MLH1 c.676C>T ;(p.R226*)

Variant ID: 3-37053589-C-T

NM_000249.3(MLH1):c.676C>T;(p.R226*)

This variant was identified in 56 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: MLH1: 676C>T; Arg226Ter; rs63751615
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 3
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: MLH1: 676C>T; Arg226Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.

Genome Biology
Scott, Anthony A; Hernandez, Felicia F; Chamberlin, Adam A; Smith, Cathy C; Karam, Rachid R; Kitzman, Jacob O JO
Publication Date: 2022-12-22

Variant appearance in text: MLH1: 676C>T; Arg226Ter
PubMed Link: 36550560
Variant Present in the following documents:
  • Main text
  • 13059_2022_2839_MOESM3_ESM.xlsx, sheet 1
  • 13059_2022_Article_2839.pdf
View BVdb publication page



Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center.

Esmo Open
Poliani, L L; Greco, L L; Barile, M M; Buono, A Dal AD; Bianchi, P P; Basso, G G; Giatti, V V; Genuardi, M M; Malesci, A A; Laghi, L L; ,
Publication Date: 2022-11-07

Variant appearance in text: MLH1: 676C>T; Arg226Ter
PubMed Link: 36356413
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Phenotypic plasticity and genetic control in colorectal cancer evolution.

Nature
Househam, Jacob J; Heide, Timon T; Cresswell, George D GD; Spiteri, Inmaculada I; Kimberley, Chris C; Zapata, Luis L; Lynn, Claire C; James, Chela C; Mossner, Maximilian M; Fernandez-Mateos, Javier J; Vinceti, Alessandro A; Baker, Ann-Marie AM; Gabbutt, Calum C; Berner, Alison A; Schmidt, Melissa M; Chen, Bingjie B; Lakatos, Eszter E; Gunasri, Vinaya V; Nichol, Daniel D; Costa, Helena H; Mitchinson, Miriam M; Ramazzotti, Daniele D; Werner, Benjamin B; Iorio, Francesco F; Jansen, Marnix M; Caravagna, Giulio G; Barnes, Chris P CP; Shibata, Darryl D; Bridgewater, John J; Rodriguez-Justo, Manuel M; Magnani, Luca L; Sottoriva, Andrea A; Graham, Trevor A TA
Publication Date: 2022-11

Variant appearance in text: MLH1: R226*
PubMed Link: 36289336
Variant Present in the following documents:
  • 41586_2022_5311_MOESM9_ESM.xlsx, sheet 4
  • 41586_2022_5311_MOESM10_ESM.xlsx, sheet 1
  • 41586_2022_5311_MOESM9_ESM.xlsx, sheet 3
View BVdb publication page



InSiGHT 2022 Abstract Publishing and Best Abstract Awards.

Familial Cancer
Publication Date: 2022-10

Variant appearance in text: MLH1: R226X
PubMed Link: 36260238
Variant Present in the following documents:
  • 10689_2022_Article_312.pdf
View BVdb publication page



Mutational landscape of high-grade B-cell lymphoma with MYC-, BCL2 and/or BCL6 rearrangements characterized by whole-exome sequencing.

Haematologica
Künstner, Axel A; Witte, Hanno M HM; Riedl, Jörg J; Bernard, Veronica V; Stölting, Stephanie S; Merz, Hartmut H; Olschewski, Vito V; Peter, Wolfgang W; Ketzer, Julius J; Busch, Yannik Y; Trojok, Peter P; Bubnoff, Nikolas von NV; Busch, Hauke H; Feller, Alfred C AC; Gebauer, Niklas N
Publication Date: 2022-08-01

Variant appearance in text: MLH1: R226X; rs63751615
PubMed Link: 34788985
Variant Present in the following documents:
  • 2021_279631_KUNSTNER_TABS5_SUPPL.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: MLH1: 676C>T; R226*
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
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: MLH1: 676C>T; Arg226Ter; rs63751615
PubMed Link: 34172528
Variant Present in the following documents:
  • jmedgenet-2021-107886supp006.xlsx, sheet 1
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: MLH1: 676C>T; Arg226Ter; rs63751615
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



Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.

