MSH2 c.1165C>T ;(p.R389*)

Variant ID: 2-47656969-C-T

NM_000251.2(MSH2):c.1165C>T;(p.R389*)

This variant was identified in 46 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: 1165C>T; Arg389Ter; rs587779075
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



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: 1165C>T
PubMed Link: 36865205
Variant Present in the following documents:
  • media-10.xlsx, sheet 1
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: 1165C>T; Arg389Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Bjui Compass
Mian, Abrar A; Wei, Jun J; Shi, Zhuqing Z; Rifkin, Andrew S AS; Zheng, S Lilly SL; Glaser, Alexander P AP; Kearns, James T JT; Helfand, Brian T BT; Xu, Jianfeng J
Publication Date: 2023-03

Variant appearance in text: MSH2: R389X
PubMed Link: 36816149
Variant Present in the following documents:
  • BCO2-4-156-s001.xlsx, sheet 1
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: 1165C>T; Arg389Ter
PubMed Link: 36457512
Variant Present in the following documents:
  • Main text
  • fonc-12-1014859.pdf
View BVdb publication page



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: 1165C>T; Arg389Ter
PubMed Link: 36418753
Variant Present in the following documents:
  • 10689_2022_319_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Lynch syndrome pre-screening and comprehensive characterization in a multi-center large cohort of Chinese patients with colorectal cancer.

Cancer Biology & Medicine
Li, Yan Y; Fan, Lihong L; Zheng, Jianming J; Nie, Xiu X; Sun, Yu Y; Feng, Qin Q; Lian, Shenyi S; Bai, Wenqi W; Cai, Weijing W; Yang, Yanan Y; Su, Bo B; Xi, Yanfeng Y; Lin, Dongmei D
Publication Date: 2022-06-01

Variant appearance in text: MSH2: 1165C>T; Arg389Ter
PubMed Link: 35638907
Variant Present in the following documents:
  • cbm-19-1235-s001.pdf
View BVdb publication page



Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell
Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K
Publication Date: 2022-03-03

Variant appearance in text: MSH2: 1165C>T; R389C
PubMed Link: 35176222
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Nature Biotechnology
Sánchez-Rivera, Francisco J FJ; Diaz, Bianca J BJ; Kastenhuber, Edward R ER; Schmidt, Henri H; Katti, Alyna A; Kennedy, Margaret M; Tem, Vincent V; Ho, Yu-Jui YJ; Leibold, Josef J; Paffenholz, Stella V SV; Barriga, Francisco M FM; Chu, Kevan K; Goswami, Sukanya S; Wuest, Alexandra N AN; Simon, Janelle M JM; Tsanov, Kaloyan M KM; Chakravarty, Debyani D; Zhang, Hongxin H; Leslie, Christina S CS; Lowe, Scott W SW; Dow, Lukas E LE
Publication Date: 2022-06

Variant appearance in text: MSH2: R389*
PubMed Link: 35165384
Variant Present in the following documents:
  • NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 4
  • NIHMS1760571-supplement-Supplementary_Table_S7.xlsx, sheet 5
  • NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 6
View BVdb publication page



The Prevalence of Pathogenic or Likely Pathogenic Germline Variants in a Nationwide Cohort of Young Colorectal Cancer Patients Using a Panel of 18 Genes Associated with Colorectal Cancer.

Cancers
Frostberg, Erik E; Petersen, Annabeth Høgh AH; Bojesen, Anders A; Rahr, Hans Bjarke HB; Lindebjerg, Jan J; Rønlund, Karina K
Publication Date: 2021-10-12

Variant appearance in text: MSH2: 1165C>T; Arg389Ter
PubMed Link: 34680242
Variant Present in the following documents:
  • Main text
  • cancers-13-05094.pdf
View BVdb publication page



Replacing the SpCas9 HNH domain by deaminases generates compact base editors with an alternative targeting scope.

