MLH1 c.1852_1853delinsGC ;(p.K618A)

Variant ID: 3-37089130-AA-GC

NM_000249.3(MLH1):c.1852_1853delinsGC;(p.K618A)

This variant was identified in 52 publications

View GRCh38 version.




Publications:


A living biobank of patient-derived ductal carcinoma in situ mouse-intraductal xenografts identifies risk factors for invasive progression.

Cancer Cell
Hutten, Stefan J SJ; de Bruijn, Roebi R; Lutz, Catrin C; Badoux, Madelon M; Eijkman, Timo T; Chao, Xue X; Ciwinska, Marta M; Sheinman, Michael M; Messal, Hendrik H; Herencia-Ropero, Andrea A; Kristel, Petra P; Mulder, Lennart L; van der Waal, Rens R; Sanders, Joyce J; Almekinders, Mathilde M MM; Llop-Guevara, Alba A; Davies, Helen R HR; van Haren, Matthijs J MJ; Martin, Nathaniel I NI; Behbod, Fariba F; Nik-Zainal, Serena S; Serra, Violeta V; van Rheenen, Jacco J; Lips, Esther H EH; Wessels, Lodewyk F A LFA; , ; Wesseling, Jelle J; Scheele, Colinda L G J CLGJ; Jonkers, Jos J
Publication Date: 2023-04-24

Variant appearance in text: MLH1: 1852_1853delinsGC; K618A; rs35502531
PubMed Link: 37116492
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Targeting CLDN6 in germ cell tumors by an antibody-drug-conjugate and studying therapy resistance of yolk-sac tumors to identify and screen specific therapeutic options.

Molecular Medicine (Cambridge, Mass.)
Skowron, Margaretha A MA; Kotthoff, Mara M; Bremmer, Felix F; Ruhnke, Katja K; Parmaksiz, Fatma F; Richter, Annika A; Küffer, Stefan S; Reuter-Jessen, Kirsten K; Pauls, Stella S; Stefanski, Anja A; Ströbel, Philipp P; Stühler, Kai K; Nettersheim, Daniel D
Publication Date: 2023-03-29

Variant appearance in text: MLH1: 1852_1853delinsGC; Lys618Ala
PubMed Link: 36991316
Variant Present in the following documents:
  • 10020_2023_636_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



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: MLH1: K618A
PubMed Link: 36896237
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
View BVdb publication page



Functional characterization of MLH1 missense variants unveils mechanisms of pathogenicity and clarifies role in cancer.

Plos One
Mahdouani, Marwa M; Ben Ahmed, Slim S; Hmila, Fahmi F; Rais, Henda H; Ben Sghaier, Rihab R; Saad, Hanene H; Ben Said, Mariem M; Masmoudi, Saber S; Hmida, Dorra D; Brieger, Angela A; Zeuzem, Stefan S; Saad, Ali A; Gribaa, Moez M; Plotz, Guido G
Publication Date: 2022

Variant appearance in text: MLH1: Lys618Ala
PubMed Link: 36454741
Variant Present in the following documents:
  • pone.0278283.pdf
View BVdb publication page



PMS2 variant results in loss of ATPase activity without compromising mismatch repair.

Molecular Genetics & Genomic Medicine
D'Arcy, Brandon M BM; Arrington, Jennifer J; Weisman, Justin J; McClellan, Steven B SB; Vandana, ; Yang, Zhengrong Z; Deivanayagam, Champion C; Blount, Jessa J; Prakash, Aishwarya A
Publication Date: 2022-02-21

Variant appearance in text: MLH1: Lys618Ala
PubMed Link: 35189042
Variant Present in the following documents:
  • MGG3-10-e1908.pdf
View BVdb publication page



Identification of Genetic Risk Factors for Familial Urinary Bladder Cancer: An Exome Sequencing Study.

