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
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: 1853A>C; Lys618Thr; rs63750449
Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants.
Genome Medicine
Stoltze, Ulrik Kristoffer UK; Hagen, Christian Munch CM; van Overeem Hansen, Thomas T; Byrjalsen, Anna A; Gerdes, Anne-Marie AM; Yakimov, Victor V; Rasmussen, Simon S; Bækvad-Hansen, Marie M; Hougaard, David Michael DM; Schmiegelow, Kjeld K; Hjalgrim, Henrik H; Wadt, Karin K; Bybjerg-Grauholm, Jonas J
Publication Date: 2023-03-14
Variant appearance in text: MLH1: 1853A>C; Lys618Thr
RosettaDDGPrediction for high-throughput mutational scans: from stability to binding.
Protein Science : A Publication Of The Protein Society
Sora, Valentina V; Otamendi Laspiur, Adrian A; Degn, Kristine K; Arnaudi, Matteo M; Utichi, Mattia M; Beltrame, Ludovica L; De Menezes, Dayana D; Orlandi, Matteo M; Stoltze, Ulrik Kristoffer UK; Rigina, Olga O; Sackett, Peter Wad PW; Wadt, Karin K; Schmiegelow, Kjeld K; Tiberti, Matteo M; Papaleo, Elena E
High p16 expression and heterozygous RB1 loss are biomarkers for CDK4/6 inhibitor resistance in ER+ breast cancer.
Nature Communications
Palafox, Marta M; Monserrat, Laia L; Bellet, Meritxell M; Villacampa, Guillermo G; Gonzalez-Perez, Abel A; Oliveira, Mafalda M; Brasó-Maristany, Fara F; Ibrahimi, Nusaibah N; Kannan, Srinivasaraghavan S; Mina, Leonardo L; Herrera-Abreu, Maria Teresa MT; Òdena, Andreu A; Sánchez-Guixé, Mònica M; Capelán, Marta M; Azaro, Analía A; Bruna, Alejandra A; Rodríguez, Olga O; Guzmán, Marta M; Grueso, Judit J; Viaplana, Cristina C; Hernández, Javier J; Su, Faye F; Lin, Kui K; Clarke, Robert B RB; Caldas, Carlos C; Arribas, Joaquín J; Michiels, Stefan S; García-Sanz, Alicia A; Turner, Nicholas C NC; Prat, Aleix A; Nuciforo, Paolo P; Dienstmann, Rodrigo R; Verma, Chandra S CS; Lopez-Bigas, Nuria N; Scaltriti, Maurizio M; Arnedos, Monica M; Saura, Cristina C; Serra, Violeta V
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: K618T; rs63750449
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study.
Journal Of Clinical Medicine
Dominguez-Valentin, Mev M; Plazzer, John-Paul JP; Sampson, Julian R JR; Engel, Christoph C; Aretz, Stefan S; Jenkins, Mark A MA; Sunde, Lone L; Bernstein, Inge I; Capella, Gabriel G; Balaguer, Francesc F; Macrae, Finlay F; Winship, Ingrid M IM; Thomas, Huw H; Evans, Dafydd Gareth DG; Burn, John J; Greenblatt, Marc M; de Vos Tot Nederveen Cappel, Wouter H WH; Sijmons, Rolf H RH; Nielsen, Maartje M; Bertario, Lucio L; Bonanni, Bernardo B; Tibiletti, Maria Grazia MG; Cavestro, Giulia Martina GM; Lindblom, Annika A; Valle, Adriana Della AD; Lopez-Kostner, Francisco F; Alvarez, Karin K; Gluck, Nathan N; Katz, Lior L; Heinimann, Karl K; Vaccaro, Carlos A CA; Nakken, Sigve S; Hovig, Eivind E; Green, Kate K; Lalloo, Fiona F; Hill, James J; Vasen, Hans F A HFA; Perne, Claudia C; Büttner, Reinhard R; Görgens, Heike H; Holinski-Feder, Elke E; Morak, Monika M; Holzapfel, Stefanie S; Hüneburg, Robert R; von Knebel Doeberitz, Magnus M; Loeffler, Markus M; Rahner, Nils N; Weitz, Jürgen J; Steinke-Lange, Verena V; Schmiegel, Wolff W; Vangala, Deepak D; Crosbie, Emma J EJ; Pineda, Marta M; Navarro, Matilde M; Brunet, Joan J; Moreira, Leticia L; Sánchez, Ariadna A; Serra-Burriel, Miquel M; Mints, Miriam M; Kariv, Revital R; Rosner, Guy G; Piñero, Tamara Alejandra TA; Pavicic, Walter Hernán WH; Kalfayan, Pablo P; Broeke, Sanne W Ten SWT; Mecklin, Jukka-Pekka JP; Pylvänäinen, Kirsi K; Renkonen-Sinisalo, Laura L; Lepistö, Anna A; Peltomäki, Päivi P; Hopper, John L JL; Win, Aung Ko AK; Buchanan, Daniel D DD; Lindor, Noralane M NM; Gallinger, Steven S; Marchand, Loïc Le LL; Newcomb, Polly A PA; Figueiredo, Jane C JC; Thibodeau, Stephen N SN; Therkildsen, Christina C; Hansen, Thomas V O TVO; Lindberg, Lars L; Rødland, Einar Andreas EA; Neffa, Florencia F; Esperon, Patricia P; Tjandra, Douglas D; Möslein, Gabriela G; Seppälä, Toni T TT; Møller, Pål P
Kinome capture sequencing of high-grade serous ovarian carcinoma reveals novel mutations in the JAK3 gene.