Molecular Therapy. Nucleic Acids
Villiger, Lukas L; Schmidheini, Lukas L; Mathis, Nicolas N; Rothgangl, Tanja T; Marquart, Kim K; Schwank, Gerald G
Publication Date: 2021-12-03

Variant appearance in text: MSH2: 1165C>T; Arg389Ter
PubMed Link: 34631280
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
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: 1165C>T; R389*
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



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: 1165C>T; Arg389Ter; rs587779075
PubMed Link: 34172528
Variant Present in the following documents:
  • jmedgenet-2021-107886supp006.xlsx, sheet 2
View BVdb publication page



Landscape of somatic mutations in breast cancer: new opportunities for targeted therapies in Saudi Arabian patients.

Oncotarget
Barakeh, Duna H DH; Aljelaify, Rasha R; Bashawri, Yara Y; Almutairi, Amal A; Alqubaishi, Fatimah F; Alnamnakani, Mohammed M; Almubarak, Latifa L; Al Naeem, Abdulrahman A; Almushawah, Fatema F; Alrashed, May M; Abedalthagafi, Malak M
Publication Date: 2021-03-30

Variant appearance in text: MSH2: 1165C>T; R389X
PubMed Link: 33868589
Variant Present in the following documents:
  • oncotarget-12-686-s002.xlsx, sheet 1
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: R389*
PubMed Link: 33825202
Variant Present in the following documents:
  • HIS-79-509.pdf
View BVdb publication page



Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.

Cancer Communications (London, England)
Ferrer-Avargues, Rosario R; Castillejo, María Isabel MI; Dámaso, Estela E; Díez-Obrero, Virginia V; Garrigos, Noemí N; Molina, Tatiana T; Codoñer-Alejos, Alan A; Segura, Ángel Á; Sánchez-Heras, Ana Beatriz AB; Castillejo, Adela A; Soto, José Luis JL
Publication Date: 2021-03

Variant appearance in text: MSH2: 1165C>T; Arg389Ter
PubMed Link: 33630411
Variant Present in the following documents:
  • CAC2-41-218-s001.xlsx, sheet 3
  • CAC2-41-218-s001.xlsx, sheet 1
View BVdb publication page



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: MSH2: 1165C>T; Arg389Ter
PubMed Link: 33422027
Variant Present in the following documents:
  • Main text
  • 12885_2020_Article_7771.pdf
View BVdb publication page



Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
Publication Date: 2021-01

Variant appearance in text: MSH2: R389*
PubMed Link: 33314633
Variant Present in the following documents:
  • CAM4-10-53-s002.xlsx, sheet 1
View BVdb publication page



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: 1165C>T; Arg389Ter
PubMed Link: 32849802
Variant Present in the following documents:
  • Data_Sheet_1.xlsx, sheet 3
View BVdb publication page



Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications
Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U
Publication Date: 2020-07-20

Variant appearance in text: MSH2: R389X
PubMed Link: 32686686
Variant Present in the following documents:
  • 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Molecular tumor testing in patients with Lynch-like syndrome reveals a de novo mosaic variant of a mismatch repair gene transmitted to offspring.

European Journal Of Human Genetics : Ejhg
Guillerm, Erell E; Svrcek, Magali M; Bardier-Dupas, Armelle A; Basset, Noémie N; Coulet, Florence F; Colas, Chrystelle C
Publication Date: 2020-11

Variant appearance in text: MSH2: 1165C>T; Arg389*
PubMed Link: 32678338
Variant Present in the following documents:
  • Main text
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: 1165C>T; Arg389Ter
PubMed Link: 32659967
Variant Present in the following documents:
  • Main text
  • cancers-12-01848.pdf
View BVdb publication page



Germline variants and phenotypic spectrum in a Canadian cohort of individuals with diffuse gastric cancer.

Current Oncology (Toronto, Ont.)
Aronson, M M; Swallow, C C; Govindarajan, A A; Semotiuk, K K; Cohen, Z Z; Kaurah, P P; Velsher, L L; Ambus, I I; Buckley, K K; Forster-Gibson, C C; Meschino, W S WS; Blumenthal, A A; Kim, R H RH; Brar, S S
Publication Date: 2020-04

Variant appearance in text: MSH2: 1165C>T
PubMed Link: 32489267
Variant Present in the following documents:
  • Main text
View BVdb publication page



Latin American Study of Hereditary Breast and Ovarian Cancer LACAM: A Genomic Epidemiology Approach.