Plos One
Akolkar, Dadasaheb D; Patil, Darshana D; Srivastava, Navin N; Patil, Revati R; Datta, Vineet V; Apurwa, Sachin S; Yashwante, Nitin N; Dhasarathan, Raja R; Gosavi, Rahul R; John, Jinumary J; Khan, Shabishta S; Jadhav, Ninad N; Mene, Priti P; Ahire, Dhanashri D; Pawar, Sushant S; Bodke, Harshal H; Sahoo, Subhraline S; Nile, Arun A; Saindane, Dinesh D; Darokar, Harshal H; Devhare, Pradip P; Srinivasan, Ajay A; Datar, Rajan R
Publication Date: 2021

Variant appearance in text: MLH1: R226*
PubMed Link: 33556149
Variant Present in the following documents:
  • pone.0246048.s008.xlsx, sheet 1
View BVdb publication page



Implementing genomic screening in diverse populations.

Genome Medicine
Abul-Husn, Noura S NS; Soper, Emily R ER; Braganza, Giovanna T GT; Rodriguez, Jessica E JE; Zeid, Natasha N; Cullina, Sinead S; Bobo, Dean D; Moscati, Arden A; Merkelson, Amanda A; Loos, Ruth J F RJF; Cho, Judy H JH; Belbin, Gillian M GM; Suckiel, Sabrina A SA; Kenny, Eimear E EE
Publication Date: 2021-02-05

Variant appearance in text: MLH1: 676C>T; Arg226Ter
PubMed Link: 33546753
Variant Present in the following documents:
  • 13073_2021_832_MOESM1_ESM.pdf
View BVdb publication page



Double somatic mismatch repair gene pathogenic variants as common as Lynch syndrome among endometrial cancer patients.

Gynecologic Oncology
Hampel, Heather H; Pearlman, Rachel R; de la Chapelle, Albert A; Pritchard, Colin C CC; Zhao, Weiqiang W; Jones, Dan D; Yilmaz, Ahmet A; Chen, Wei W; Frankel, Wendy L WL; Suarez, Adrian A AA; Cosgrove, Casey C; Backes, Floor F; Copeland, Larry L; Fowler, Jeffrey J; O'Malley, David D; Salani, Ritu R; McElroy, Joseph P JP; Stanich, Peter P PP; Goodfellow, Paul P; Cohn, David E DE
Publication Date: 2021-01

Variant appearance in text: MLH1: 676C>T
PubMed Link: 33393477
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prevalence of mismatch repair deficiency and Lynch syndrome in a cohort of unselected small bowel adenocarcinomas.

Journal Of Clinical Pathology
Suerink, Manon M; Kilinç, Gül G; Terlouw, Diantha D; Hristova, Hristina H; Sensuk, Lily L; van Egmond, Demi D; Farina Sarasqueta, Arantza A; Langers, Alexandra M J AMJ; van Wezel, Tom T; Morreau, Hans H; Nielsen, Maartje M; ,
Publication Date: 2021-11

Variant appearance in text: MLH1: 676C>T
PubMed Link: 33046565
Variant Present in the following documents:
  • jclinpath-2020-207040supp003.pdf
View BVdb publication page



Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors.

Journal Of Translational Medicine
Li, Jiaping J; Jiang, Wei W; Wei, Jinwang J; Zhang, Jianwei J; Cai, Linbo L; Luo, Minjie M; Wang, Zhan Z; Sun, Wending W; Wang, Shengzhou S; Wang, Chen C; Dai, Chun C; Liu, Jun J; Wang, Guan G; Wang, Jiping J; Xu, Qiang Q; Deng, Yanhong Y
Publication Date: 2020-08-01

Variant appearance in text: MLH1: R226*
PubMed Link: 32738923
Variant Present in the following documents:
  • 12967_2020_2449_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals.

