MSH2 c.2152C>T ;(p.Q718*)

Variant ID: 2-47703652-C-T

NM_000251.2(MSH2):c.2152C>T;(p.Q718*)

This variant was identified in 22 publications

View GRCh38 version.




Publications:


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: 2152C>T; Gln718Ter; rs587779139
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing identified novel mutations in a Chinese family with lynch syndrome.

Frontiers In Oncology
He, Wan W; Dong, Shaowei S; Shen, Jing J; Wu, Jiutong J; Zhao, Pan P; Li, Dongbing D; Wang, Dongliang D; Tang, Na N; Zou, Chang C
Publication Date: 2023

Variant appearance in text: MSH2: 2152C>T
PubMed Link: 36874103
Variant Present in the following documents:
  • fonc-13-1036356.pdf
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: MSH2: 2152C>T; Gln718Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Inherited mutations in Chinese patients with upper tract urothelial carcinoma.

Cell Reports. Medicine
Wu, Junlong J; Jin, Shengming S; Gu, Chengyuan C; Wei, Yu Y; Zhu, Yao Y; Necchi, Andrea A; Shariat, Shahrokh F SF; Pan, Jian J; Gan, Hualei H; Dai, Bo B; Zhang, Hailiang H; Shi, Guohai G; Zhu, Yu Y; Shen, Yijun Y; Zhu, Yiping Y; Ye, Dingwei D
Publication Date: 2022-12-23

Variant appearance in text: MSH2: 2152C>T; Q718*
PubMed Link: 36630951
Variant Present in the following documents:
  • mmc5.pdf
  • main.pdf
View BVdb publication page



Case report: Undifferentiated sarcoma with multiple tumors involved in Lynch syndrome: Unexpected favorable outcome to sintilimab combined with chemotherapy.

Frontiers In Oncology
Liu, Jiaying J; Chang, Xiaona X; Xiao, Guixiang G; Zhong, Jingmin J; Huang, Bo B; Zhang, Jiwei J; Gao, Beibei B; Peng, Gang G; Nie, Xiu X
Publication Date: 2022

Variant appearance in text: MSH2: 2152C>T; Gln718Ter
PubMed Link: 36457512
Variant Present in the following documents:
  • Main text
  • fonc-12-1014859.pdf
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: MSH2: Q718*; rs587779139
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 4
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: MSH2: Q718*; rs587779139
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 4
View BVdb publication page



The repertoire of germline variants in patients with early-onset rectal cancer.

Cancer Communications (London, England)
Beltrami, Caroline Moraes CM; do Canto, Luisa Matos LM; Villacis, Rolando André Rios RAR; Petersen, Annabeth Høgh AH; Aagaard, Mads Malik MM; Cury, Sarah Santiloni SS; Formiga, Maria Nirvana da Cruz MNDC; Junior, Samuel Aguiar SA; Rogatto, Silvia Regina SR
Publication Date: 2022-05

Variant appearance in text: MSH2: 2152C>T; Gln718Ter; rs587779139
PubMed Link: 35029067
Variant Present in the following documents:
  • CAC2-42-481-s003.xlsx, sheet 3
View BVdb publication page



Integrating real-time in vivo tumour genomes for longitudinal analysis and management of glioma recurrence.

Clinical And Translational Medicine
Sheng, Zhiyuan Z; Yu, Jinliang J; Deng, Kaiyuan K; Bu, Yage Y; Wu, Shuang S; Xu, Sensen S; Gao, Yushuai Y; Zhang, Qianqian Q; Yan, Zhaoyue Z; Bu, Chaojie C; Chen, Zhongcan Z; Gu, Jianjun J; Jia, Yan Y; Gao, Xinya X; Zemmar, Ajmal A; Sumardi, Fitri F; Hernesniemi, Juha J; Kong, Lingfei L; Liu, Gang G; Li, Ming M; Wang, Meiyun M; Li, Tianxiao T; Bu, Xingyao X
Publication Date: 2021-11

Variant appearance in text: MSH2: 2152C>T; Gln718Ter
PubMed Link: 34841677
Variant Present in the following documents:
  • CTM2-11-e567-s004.xlsx, sheet 5
View BVdb publication page



Tumor DNA From Tumor In Situ Fluid Reveals Mutation Landscape of Minimal Residual Disease After Glioma Surgery and Risk of Early Recurrence.