Frontiers In Oncology
Oliver, Javier J; Quezada Urban, Rosalía R; Franco Cortés, Claudia Alejandra CA; Díaz Velásquez, Clara Estela CE; Montealegre Paez, Ana Lorena AL; Pacheco-Orozco, Rafael Adrián RA; Castro Rojas, Carlos C; García-Robles, Reggie R; López Rivera, Juan Javier JJ; Gaitán Chaparro, Sandra S; Gómez, Ana Milena AM; Suarez Obando, Fernando F; Giraldo, Gustavo G; Maya, Maria Isabel MI; Hurtado-Villa, Paula P; Sanchez, Ana Isabel AI; Serrano, Norma N; Orduz Galvis, Ana Isabel AI; Aruachan, Sandra S; Nuñez Castillo, Johanna J; Frecha, Cecilia C; Riggi, Cecilia C; Jauk, Federico F; Gómez García, Eva María EM; Carranza, Claudia Lorena CL; Zamora, Vanessa V; Torres Mejía, Gabriela G; Romieu, Isabelle I; Castañeda, Carlos Arturo CA; Castillo, Miluska M; Gitler, Rina R; Antoniano, Adriana A; Rojas Jiménez, Ernesto E; Romero Cruz, Luis Enrique LE; Vallejo Lecuona, Fernando F; Delgado Enciso, Iván I; Martínez Rizo, Abril Bernardette AB; Flores Carranza, Alejandro A; Benites Godinez, Verónica V; Méndez Catalá, Claudia Fabiola CF; Herrera, Luis Alonso LA; Chirino, Yolanda Irasema YI; Terrazas, Luis Ignacio LI; Perdomo, Sandra S; Vaca Paniagua, Felipe F
Publication Date: 2019

Variant appearance in text: MSH2: R389X
PubMed Link: 31921681
Variant Present in the following documents:
  • Main text
View BVdb publication page



Retained mismatch repair protein expression occurs in approximately 6% of microsatellite instability-high cancers and is associated with missense mutations in mismatch repair genes.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Hechtman, Jaclyn F JF; Rana, Satshil S; Middha, Sumit S; Stadler, Zsofia K ZK; Latham, Alicia A; Benayed, Ryma R; Soslow, Robert R; Ladanyi, Marc M; Yaeger, Rona R; Zehir, Ahmet A; Shia, Jinru J
Publication Date: 2020-05

Variant appearance in text: MSH2: R389*
PubMed Link: 31857677
Variant Present in the following documents:
  • Main text
  • nihms-1541744.pdf
View BVdb publication page



Japanese Society for Cancer of the Colon and Rectum (JSCCR) Guidelines 2016 for the Clinical Practice of Hereditary Colorectal Cancer (Translated Version).

Journal Of The Anus, Rectum And Colon
Ishida, Hideyuki H; Yamaguchi, Tatsuro T; Tanakaya, Kohji K; Akagi, Kiwamu K; Inoue, Yasuhiro Y; Kumamoto, Kensuke K; Shimodaira, Hideki H; Sekine, Shigeki S; Tanaka, Toshiaki T; Chino, Akiko A; Tomita, Naohiro N; Nakajima, Takeshi T; Hasegawa, Hirotoshi H; Hinoi, Takao T; Hirasawa, Akira A; Miyakura, Yasuyuki Y; Murakami, Yoshie Y; Muro, Kei K; Ajioka, Yoichi Y; Hashiguchi, Yojiro Y; Ito, Yoshinori Y; Saito, Yutaka Y; Hamaguchi, Tetsuya T; Ishiguro, Megumi M; Ishihara, Soichiro S; Kanemitsu, Yukihide Y; Kawano, Hiroshi H; Kinugasa, Yusuke Y; Kokudo, Norihiro N; Murofushi, Keiko K; Nakajima, Takako T; Oka, Shiro S; Sakai, Yoshiharu Y; Tsuji, Akihiko A; Uehara, Keisuke K; Ueno, Hideki H; Yamazaki, Kentaro K; Yoshida, Masahiro M; Yoshino, Takayuki T; Boku, Narikazu N; Fujimori, Takahiro T; Itabashi, Michio M; Koinuma, Nobuo N; Morita, Takayuki T; Nishimura, Genichi G; Sakata, Yuh Y; Shimada, Yasuhiro Y; Takahashi, Keiichi K; Tanaka, Shinji S; Tsuruta, Osamu O; Yamaguchi, Toshiharu T; Sugihara, Kenichi K; Watanabe, Toshiaki T; ,
Publication Date: 2018