Cancers
Dámaso, Estela E; González-Acosta, Maribel M; Vargas-Parra, Gardenia G; Navarro, Matilde M; Balmaña, Judith J; Ramon Y Cajal, Teresa T; Tuset, Noemí N; Thompson, Bryony A BA; Marín, Fátima F; Fernández, Anna A; Gómez, Carolina C; Velasco, Àngela À; Solanes, Ares A; Iglesias, Sílvia S; Urgel, Gisela G; López, Consol C; Del Valle, Jesús J; Campos, Olga O; Santacana, Maria M; Matias-Guiu, Xavier X; Lázaro, Conxi C; Valle, Laura L; Brunet, Joan J; Pineda, Marta M; Capellá, Gabriel G
Publication Date: 2020-07-05

Variant appearance in text: MLH1: 676C>T; Arg226*
PubMed Link: 32635641
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic Alterations of NTRK, POLE, ERBB2, and Microsatellite Instability Status in Chinese Patients with Colorectal Cancer.

The Oncologist
Guo, Yun Y; Guo, Xian-Ling XL; Wang, Shuang S; Chen, Xinyu X; Shi, Jiaochun J; Wang, Jian J; Wang, Kai K; Klempner, Samuel J SJ; Wang, Weifeng W; Xiao, Min M
Publication Date: 2020-11

Variant appearance in text: MLH1: R226*
PubMed Link: 32627883
Variant Present in the following documents:
  • Main text
  • ONCO-25-e1671.pdf
View BVdb publication page



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: MLH1: 676C>T; R226*; rs63751615
PubMed Link: 32424350
Variant Present in the following documents:
  • NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7
View BVdb publication page



Feasibility of next-generation sequencing in clinical practice: results of a pilot study in the Department of Precision Medicine at the University of Campania 'Luigi Vanvitelli'.

Esmo Open
De Falco, Vincenzo V; Poliero, Luca L; Vitello, Pietro Paolo PP; Ciardiello, Davide D; Vitale, Pasquale P; Zanaletti, Nicoletta N; Giunta, Emilio Francesco EF; Terminiello, Marinella M; Caputo, Vincenza V; Carlino, Francesca F; Di Liello, Raimondo R; Ventriglia, Anna A; Famiglietti, Vincenzo V; Martinelli, Erika E; Morgillo, Floriana F; Orditura, Michele M; De Vita, Ferdinando F; Fasano, Morena M; Napolitano, Stefania S; Martini, Giulia G; Della Corte, Carminia Maria CM; Franco, Renato R; Altucci, Lucia L; Ciardiello, Fortunato F; Troiani, Teresa T
Publication Date: 2020-03

Variant appearance in text: MLH1: R226*
PubMed Link: 32234730
Variant Present in the following documents:
  • esmoopen-2020-000675supp003.pdf
View BVdb publication page



Landscape of Germline Mutations in DNA Repair Genes for Breast Cancer in Latin America: Opportunities for PARP-Like Inhibitors and Immunotherapy.

Genes
Urbina-Jara, Laura Keren LK; Rojas-Martinez, Augusto A; Martinez-Ledesma, Emmanuel E; Aguilar, Dione D; Villarreal-Garza, Cynthia C; Ortiz-Lopez, Rocio R
Publication Date: 2019-10-10

Variant appearance in text: MLH1: 676C>T; rs63751615
PubMed Link: 31658756
Variant Present in the following documents:
  • Main text
  • genes-10-00786.pdf
View BVdb publication page



Exploratory findings from a prematurely closed international, multicentre, academic trial: RAVELLO, a phase III study of regorafenib versus placebo as maintenance therapy after first-line treatment in RAS wild-type metastatic colorectal cancer.