Frontiers In Oncology
Yu, Jinliang J; Sheng, Zhiyuan Z; Wu, Shuang S; Gao, Yushuai Y; Yan, Zhaoyue Z; Bu, Chaojie C; Gu, Jianjun J; Bu, Yage Y; Deng, Kaiyuan K; Xu, Sensen S; Chen, Zhongcan Z; Zhang, Qianqian Q; Zemmar, Ajmal A; Hernesniemi, Juha J; Wang, Meiyun M; Liu, Gang G; Li, Tianxiao T; Bu, Xingyao X
Publication Date: 2021

Variant appearance in text: MSH2: 2152C>T; Q718*
PubMed Link: 34712610
Variant Present in the following documents:
  • DataSheet_1.xls, sheet 5
View BVdb publication page



Sequencing for germline mutations in Swedish breast cancer families reveals novel breast cancer risk genes.

Scientific Reports
Helgadottir, Hafdis T HT; Thutkawkorapin, Jessada J; Lagerstedt-Robinson, Kristina K; Lindblom, Annika A
Publication Date: 2021-07-19

Variant appearance in text: MSH2: Q718*
PubMed Link: 34282249
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_94316.pdf
View BVdb publication page



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: 2152C>T; Q718X; rs587779139
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Mismatch repair deficiency is rare in bone and soft tissue tumors.

Histopathology
Lam, Suk Wai SW; Kostine, Marie M; de Miranda, Noel F C C NFCC; Schöffski, Patrick P; Lee, Che-Jui CJ; Morreau, Hans H; Bovée, Judith V M G JVMG
Publication Date: 2021-10

Variant appearance in text: MSH2: 2152C>T
PubMed Link: 33825202
Variant Present in the following documents:
  • Main text
  • HIS-79-509.pdf
View BVdb publication page



Characterization of the genomic landscape and actionable mutations in Chinese breast cancers by clinical sequencing.

Nature Communications
Lang, Guan-Tian GT; Jiang, Yi-Zhou YZ; Shi, Jin-Xiu JX; Yang, Fan F; Li, Xiao-Guang XG; Pei, Yu-Chen YC; Zhang, Chen-Hui CH; Ma, Ding D; Xiao, Yi Y; Hu, Peng-Chen PC; Wang, Hai H; Yang, Yun-Song YS; Guo, Lin-Wei LW; Lu, Xun-Xi XX; Xue, Meng-Zhu MZ; Wang, Peng P; Cao, A-Yong AY; Ling, Hong H; Wang, Zhong-Hua ZH; Yu, Ke-Da KD; Di, Gen-Hong GH; Li, Da-Qiang DQ; Wang, Yun-Jin YJ; Yu, Ying Y; Shi, Le-Ming LM; Hu, Xin X; Huang, Wei W; Shao, Zhi-Ming ZM
Publication Date: 2020-11-10

Variant appearance in text: MSH2: Q718*
PubMed Link: 33173047
Variant Present in the following documents:
  • 41467_2020_19342_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Clinical and Molecular Assessment of Patients with Lynch Syndrome and Sarcomas Underpinning the Association with MSH2 Germline Pathogenic Variants.

Cancers
de Angelis de Carvalho, Nathália N; Niitsuma, Bianca Naomi BN; Kozak, Vanessa Nascimento VN; Costa, Felipe D'almeida FD; de Macedo, Mariana Petaccia MP; Kupper, Bruna Elisa Catin BEC; Silva, Maria Letícia Gobo MLG; Formiga, Maria Nirvana MN; Volc, Sahlua Miguel SM; Aguiar Junior, Samuel S; Palmero, Edenir Inez EI; Casali-da-Rocha, José Cláudio JC; Carraro, Dirce Maria DM; Torrezan, Giovana Tardin GT
Publication Date: 2020-07-09

Variant appearance in text: MSH2: 2152C>T; Gln718Ter
PubMed Link: 32659967
Variant Present in the following documents:
  • Main text
  • cancers-12-01848.pdf
View BVdb publication page



Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome.

Cancer Medicine
Schneider, Nayê Balzan NB; Pastor, Tatiane T; Paula, André Escremim de AE; Achatz, Maria Isabel MI; Santos, Ândrea Ribeiro Dos ÂRD; Vianna, Fernanda Sales Luiz FSL; Rosset, Clévia C; Pinheiro, Manuela M; Ashton-Prolla, Patricia P; Moreira, Miguel Ângelo Martins MÂM; Palmero, Edenir Inêz EI; ,
Publication Date: 2018-05

Variant appearance in text: MSH2: 2152C>T; Gln718Ter; rs587779139
PubMed Link: 29575718
Variant Present in the following documents:
  • Main text
  • CAM4-7-2078.pdf
View BVdb publication page



A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.