Jco Precision Oncology
Pemov, Alexander A; Wegman-Ostrosky, Talia T; Kim, Jung J; Koutros, Stella S; Douthitt, Brenna B; Jones, Kristine K; Zhu, Bin B; Baris, Dalsu D; Schwenn, Molly M; Johnson, Alison A; Karagas, Margaret R MR; Carter, Brian D BD; McCullough, Marjorie L ML; Landi, Maria Teresa MT; Freedman, Neal D ND; Albanes, Demetrius D; Silverman, Debra T DT; Rothman, Nathaniel N; Caporaso, Neil E NE; Greene, Mark H MH; Fraumeni, Joseph F JF; Stewart, Douglas R DR
Publication Date: 2021

Variant appearance in text: MLH1: 1852_1853delinsGC; K618A; rs35502531
PubMed Link: 34964002
Variant Present in the following documents:
  • Main text
  • po-5-po.21.00115.pdf
View BVdb publication page



Molecular and functional profiling identifies therapeutically targetable vulnerabilities in plasmablastic lymphoma.

Nature Communications
Frontzek, Fabian F; Staiger, Annette M AM; Zapukhlyak, Myroslav M; Xu, Wendan W; Bonzheim, Irina I; Borgmann, Vanessa V; Sander, Philip P; Baptista, Maria Joao MJ; Heming, Jan-Niklas JN; Berning, Philipp P; Wullenkord, Ramona R; Erdmann, Tabea T; Lutz, Mathias M; Veratti, Pia P; Ehrenfeld, Sophia S; Wienand, Kirsty K; Horn, Heike H; Goodlad, John R JR; Wilson, Matthew R MR; Anagnostopoulos, Ioannis I; Lamping, Mario M; Gonzalez-Barca, Eva E; Climent, Fina F; Salar, Antonio A; Castellvi, Josep J; Abrisqueta, Pau P; Menarguez, Javier J; Aldamiz, Teresa T; Richter, Julia J; Klapper, Wolfram W; Tzankov, Alexandar A; Dirnhofer, Stefan S; Rosenwald, Andreas A; Mate, José Luis JL; Tapia, Gustavo G; Lenz, Peter P; Miething, Cornelius C; Hartmann, Wolfgang W; Chapuy, Björn B; Fend, Falko F; Ott, German G; Navarro, José-Tomas JT; Grau, Michael M; Lenz, Georg G
Publication Date: 2021-08-31

Variant appearance in text: MLH1: 1852_1853delinsGC; K618A
PubMed Link: 34465776
Variant Present in the following documents:
  • 41467_2021_25405_MOESM7_ESM.xlsx, sheet 2
View BVdb publication page



Human MLH1/3 variants causing aneuploidy, pregnancy loss, and premature reproductive aging.

Nature Communications
Singh, Priti P; Fragoza, Robert R; Blengini, Cecilia S CS; Tran, Tina N TN; Pannafino, Gianno G; Al-Sweel, Najla N; Schimenti, Kerry J KJ; Schindler, Karen K; Alani, Eric A EA; Yu, Haiyuan H; Schimenti, John C JC
Publication Date: 2021-08-18

Variant appearance in text: MLH1: K618A
PubMed Link: 34408140
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_25028.pdf
  • 41467_2021_25028_MOESM2_ESM.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: MLH1: 1852_1853delAAinsGC; Lys618Ala; rs35502531
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 6
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
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: MLH1: 1852_1853delinsGC; Lys618Ala
PubMed Link: 32849802
Variant Present in the following documents:
  • Data_Sheet_1.xlsx, sheet 3
View BVdb publication page



A comprehensive custom panel evaluation for routine hereditary cancer testing: improving the yield of germline mutation detection.

Journal Of Translational Medicine
Velázquez, Carolina C; Lastra, Enrique E; Avila Cobos, Francisco F; Abella, Luis L; de la Cruz, Virginia V; Hernando, Blanca Ascensión BA; Hernández, Lara L; Martínez, Noemí N; Infante, Mar M; Durán, Mercedes M
Publication Date: 2020-06-10

Variant appearance in text: MLH1: 1852_1853delAAinsGC; Lys618Ala
PubMed Link: 32522261
Variant Present in the following documents:
  • 12967_2020_2391_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01

Variant appearance in text: MLH1: K618A
PubMed Link: 31874108
Variant Present in the following documents:
  • jci-130-132031-s100.xlsx, sheet 1
  • jci-130-132031-s102.xlsx, sheet 3
View BVdb publication page



DaT Scan "Abnormality" in Hyperglycemic-Hemichorea.