Variant appearance in text: MSH2: 1165C>T
PubMed Link: 31773066
Variant Present in the following documents:
  • Main text
View BVdb publication page



High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Nature Medicine
Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS
Publication Date: 2019-12

Variant appearance in text: MSH2: 1165C>T; R389C
PubMed Link: 31768066
Variant Present in the following documents:
  • NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 5
View BVdb publication page



Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high-risk Chinese individuals.

Cancer Science
Shao, Di D; Cheng, Shaomin S; Guo, Fengming F; Zhu, Changbin C; Yuan, Yuying Y; Hu, Kunling K; Wang, Zhe Z; Meng, Xuan X; Jin, Xin X; Xiong, Yun Y; Chai, Xianghua X; Li, Hong H; Zhang, Yu Y; Zhang, Hongyun H; Liu, Jihong J; Ye, Mingzhi M
Publication Date: 2020-02

Variant appearance in text: MSH2: 1165C>T; Arg389*
PubMed Link: 31742824
Variant Present in the following documents:
  • CAS-111-647-s001.xlsx, sheet 1
View BVdb publication page



Full-length transcript amplification and sequencing as universal method to test mRNA integrity and biallelic expression in mismatch repair genes.

European Journal Of Human Genetics : Ejhg
Morak, Monika M; Schaefer, Kerstin K; Steinke-Lange, Verena V; Koehler, Udo U; Keinath, Susanne S; Massdorf, Trisari T; Mauracher, Brigitte B; Rahner, Nils N; Bailey, Jessica J; Kling, Christiane C; Haeusser, Tanja T; Laner, Andreas A; Holinski-Feder, Elke E
Publication Date: 2019-12

Variant appearance in text: MSH2: 1165C>T; Arg389*
PubMed Link: 31332305
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive Paired Tumor/Germline Testing for Lynch Syndrome: Bringing Resolution to the Diagnostic Process.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Salvador, Monalyn U MU; Truelson, Melissa R F MRF; Mason, Carla C; Souders, Beth B; LaDuca, Holly H; Dougall, Brittany B; Black, Mary Helen MH; Fulk, Kelly K; Profato, Jessica J; Gutierrez, Stephanie S; Jasperson, Kory K; Tippin-Davis, Brigette B; Lu, Hsiao-Mei HM; Gray, Phillip P; Shah, Swati S; Chao, Elizabeth C EC; Ghahramani, Negar N; Landsverk, Megan M; Gau, Chia-Ling CL; Chen, Daniel D; Pronold, Melissa M
Publication Date: 2019-03-10

Variant appearance in text: MSH2: R389*
PubMed Link: 30702970
Variant Present in the following documents:
  • JCO.18.00696.pdf
View BVdb publication page



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: R389X
PubMed Link: 30603682
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



TumorNext-Lynch-MMR: a comprehensive next generation sequencing assay for the detection of germline and somatic mutations in genes associated with mismatch repair deficiency and Lynch syndrome.

