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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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