Tremor And Other Hyperkinetic Movements (New York, N.Y.)
Doher, Nicholas N; Gupta, Harsh V HV
Publication Date: 2019

Variant appearance in text: rs35502531
PubMed Link: 31824748
Variant Present in the following documents:
  • tre-09-739-s003.xlsx, sheet 3
View BVdb publication page



Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome.

Elife
Abildgaard, Amanda B AB; Stein, Amelie A; Nielsen, Sofie V SV; Schultz-Knudsen, Katrine K; Papaleo, Elena E; Shrikhande, Amruta A; Hoffmann, Eva R ER; Bernstein, Inge I; Gerdes, Anne-Marie AM; Takahashi, Masanobu M; Ishioka, Chikashi C; Lindorff-Larsen, Kresten K; Hartmann-Petersen, Rasmus R
Publication Date: 2019-11-07

Variant appearance in text: MLH1: K618A
PubMed Link: 31697235
Variant Present in the following documents:
  • Main text
  • elife-49138.pdf
View BVdb publication page



Protein stability of p53 targets determines their temporal expression dynamics in response to p53 pulsing.

The Journal Of Cell Biology
Hanson, Ryan L RL; Porter, Joshua R JR; Batchelor, Eric E
Publication Date: 2019-04-01

Variant appearance in text: MLH1: Lys618Ala
PubMed Link: 30745421
Variant Present in the following documents:
  • JCB_201803063.pdf
View BVdb publication page



A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Drost, Mark M; Tiersma, Yvonne Y; Thompson, Bryony A BA; Frederiksen, Jane H JH; Keijzers, Guido G; Glubb, Dylan D; Kathe, Scott S; Osinga, Jan J; Westers, Helga H; Pappas, Lisa L; Boucher, Kenneth M KM; Molenkamp, Siska S; Zonneveld, José B JB; van Asperen, Christi J CJ; Goldgar, David E DE; Wallace, Susan S SS; Sijmons, Rolf H RH; Spurdle, Amanda B AB; Rasmussen, Lene J LJ; Greenblatt, Marc S MS; de Wind, Niels N; Tavtigian, Sean V SV
Publication Date: 2019-07

Variant appearance in text: MLH1: K618A
PubMed Link: 30504929
Variant Present in the following documents:
  • Main text
View BVdb publication page



Impacts of incorporating personal genome sequencing into graduate genomics education: a longitudinal study over three course years.

Bmc Medical Genomics
Linderman, Michael D MD; Sanderson, Saskia C SC; Bashir, Ali A; Diaz, George A GA; Kasarskis, Andrew A; Zinberg, Randi R; Mahajan, Milind M; Suckiel, Sabrina A SA; Zweig, Micol M; Schadt, Eric E EE
Publication Date: 2018-01-30

Variant appearance in text: MLH1: 1852_1853delinsGC; Lys618Ala
PubMed Link: 29382336
Variant Present in the following documents:
  • 12920_2018_319_MOESM2_ESM.pdf
  • 12920_2018_319_MOESM4_ESM.pdf
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: 1852_1853delinsGC; Lys618Ala
PubMed Link: 28944238
Variant Present in the following documents:
  • Main text
  • MGG3-5-553.pdf
  • MGG3-5-553-s002.xlsx, sheet 3
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: 1852_1853delAAinsGC; Lys618Ala
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Development and validation of a 36-gene sequencing assay for hereditary cancer risk assessment.

Peerj
Vysotskaia, Valentina S VS; Hogan, Gregory J GJ; Gould, Genevieve M GM; Wang, Xin X; Robertson, Alex D AD; Haas, Kevin R KR; Theilmann, Mark R MR; Spurka, Lindsay L; Grauman, Peter V PV; Lai, Henry H HH; Jeon, Diana D; Haliburton, Genevieve G; Leggett, Matt M; Chu, Clement S CS; Iori, Kevin K; Maguire, Jared R JR; Ready, Kaylene K; Evans, Eric A EA; Kang, Hyunseok P HP; Haque, Imran S IS
Publication Date: 2017

Variant appearance in text: MLH1: Lys618Ala
PubMed Link: 28243543
Variant Present in the following documents:
  • peerj-05-3046-s004.xlsx, sheet 1
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: rs35502531
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Novel Mutations in MLH1 and MSH2 Genes in Mexican Patients with Lynch Syndrome.