Oncotarget
Gray, Phillip N PN; Tsai, Pei P; Chen, Daniel D; Wu, Sitao S; Hoo, Jayne J; Mu, Wenbo W; Li, Bing B; Vuong, Huy H; Lu, Hsiao-Mei HM; Batth, Navanjot N; Willett, Sara S; Uyeda, Lisa L; Shah, Swati S; Gau, Chia-Ling CL; Umali, Monalyn M; Espenschied, Carin C; Janicek, Mike M; Brown, Sandra S; Margileth, David D; Dobrea, Lavinia L; Wagman, Lawrence L; Rana, Huma H; Hall, Michael J MJ; Ross, Theodora T; Terdiman, Jonathan J; Cullinane, Carey C; Ries, Savita S; Totten, Ellen E; Elliott, Aaron M AM
Publication Date: 2018-04-17

Variant appearance in text: MSH2: R389*
PubMed Link: 29755653
Variant Present in the following documents:
  • oncotarget-09-20304.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: Arg389*
PubMed Link: 28874130
Variant Present in the following documents:
  • Main text
  • 12885_2017_Article_3599.pdf
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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: 1165C>T; Arg389Ter
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
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First-in-human trial of multikinase VEGF inhibitor regorafenib and anti-EGFR antibody cetuximab in advanced cancer patients.

Jci Insight
Subbiah, Vivek V; Khawaja, Muhammad Rizwan MR; Hong, David S DS; Amini, Behrang B; Yungfang, Jiang J; Liu, Hui H; Johnson, Adrienne A; Schrock, Alexa B AB; Ali, Siraj M SM; Sun, James X JX; Fabrizio, David D; Piha-Paul, Sarina S; Fu, Siqing S; Tsimberidou, Apostolia M AM; Naing, Aung A; Janku, Filip F; Karp, Daniel D DD; Overman, Michael M; Eng, Cathy C; Kopetz, Scott S; Meric-Bernstam, Funda F; Falchook, Gerald S GS
Publication Date: 2017-04-20

Variant appearance in text: MSH2: R389*
PubMed Link: 28422758
Variant Present in the following documents:
  • Main text
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Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One
LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC
Publication Date: 2017

Variant appearance in text: MSH2: 1165C>T; R389*
PubMed Link: 28152038
Variant Present in the following documents:
  • pone.0170843.s004.xlsx, sheet 1
  • pone.0170843.s003.xlsx, sheet 1
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Detection of Mismatch Repair Deficiency and Microsatellite Instability in Colorectal Adenocarcinoma by Targeted Next-Generation Sequencing.

The Journal Of Molecular Diagnostics : Jmd
Nowak, Jonathan A JA; Yurgelun, Matthew B MB; Bruce, Jacqueline L JL; Rojas-Rudilla, Vanesa V; Hall, Dimity L DL; Shivdasani, Priyanka P; Garcia, Elizabeth P EP; Agoston, Agoston T AT; Srivastava, Amitabh A; Ogino, Shuji S; Kuo, Frank C FC; Lindeman, Neal I NI; Dong, Fei F
Publication Date: 2017-01

Variant appearance in text: MSH2: 1165C>T; R389*
PubMed Link: 27863258
Variant Present in the following documents:
  • Main text
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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: R389X
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072-s2.xlsx, sheet 5
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Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.

Nature Communications
Chubb, Daniel D; Broderick, Peter P; Dobbins, Sara E SE; Frampton, Matthew M; Kinnersley, Ben B; Penegar, Steven S; Price, Amy A; Ma, Yussanne P YP; Sherborne, Amy L AL; Palles, Claire C; Timofeeva, Maria N MN; Bishop, D Timothy DT; Dunlop, Malcolm G MG; Tomlinson, Ian I; Houlston, Richard S RS
Publication Date: 2016-06-22

Variant appearance in text: MSH2: 1165C>T; Arg389Ter
PubMed Link: 27329137
Variant Present in the following documents:
  • ncomms11883-s1.pdf
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Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Susswein, Lisa R LR; Marshall, Megan L ML; Nusbaum, Rachel R; Vogel Postula, Kristen J KJ; Weissman, Scott M SM; Yackowski, Lauren L; Vaccari, Erica M EM; Bissonnette, Jeffrey J; Booker, Jessica K JK; Cremona, M Laura ML; Gibellini, Federica F; Murphy, Patricia D PD; Pineda-Alvarez, Daniel E DE; Pollevick, Guido D GD; Xu, Zhixiong Z; Richard, Gabi G; Bale, Sherri S; Klein, Rachel T RT; Hruska, Kathleen S KS; Chung, Wendy K WK
Publication Date: 2016-08