Esmo Open
Cardone, Claudia C; Martinelli, Erika E; Troiani, Teresa T; Sforza, Vincenzo V; Avallone, Antonio A; Nappi, Anna A; Montesarchio, Vincenzo V; Andreozzi, Francesca F; Biglietto, Maria M; Calabrese, Filomena F; Bordonaro, Roberto R; Cordio, Stefano S; Bregni, Giacomo G; Febbraro, Antonio A; Garcia-Carbonero, Rocio R; Feliu, Jaime J; Cervantes, Andrés A; Ciardiello, Fortunato F
Publication Date: 2019

Variant appearance in text: MLH1: R226*
PubMed Link: 31555481
Variant Present in the following documents:
  • Main text
  • esmoopen-2019-000519.pdf
View BVdb publication page



High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.

Journal Of Medical Genetics
González-Acosta, Maribel M; Marín, Fátima F; Puliafito, Benjamin B; Bonifaci, Nuria N; Fernández, Anna A; Navarro, Matilde M; Salvador, Hector H; Balaguer, Francesc F; Iglesias, Silvia S; Velasco, Angela A; Grau Garces, Elia E; Moreno, Victor V; Gonzalez-Granado, Luis Ignacio LI; Guerra-García, Pilar P; Ayala, Rosa R; Florkin, Benoît B; Kratz, Christian C; Ripperger, Tim T; Rosenbaum, Thorsten T; Januszkiewicz-Lewandowska, Danuta D; Azizi, Amedeo A AA; Ragab, Iman I; Nathrath, Michaela M; Pander, Hans-Jürgen HJ; Lobitz, Stephan S; Suerink, Manon M; Dahan, Karin K; Imschweiler, Thomas T; Demirsoy, Ugur U; Brunet, Joan J; Lázaro, Conxi C; Rueda, Daniel D; Wimmer, Katharina K; Capellá, Gabriel G; Pineda, Marta M
Publication Date: 2020-04

Variant appearance in text: MLH1: 676C>T; Arg226*
PubMed Link: 31494577
Variant Present in the following documents:
  • jmedgenet-2019-106272supp001.xlsx, sheet 1
View BVdb publication page



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: MLH1: R226*
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 40
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 46
View BVdb publication page



Identification of novel pathogenic MSH2 mutation and new DNA repair genes variants: investigation of a Tunisian Lynch syndrome family with discordant twins.

Journal Of Translational Medicine
Jaballah-Gabteni, Amira A; Tounsi, Haifa H; Kabbage, Maria M; Hamdi, Yosr Y; Elouej, Sahar S; Ben Ayed, Ines I; Medhioub, Mouna M; Mahmoudi, Moufida M; Dallali, Hamza H; Yaiche, Hamza H; Ben Jemii, Nadia N; Maaloul, Afifa A; Mezghani, Najla N; Abdelhak, Sonia S; Hamzaoui, Lamine L; Azzouz, Mousaddak M; Boubaker, Samir S
Publication Date: 2019-06-27

Variant appearance in text: MLH1: Arg226X
PubMed Link: 31248416
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutation spectrum of germline cancer susceptibility genes among unselected Chinese colorectal cancer patients.

Cancer Management And Research
Gong, Rui R; He, Yuan Y; Liu, Xiao-Yun XY; Wang, Hai-Yun HY; Sun, Li-Yue LY; Yang, Xin-Hua XH; Li, Bin B; Cao, Xin-Kai XK; Ye, Zu-Lu ZL; Kong, Ling-Heng LH; Zhang, Da-Dong DD; Li, Yu-Hong YH; Xu, Rui-Hua RH; Shao, Jian-Yong JY
Publication Date: 2019

Variant appearance in text: MLH1: 676C>T; R226*
PubMed Link: 31118792
Variant Present in the following documents:
  • Main text
  • cmar-11-3721.pdf
View BVdb publication page



Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J
Publication Date: 2019-09

Variant appearance in text: MLH1: 676C>T; Arg226X
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page



A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.

