Nanji, Afshan A; Rose, Mark D MD

Publication Date: 2007-10

Variant appearance in text: MSH2: L390F

PubMed Link: 17720936

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• Main text

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MSH2 missense mutations alter cisplatin cytotoxicity and promote cisplatin-induced genome instability.

Nucleic Acids Research

Clodfelter, Jill E JE; B Gentry, Michael M; Drotschmann, Karin K

Publication Date: 2005

Variant appearance in text: MSH2: L390F

PubMed Link: 15947132

Variant Present in the following documents:

• Main text
• gki646.pdf

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