Variant appearance in text: MSH2: 1165C>T; Arg389Ter
PubMed Link: 26681312
Variant Present in the following documents:
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Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Jurgens, Julie J; Ling, Hua H; Hetrick, Kurt K; Pugh, Elizabeth E; Schiettecatte, Francois F; Doheny, Kimberly K; Hamosh, Ada A; Avramopoulos, Dimitri D; Valle, David D; Sobreira, Nara N
Publication Date: 2015-10

Variant appearance in text: MSH2: 1165C>T; Arg389*
PubMed Link: 25569433
Variant Present in the following documents:
  • Main text
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High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry.

Familial Cancer
Rosty, Christophe C; Walsh, Michael D MD; Lindor, Noralane M NM; Thibodeau, Stephen N SN; Mundt, Erin E; Gallinger, Steven S; Aronson, Melyssa M; Pollett, Aaron A; Baron, John A JA; Pearson, Sally S; Clendenning, Mark M; Walters, Rhiannon J RJ; Nagler, Belinda N BN; Crawford, William J WJ; Young, Joanne P JP; Winship, Ingrid I; Win, Aung Ko AK; Hopper, John L JL; Jenkins, Mark A MA; Buchanan, Daniel D DD
Publication Date: 2014-12

Variant appearance in text: MSH2: 1165C>T; Arg389X
PubMed Link: 25117503
Variant Present in the following documents:
  • Main text
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Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch syndrome and FAP patients.

The Journal Of Molecular Diagnostics : Jmd
Dymerska, Dagmara D; Serrano-Fernández, Pablo P; Suchy, Janina J; Pławski, Andrzej A; Słomski, Ryszard R; Kaklewski, Krzysztof K; Scott, Rodney J RJ; Gronwald, Jacek J; Kładny, Józef J; Byrski, Tomasz T; Huzarski, Tomasz T; Lubiński, Jan J; Kurzawski, Grzegorz G
Publication Date: 2010-01

Variant appearance in text: MSH2: 1165C>T
PubMed Link: 20007843
Variant Present in the following documents:
  • Main text
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Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario.

Hereditary Cancer In Clinical Practice
Choi, Yun-Hee YH; Cotterchio, Michelle M; McKeown-Eyssen, Gail G; Neerav, Monga M; Bapat, Bharati B; Boyd, Kevin K; Gallinger, Steven S; McLaughlin, John J; Aronson, Melyssa M; Briollais, Laurent L
Publication Date: 2009-08-23

Variant appearance in text: MSH2: 1165C>T; Arg389X
PubMed Link: 19698169
Variant Present in the following documents:
  • Main text
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Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer.

British Journal Of Cancer
Overbeek, L I H LI; Kets, C M CM; Hebeda, K M KM; Bodmer, D D; van der Looij, E E; Willems, R R; Goossens, M M; Arts, N N; Brunner, H G HG; van Krieken, J H J M JH; Hoogerbrugge, N N; Ligtenberg, M J L MJ
Publication Date: 2007-05-21

Variant appearance in text: MSH2: 1165C>T; Arg389X
PubMed Link: 17453009
Variant Present in the following documents:
  • Main text
  • 6603754a.pdf
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Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer.

Jama
Casey, Graham G; Lindor, Noralane M NM; Papadopoulos, Nickolas N; Thibodeau, Stephen N SN; Moskow, John J; Steelman, Scott S; Buzin, Carolyn H CH; Sommer, Steve S SS; Collins, Christine E CE; Butz, Malinda M; Aronson, Melyssa M; Gallinger, Steven S; Barker, Melissa A MA; Young, Joanne P JP; Jass, Jeremy R JR; Hopper, John L JL; Diep, Anh A; Bapat, Bharati B; Salem, Michael M; Seminara, Daniela D; Haile, Robert R; ,
Publication Date: 2005-02-16

Variant appearance in text: MSH2: 1165C>T; R389X
PubMed Link: 15713769
Variant Present in the following documents:
  • Main text
View BVdb publication page