Gastroenterology Research And Practice
Moreno-Ortiz, Jose Miguel JM; Ayala-Madrigal, María de la Luz Mde L; Corona-Rivera, Jorge Román JR; Centeno-Flores, Manuel M; Maciel-Gutiérrez, Víctor V; Franco-Topete, Ramón Antonio RA; Armendáriz-Borunda, Juan J; Hotchkiss, Erin E; Pérez-Carbonell, Lucia L; Rhees, Jennifer J; Boland, Clement Richard CR; Gutiérrez-Angulo, Melva M
Publication Date: 2016

Variant appearance in text: MLH1: 1852_1853delinsGC; K618A; rs35502531
PubMed Link: 27247567
Variant Present in the following documents:
  • Main text
  • GRP2016-5278024.pdf
View BVdb publication page



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: HNPCC2: K618A; rs35502531
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



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: MLH1: K618A
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
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: Lys618Ala
PubMed Link: 25285203
Variant Present in the following documents:
  • Main text
  • f1000research-3-4577.pdf
View BVdb publication page



The mutational spectrum of Lynch syndrome in cyprus.

Plos One
Loizidou, Maria A MA; Neophytou, Ioanna I; Papamichael, Demetris D; Kountourakis, Panteleimon P; Vassiliou, Vassilios V; Marcou, Yiola Y; Kakouri, Eleni E; Ioannidis, Georgios G; Philippou, Chrystalla C; Spanou, Elena E; Tanteles, George A GA; Anastasiadou, Violetta V; Hadjisavvas, Andreas A; Kyriacou, Kyriacos K
Publication Date: 2014

Variant appearance in text: MLH1: 1852_1853delinsGC; Lys618Ala
PubMed Link: 25133505
Variant Present in the following documents:
  • Main text
View BVdb publication page



The MLH1 c.1852_1853delinsGC (p.K618A) variant in colorectal cancer: genetic association study in 18,723 individuals.

Plos One
Abulí, Anna A; Bujanda, Luis L; Muñoz, Jenifer J; Buch, Stephan S; Schafmayer, Clemens C; Valeria Maiorana, Maria M; Veneroni, Silvia S; van Wezel, Tom T; Liu, Tao T; Westers, Helga H; Esteban-Jurado, Clara C; Ocaña, Teresa T; Piqué, Josep M JM; Andreu, Montserrat M; Jover, Rodrigo R; Carracedo, Angel A; Xicola, Rosa M RM; Llor, Xavier X; Castells, Antoni A; , ; Dunlop, Malcolm M; Hofstra, Robert R; Lindblom, Annika A; Wijnen, Juul J; Peterlongo, Paolo P; Hampe, Jochen J; Ruiz-Ponte, Clara C; Castellví-Bel, Sergi S
Publication Date: 2014

Variant appearance in text: MLH1: 1852_1853delinsGC; K618A
PubMed Link: 24743384
Variant Present in the following documents:
  • Main text
  • pone.0095022.pdf
View BVdb publication page



A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes.

Molecular Genetics & Genomic Medicine
Hansen, Maren F MF; Neckmann, Ulrike U; Lavik, Liss A S LA; Vold, Trine T; Gilde, Bodil B; Toft, Ragnhild K RK; Sjursen, Wenche W
Publication Date: 2014-03

Variant appearance in text: MLH1: 1852_1853delinsGC; Lys618Ala; rs35502531
PubMed Link: 24689082
Variant Present in the following documents:
  • Main text
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: MLH1: 1852_1853delinsGC; K618A
PubMed Link: 24344984
Variant Present in the following documents:
  • Main text
  • 1897-4287-11-18.pdf
View BVdb publication page



Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Human Genetics
Cooper, David N DN; Krawczak, Michael M; Polychronakos, Constantin C; Tyler-Smith, Chris C; Kehrer-Sawatzki, Hildegard H
Publication Date: 2013-10

Variant appearance in text: MLH1: 1852_1853delAAinsGC; Lys618Ala; rs35502531
PubMed Link: 23820649
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inherited pancreatic cancer syndromes.