Human Mutation
Gallon, Richard R; Mühlegger, Barbara B; Wenzel, Sören-Sebastian SS; Sheth, Harsh H; Hayes, Christine C; Aretz, Stefan S; Dahan, Karin K; Foulkes, William W; Kratz, Christian P CP; Ripperger, Tim T; Azizi, Amedeo A AA; Baris Feldman, Hagit H; Chong, Anne-Laure AL; Demirsoy, Ugur U; Florkin, Benoît B; Imschweiler, Thomas T; Januszkiewicz-Lewandowska, Danuta D; Lobitz, Stephan S; Nathrath, Michaela M; Pander, Hans-Jürgen HJ; Perez-Alonso, Vanesa V; Perne, Claudia C; Ragab, Iman I; Rosenbaum, Thorsten T; Rueda, Daniel D; Seidel, Markus G MG; Suerink, Manon M; Taeubner, Julia J; Zimmermann, Stefanie-Yvonne SY; Zschocke, Johannes J; Borthwick, Gillian M GM; Burn, John J; Jackson, Michael S MS; Santibanez-Koref, Mauro M; Wimmer, Katharina K
Publication Date: 2019-05

Variant appearance in text: MLH1: Arg226*
PubMed Link: 30740824
Variant Present in the following documents:
  • HUMU-40-649-s002.xlsx, sheet 1
View BVdb publication page



Implementation of a Systematic Tumor Screening Program for Lynch Syndrome in an Integrated Health Care Setting.

Familial Cancer
Clarke, Elizabeth V EV; Muessig, Kristin R KR; Zepp, Jamilyn J; Hunter, Jessica E JE; Syngal, Sapna S; Acheson, Louise S LS; Wiesner, Georgia L GL; Peterson, Susan K SK; Bergen, Kellene M KM; Shuster, Elizabeth E; Davis, James V JV; Schneider, Jennifer L JL; Kauffman, Tia L TL; Gilmore, Marian J MJ; Reiss, Jacob A JA; Rope, Alan F AF; Cook, Jennifer E JE; Goddard, Katrina A B KAB
Publication Date: 2019-07

Variant appearance in text: MLH1: 676C>T
PubMed Link: 30729418
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome-wide analysis of bi-allelic alterations identifies a Lynch phenotype in The Cancer Genome Atlas.

Genome Medicine
Buckley, Alexandra R AR; Ideker, Trey T; Carter, Hannah H; Harismendy, Olivier O; Schork, Nicholas J NJ
Publication Date: 2018-09-14

Variant appearance in text: MLH1: R226X
PubMed Link: 30217226
Variant Present in the following documents:
  • 13073_2018_579_MOESM1_ESM.pdf
View BVdb publication page



Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics
Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C
Publication Date: 2018-04

Variant appearance in text: MLH1: R226*
PubMed Link: 29684080
Variant Present in the following documents:
  • pgen.1007352.s008.xlsx, sheet 1
View BVdb publication page



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: MLH1: 676C>T; Arg226*
PubMed Link: 28944238
Variant Present in the following documents:
  • MGG3-5-553-s002.xlsx, sheet 1
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: MLH1: 676C>T
PubMed Link: 28874130
Variant Present in the following documents:
  • 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: MLH1: 676C>T; Arg226Ter
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome.

Cancer Genetics
Sunga, Annette Y AY; Ricker, Charité C; Espenschied, Carin R CR; Castillo, Danielle D; Melas, Marilena M; Herzog, Josef J; Bannon, Sarah S; Cruz-Correa, Marcia M; Lynch, Patrick P; Solomon, Ilana I; Gruber, Stephen B SB; Weitzel, Jeffrey N JN
Publication Date: 2017-04

Variant appearance in text: MLH1: 676C>T
PubMed Link: 28449805
Variant Present in the following documents:
  • Main text
View BVdb publication page



A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients.

Oncotarget
Zhang, Junxiao J; Wang, Xiaoyan X; de Voer, Richarda M RM; Hehir-Kwa, Jayne Y JY; Kamping, Eveline J EJ; Weren, Robbert D A RDA; Nelen, Marcel M; Hoischen, Alexander A; Ligtenberg, Marjolijn J L MJL; Hoogerbrugge, Nicoline N; Yang, Xiangling X; Yang, Zihuan Z; Fan, Xinjuan X; Wang, Lei L; Liu, Huanliang H; Wang, Jianping J; Kuiper, Roland P RP; van Kessel, Ad Geurts AG
Publication Date: 2017-04-11

Variant appearance in text: MLH1: 676C>T; Arg226Ter
PubMed Link: 28445943
Variant Present in the following documents:
  • Main text
  • oncotarget-08-24533.pdf
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MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome.