Bmc Cancer
Rossi, Benedito Mauro BM; Palmero, Edenir Inêz EI; López-Kostner, Francisco F; Sarroca, Carlos C; Vaccaro, Carlos Alberto CA; Spirandelli, Florencia F; Ashton-Prolla, Patricia P; Rodriguez, Yenni Y; de Campos Reis Galvão, Henrique H; Reis, Rui Manuel RM; Escremim de Paula, André A; Capochin Romagnolo, Luis Gustavo LG; Alvarez, Karin K; Della Valle, Adriana A; Neffa, Florencia F; Kalfayan, Pablo German PG; Spirandelli, Enrique E; Chialina, Sergio S; Gutiérrez Angulo, Melva M; Castro-Mujica, Maria Del Carmen MDC; Sanchez de Monte, Julio J; Quispe, Richard R; da Silva, Sabrina Daniela SD; Rossi, Norma Teresa NT; Barletta-Carrillo, Claudia C; Revollo, Susana S; Taborga, Ximena X; Morillas, L Lena LL; Tubeuf, Hélène H; Monteiro-Santos, Erika Maria EM; Piñero, Tamara Alejandra TA; Dominguez-Barrera, Constantino C; Wernhoff, Patrik P; Martins, Alexandra A; Hovig, Eivind E; Møller, Pål P; Dominguez-Valentin, Mev M
Publication Date: 2017-09-05

Variant appearance in text: MSH2: Gln718*
PubMed Link: 28874130
Variant Present in the following documents:
  • Main text
  • 12885_2017_Article_3599.pdf
View BVdb publication page



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: 2152C>T; Gln718Ter
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.

Hereditary Cancer In Clinical Practice
Cruz-Correa, Marcia M; Pérez-Mayoral, Julyann J; Dutil, Julie J; Echenique, Miguel M; Mosquera, Rafael R; Rivera-Román, Keila K; Umpierre, Sharee S; Rodriguez-Quilichini, Segundo S; Gonzalez-Pons, Maria M; Olivera, Myrta I MI; Pardo, Sherly S; ,
Publication Date: 2017

Variant appearance in text: MSH2: 2152C>T; Gln718*
PubMed Link: 28127413
Variant Present in the following documents:
  • Main text
  • 13053_2017_Article_63.pdf
View BVdb publication page



Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05

Variant appearance in text: MSH2: Q718*
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072.pdf
  • ncomms12072-s6.xlsx, sheet 1
View BVdb publication page



Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome.

Plos One
Carneiro da Silva, Felipe F; Ferreira, José Roberto de Oliveira JR; Torrezan, Giovana Tardin GT; Figueiredo, Márcia Cristina Pena MC; Santos, Érika Maria Monteiro ÉM; Nakagawa, Wilson Toshihiko WT; Brianese, Rafael Canfield RC; Petrolini de Oliveira, Ligia L; Begnani, Maria Dirlei MD; Aguiar-Junior, Samuel S; Rossi, Benedito Mauro BM; Ferreira, Fábio de Oliveira Fde O; Carraro, Dirce Maria DM
Publication Date: 2015

Variant appearance in text: MSH2: 2152C>T; Gln718*
PubMed Link: 26437257
Variant Present in the following documents:
  • Main text
  • pone.0139753.pdf
View BVdb publication page



Mutation spectrum in South American Lynch syndrome families.

Hereditary Cancer In Clinical Practice
Dominguez-Valentin, Mev M; Nilbert, Mef M; Wernhoff, Patrik P; López-Köstner, Francisco F; Vaccaro, Carlos C; Sarroca, Carlos C; Palmero, Edenir Ines EI; Giraldo, Alejandro A; Ashton-Prolla, Patricia P; Alvarez, Karin K; Ferro, Alejandra A; Neffa, Florencia F; Caris, Junea J; Carraro, Dirce M DM; Rossi, Benedito M BM
Publication Date: 2013-12-18

Variant appearance in text: MSH2: 2152C>T; Q718X
PubMed Link: 24344984
Variant Present in the following documents:
  • Main text
  • 1897-4287-11-18.pdf
View BVdb publication page



Predictive models for mutations in mismatch repair genes: implication for genetic counseling in developing countries.

Bmc Cancer
Monteiro Santos, Erika Maria EM; Valentin, Mev Dominguez MD; Carneiro, Felipe F; de Oliveira, Ligia Petrolini LP; de Oliveira Ferreira, Fabio F; Junior, Samuel Aguiar SA; Nakagawa, Wilson Toshihiko WT; Gomy, Israel I; de Faria Ferraz, Victor Evangelista VE; da Silva Junior, Wilson Araujo WA; Carraro, Dirce Maria DM; Rossi, Benedito Mauro BM
Publication Date: 2012-02-09

Variant appearance in text: MSH2: 2152C>T; Gln718X
PubMed Link: 22321913
Variant Present in the following documents:
  • Main text
  • 1471-2407-12-64.pdf
View BVdb publication page