Cancer Journal (Sudbury, Mass.)
Solomon, Sheila S; Das, Siddhartha S; Brand, Randall R; Whitcomb, David C DC
Publication Date: 2012

Variant appearance in text: MLH1: K618A
PubMed Link: 23187834
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 1852_1853delAAinsGC; Lys618Ala
PubMed Link: 23047549
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: MLH1: Lys618Ala
PubMed Link: 22949387
Variant Present in the following documents:
  • Main text
View BVdb publication page



A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.

Human Mutation
Thompson, Bryony A BA; Goldgar, David E DE; Paterson, Carol C; Clendenning, Mark M; Walters, Rhiannon R; Arnold, Sven S; Parsons, Michael T MT; Michael D, Walsh W; Gallinger, Steven S; Haile, Robert W RW; Hopper, John L JL; Jenkins, Mark A MA; Lemarchand, Loic L; Lindor, Noralane M NM; Newcomb, Polly A PA; Thibodeau, Stephen N SN; , ; Young, Joanne P JP; Buchanan, Daniel D DD; Tavtigian, Sean V SV; Spurdle, Amanda B AB
Publication Date: 2013-01

Variant appearance in text: MLH1: 1852_1853delAAinsGC; Lys618Ala
PubMed Link: 22949379
Variant Present in the following documents:
  • Main text
View BVdb publication page



Determining the functional significance of mismatch repair gene missense variants using biochemical and cellular assays.

Hereditary Cancer In Clinical Practice
Heinen, Christopher D CD; Juel Rasmussen, Lene L
Publication Date: 2012-07-23

Variant appearance in text: MLH1: Lys618Ala
PubMed Link: 22824075
Variant Present in the following documents:
  • 1897-4287-10-9.pdf
View BVdb publication page



The germline MLH1 K618A variant and susceptibility to Lynch syndrome-associated tumors.

The Journal Of Molecular Diagnostics : Jmd
Medeiros, Fabiola F; Lindor, Noralane M NM; Couch, Fergus J FJ; Highsmith, W Edward WE
Publication Date: 2012

Variant appearance in text: MLH1: K618A
PubMed Link: 22426235
Variant Present in the following documents:
  • Main text
View BVdb publication page



Difficulties in finding DNA mutations and associated phenotypic data in web resources using simple, uncomplicated search terms, and a suggested solution.

Human Genomics
Webb, Elizabeth A EA; Smith, Timothy D TD; Cotton, Richard G H RG
Publication Date: 2011-03

Variant appearance in text: MLH1: Lys618Ala
PubMed Link: 21504866
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: Lys618Ala
PubMed Link: 21247423
Variant Present in the following documents:
  • Main text
View BVdb publication page



Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.

Human Mutation
Kansikas, Minttu M; Kariola, Reetta R; Nyström, Minna M
Publication Date: 2011-01

Variant appearance in text: MLH1: K618A
PubMed Link: 21120944
Variant Present in the following documents:
  • Main text
View BVdb publication page



A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression.

The Journal Of Molecular Diagnostics : Jmd
Perera, Sheron S; Li, Brian B; Tsitsikotas, Soultana S; Ramyar, Lily L; Pollett, Aaron A; Semotiuk, Kara K; Bapat, Bharati B
Publication Date: 2010-11

Variant appearance in text: MLH1: Lys618Ala
PubMed Link: 20864636
Variant Present in the following documents:
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Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID.

Plos One
Offer, Steven M SM; Pan-Hammarström, Qiang Q; Hammarström, Lennart L; Harris, Reuben S RS
Publication Date: 2010-08-18

Variant appearance in text: MLH1: K618A
PubMed Link: 20805886
Variant Present in the following documents:
  • Main text
  • pone.0012260.pdf
  • pone.0012260.s004.pdf
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Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair.