Frontiers In Oncology
Dominguez-Valentin, Mev M; Wernhoff, Patrik P; Cajal, Andrea R AR; Kalfayan, Pablo G PG; Piñero, Tamara A TA; Gonzalez, Maria L ML; Ferro, Alejandra A; Sammartino, Ines I; Causada Calo, Natalia S NS; Vaccaro, Carlos A CA
Publication Date: 2016

Variant appearance in text: MLH1: R226X
PubMed Link: 27606285
Variant Present in the following documents:
  • Main text
  • fonc-06-00189.pdf
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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: MLH1: 676C>T; R226*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
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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: MLH1: R226X
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072-s6.xlsx, sheet 1
View BVdb publication page



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: MLH1: 676C>T; Arg226Ter
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: MLH1: 676C>T; Arg226Ter
PubMed Link: 26681312
Variant Present in the following documents:
View BVdb publication page



Mutation extraction tools can be combined for robust recognition of genetic variants in the literature.

F1000Research
Jimeno Yepes, Antonio A; Verspoor, Karin K
Publication Date: 2014

Variant appearance in text: MLH1: Arg226X
PubMed Link: 25285203
Variant Present in the following documents:
  • Main text
  • f1000research-3-4577.pdf
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Reduced migration of MLH1 deficient colon cancer cells depends on SPTAN1.

Molecular Cancer
Hinrichsen, Inga I; Ernst, Benjamin Philipp BP; Nuber, Franziska F; Passmann, Sandra S; Schäfer, Dieter D; Steinke, Verena V; Friedrichs, Nicolaus N; Plotz, Guido G; Zeuzem, Stefan S; Brieger, Angela A
Publication Date: 2014-01-24

Variant appearance in text: MLH1: 676C>T; Arg226X
PubMed Link: 24456667
Variant Present in the following documents:
  • Main text
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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: MLH1: 676C>T; R226X
PubMed Link: 24344984
Variant Present in the following documents:
  • Main text
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Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.

Plos One
De Lellis, Laura L; Aceto, Gitana Maria GM; Curia, Maria Cristina MC; Catalano, Teresa T; Mammarella, Sandra S; Veschi, Serena S; Fantini, Fabiana F; Battista, Pasquale P; Stigliano, Vittoria V; Messerini, Luca L; Mareni, Cristina C; Sala, Paola P; Bertario, Lucio L; Radice, Paolo P; Cama, Alessandro A
Publication Date: 2013

Variant appearance in text: MLH1: 676C>T; Arg226*
PubMed Link: 24278394
Variant Present in the following documents:
  • Main text
  • pone.0081194.pdf
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Cytosine-based nucleoside analogs are selectively lethal to DNA mismatch repair-deficient tumour cells by enhancing levels of intracellular oxidative stress.

British Journal Of Cancer
Hewish, M M; Martin, S A SA; Elliott, R R; Cunningham, D D; Lord, C J CJ; Ashworth, A A
Publication Date: 2013-03-05

Variant appearance in text: MLH1: R226*
PubMed Link: 23361057
Variant Present in the following documents:
  • bjc20133x3.xls, sheet 2
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Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer.

British Journal Of Cancer
Pal, T T; Akbari, M R MR; Sun, P P; Lee, J-H JH; Fulp, J J; Thompson, Z Z; Coppola, D D; Nicosia, S S; Sellers, T A TA; McLaughlin, J J; Risch, H A HA; Rosen, B B; Shaw, P P; Schildkraut, J J; Narod, S A SA
Publication Date: 2012-11-06

Variant appearance in text: MLH1: Arg226X
PubMed Link: 23047549
Variant Present in the following documents:
  • Main text
  • bjc2012452a.pdf
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Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome.