Human Mutation
Kosinski, Jan J; Hinrichsen, Inga I; Bujnicki, Janusz M JM; Friedhoff, Peter P; Plotz, Guido G
Publication Date: 2010-08

Variant appearance in text: MLH1: Lys618Ala
PubMed Link: 20533529
Variant Present in the following documents:
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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: MLH1: Lys618Ala
PubMed Link: 19698169
Variant Present in the following documents:
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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: K618A
PubMed Link: 19690142
Variant Present in the following documents:
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In silico analysis of missense substitutions using sequence-alignment based methods.

Human Mutation
Tavtigian, Sean V SV; Greenblatt, Marc S MS; Lesueur, Fabienne F; Byrnes, Graham B GB; ,
Publication Date: 2008-11

Variant appearance in text: MLH1: K618A
PubMed Link: 18951440
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Feasibility of screening for Lynch syndrome among patients with colorectal cancer.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Hampel, Heather H; Frankel, Wendy L WL; Martin, Edward E; Arnold, Mark M; Khanduja, Karamjit K; Kuebler, Philip P; Clendenning, Mark M; Sotamaa, Kaisa K; Prior, Thomas T; Westman, Judith A JA; Panescu, Jenny J; Fix, Dan D; Lockman, Janet J; LaJeunesse, Jennifer J; Comeras, Ilene I; de la Chapelle, Albert A
Publication Date: 2008-12-10

Variant appearance in text: MLH1: 1852_1853delAAinsGC; Lys618Ala
PubMed Link: 18809606
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The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population.

Bmc Medical Genetics
Christensen, Lise Lotte LL; Madsen, Bo E BE; Wikman, Friedrik P FP; Wiuf, Carsten C; Koed, Karen K; Tjønneland, Anne A; Olsen, Anja A; Syvänen, Ann-Christine AC; Andersen, Claus L CL; Orntoft, Torben F TF
Publication Date: 2008-06-11

Variant appearance in text: MLH1: Lys618Ala
PubMed Link: 18547406
Variant Present in the following documents:
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Germline MLH1 and MSH2 mutational spectrum including frequent large genomic aberrations in Hungarian hereditary non-polyposis colorectal cancer families: implications for genetic testing.

World Journal Of Gastroenterology
Papp, Janos J; Kovacs, Marietta E ME; Olah, Edith E
Publication Date: 2007-05-21

Variant appearance in text: MLH1: 1852_1853delinsGC; K618A
PubMed Link: 17569143
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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: MLH1: Lys618Ala
PubMed Link: 17453009
Variant Present in the following documents:
  • Main text
  • 6603754a.pdf
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Low prevalence of germline hMSH6 mutations in colorectal cancer families from Spain.

World Journal Of Gastroenterology
Sánchez de Abajo, Ana A; de la Hoya, Miguel M; Tosar, Alicia A; Godino, Javier J; Fernández, Juan-Manuel JM; Asenjo, Jose-Lopez JL; Villamil, Beatriz-Perez BP; Segura, Pedro-Perez PP; Diaz-Rubio, Eduardo E; Caldes, Trinidad T
Publication Date: 2005-10-07

Variant appearance in text: MLH1: K618A
PubMed Link: 16270383
Variant Present in the following documents:
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Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6.

The Journal Of Molecular Diagnostics : Jmd
Hegde, Madhuri M; Blazo, Maria M; Chong, Belinda B; Prior, Tom T; Richards, Carolyn C
Publication Date: 2005-10

Variant appearance in text: MLH1: K618A
PubMed Link: 16237223
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Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach.

British Journal Of Cancer
Gille, J J P JJ; Hogervorst, F B L FB; Pals, G G; Wijnen, J Th JT; van Schooten, R J RJ; Dommering, C J CJ; Meijer, G A GA; Craanen, M E ME; Nederlof, P M PM; de Jong, D D; McElgunn, C J CJ; Schouten, J P JP; Menko, F H FH
Publication Date: 2002-10-07

Variant appearance in text: MLH1: Lys618Ala
PubMed Link: 12373605
Variant Present in the following documents:
  • 87-6600565a.pdf
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