Bmc Medical Genetics
Castillejo, Adela A; Guarinos, Carla C; Martinez-Canto, Ana A; Barbera, Victor-Manuel VM; Egoavil, Cecilia C; Castillejo, Maria-Isabel MI; Perez-Carbonell, Lucia L; Sanchez-Heras, Ana-Beatriz AB; Segura, Angel A; Ochoa, Enrique E; Lazaro, Rafael R; Ruiz-Ponte, Clara C; Bujanda, Luis L; Andreu, Montserrat M; Castells, Antoni A; Carracedo, Angel A; Llor, Xavier X; Clofent, Juan J; Alenda, Cristina C; Paya, Artemio A; Jover, Rodrigo R; Soto, Jose-Luis JL
Publication Date: 2011-01-19

Variant appearance in text: MLH1: 676C>T; Arg226X
PubMed Link: 21247423
Variant Present in the following documents:
  • Main text
  • 1471-2350-12-12.pdf
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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: MLH1: 676C>T; R226X
PubMed Link: 21056691
Variant Present in the following documents:
  • Main text
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MSH6 and MUTYH deficiency is a frequent event in early-onset colorectal cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Giráldez, María Dolores MD; Balaguer, Francesc F; Bujanda, Luis L; Cuatrecasas, Miriam M; Muñoz, Jenifer J; Alonso-Espinaco, Virginia V; Larzabal, Mikel M; Petit, Anna A; Gonzalo, Victoria V; Ocaña, Teresa T; Moreira, Leticia L; Enríquez-Navascués, José María JM; Boland, C Richard CR; Goel, Ajay A; Castells, Antoni A; Castellví-Bel, Sergi S
Publication Date: 2010-11-15

Variant appearance in text: MLH1: R226X
PubMed Link: 20924129
Variant Present in the following documents:
  • Main text
View BVdb publication page



Microsatellite instability in the peripheral blood leukocytes of HNPCC patients.

Human Mutation
Coolbaugh-Murphy, Mary I MI; Xu, Jing-Ping JP; Ramagli, Louis S LS; Ramagli, Brian C BC; Brown, Barry W BW; Lynch, Patrick M PM; Hamilton, Stanley R SR; Frazier, Marsha L ML; Siciliano, Michael J MJ
Publication Date: 2010-03

Variant appearance in text: MLH1: 676C>T; Arg226*
PubMed Link: 20052760
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: MLH1: 676C>T
PubMed Link: 20007843
Variant Present in the following documents:
  • Main text
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Evaluating Lynch syndrome in very early onset colorectal cancer probands without apparent polyposis.

Familial Cancer
Jasperson, Kory W KW; Vu, Thuy M TM; Schwab, Angela L AL; Neklason, Deborah W DW; Rodriguez-Bigas, Miguel A MA; Burt, Randall W RW; Weitzel, Jeffrey N JN
Publication Date: 2010-06

Variant appearance in text: MLH1: R226X
PubMed Link: 19731080
Variant Present in the following documents:
  • Main text
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Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases.

Cancer Research
Mueller, James J; Gazzoli, Isabella I; Bandipalliam, Prathap P; Garber, Judy E JE; Syngal, Sapna S; Kolodner, Richard D RD
Publication Date: 2009-09-01

Variant appearance in text: MLH1: 676C>T; R226X
PubMed Link: 19690142
Variant Present in the following documents:
  • Main text
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hMSH2 is the most commonly mutated MMR gene in a cohort of Greek HNPCC patients.

British Journal Of Cancer
Apessos, A A; Mihalatos, M M; Danielidis, I I; Kallimanis, G G; Agnantis, N J NJ; Triantafillidis, J K JK; Fountzilas, G G; Kosmidis, P A PA; Razis, E E; Georgoulias, V A VA; Nasioulas, G G
Publication Date: 2005-01-31

Variant appearance in text: MLH1: R226X
PubMed Link: 15655560
Variant Present in the following documents:
  • 92-6602260a.pdf
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