Plos One
Mittempergher, Lorenza L; Piskorz, Anna M AM; Bosma, Astrid J AJ; Michaut, Magali M; Wisman, G Bea A GBA; Kluin, Roelof J C RJC; Nieuwland, Marja M; Brugman, Wim W; van der Ven, Kevin J W KJW; Marass, Francesco F; Morris, James J; Rosenfeld, Nitzan N; Jimenez-Linan, Mercedes M; de Jong, Steven S; van der Zee, Ate G J AGJ; Brenton, James D JD; Bernards, René R
Publication Date: 2020
Variant appearance in text: MLH1: 1853A>C; rs63750449
A comprehensive analysis of candidate genes in familial pancreatic cancer families reveals a high frequency of potentially pathogenic germline variants.
Ebiomedicine
Earl, Julie J; Galindo-Pumariño, Cristina C; Encinas, Jessica J; Barreto, Emma E; Castillo, Maria E ME; Pachón, Vanessa V; Ferreiro, Reyes R; Rodríguez-Garrote, Mercedes M; González-Martínez, Silvia S; Ramon Y Cajal, Teresa T; Diaz, Luis Robles LR; Chirivella-Gonzalez, Isabel I; Rodriguez, Montse M; de Castro, Eva Martínez EM; García-Seisdedos, David D; Muñoz, Gloria G; Rosa, Juan Manuel Rosa JMR; Marquez, Mirari M; Malats, Nuría N; Carrato, Alfredo A
Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
Genome Medicine
Salfati, Elias L EL; Spencer, Emily G EG; Topol, Sarah E SE; Muse, Evan D ED; Rueda, Manuel M; Lucas, Jonathan R JR; Wagner, Glenn N GN; Campman, Steven S; Topol, Eric J EJ; Torkamani, Ali A
Publication Date: 2019-12-17
Variant appearance in text: MLH1: 1853A>C; Lys618Thr; rs63750449
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Publication Date: 2019-09-12
Variant appearance in text: MLH1: 1853A>C; K618T; rs63750449
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls.
Genome Medicine
Kim, Jung J; Luo, Wen W; Wang, Mingyi M; Wegman-Ostrosky, Talia T; Frone, Megan N MN; Johnston, Jennifer J JJ; Nickerson, Michael L ML; Rotunno, Melissa M; Li, Shengchao A SA; Achatz, Maria I MI; Brodie, Seth A SA; Dean, Michael M; de Andrade, Kelvin C KC; Fortes, Fernanda P FP; Gianferante, Matthew M; Khincha, Payal P; McMaster, Mary L ML; McReynolds, Lisa J LJ; Pemov, Alexander A; Pinheiro, Maisa M; Santiago, Karina M KM; Alter, Blanche P BP; Caporaso, Neil E NE; Gadalla, Shahinaz M SM; Goldin, Lynn R LR; Greene, Mark H MH; Loud, Jennifer J; Yang, Xiaohong R XR; Freedman, Neal D ND; Gapstur, Susan M SM; Gaudet, Mia M MM; Calista, Donato D; Ghiorzo, Paola P; Fargnoli, Maria Concetta MC; Nagore, Eduardo E; Peris, Ketty K; Puig, Susana S; Landi, Maria Teresa MT; Hicks, Belynda B; Zhu, Bin B; Liu, Jia J; Sampson, Joshua N JN; Chanock, Stephen J SJ; Mirabello, Lisa J LJ; Morton, Lindsay M LM; Biesecker, Leslie G LG; Tucker, Margaret A MA; Savage, Sharon A SA; Goldstein, Alisa M AM; Stewart, Douglas R DR
Publication Date: 2018-12-24
Variant appearance in text: MLH1: 1853A>C; Lys618Thr; rs63750449
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
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01
Variant appearance in text: MLH1: K618T; rs63750449
Derivation of Breast Cancer Cell Lines Under Physiological (5%) Oxygen Concentrations.
Frontiers In Oncology
Leung, Euphemia Y EY; Askarian-Amiri, Marjan E ME; Singleton, Dean C DC; Ferraro-Peyret, Carole C; Joseph, Wayne R WR; Finlay, Graeme J GJ; Broom, Reuben J RJ; Kakadia, Purvi M PM; Bohlander, Stefan K SK; Marshall, Elaine E; Baguley, Bruce C BC
A Bayesian framework for efficient and accurate variant prediction.
Plos One
Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15
Variant appearance in text: MLH1: K618T; rs63750449
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: 1853A>C; Lys618Thr
Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.
Nature Medicine
Broutier, Laura L; Mastrogiovanni, Gianmarco G; Verstegen, Monique Ma MM; Francies, Hayley E HE; Gavarró, Lena Morrill LM; Bradshaw, Charles R CR; Allen, George E GE; Arnes-Benito, Robert R; Sidorova, Olga O; Gaspersz, Marcia P MP; Georgakopoulos, Nikitas N; Koo, Bon-Kyoung BK; Dietmann, Sabine S; Davies, Susan E SE; Praseedom, Raaj K RK; Lieshout, Ruby R; IJzermans, Jan N M JNM; Wigmore, Stephen J SJ; Saeb-Parsy, Kourosh K; Garnett, Mathew J MJ; van der Laan, Luc Jw LJ; Huch, Meritxell M
Publication Date: 2017-12
Variant appearance in text: MLH1: 1853A>C; Lys618Thr
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
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
Publication Date: 2016-07-26
Variant appearance in text: MLH1: 1853A>C; K618T; rs63750449
Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.
Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Plos One
Olfson, Emily E; Cottrell, Catherine E CE; Davidson, Nicholas O NO; Gurnett, Christina A CA; Heusel, Jonathan W JW; Stitziel, Nathan O NO; Chen, Li-Shiun LS; Hartz, Sarah S; Nagarajan, Rakesh R; Saccone, Nancy L NL; Bierut, Laura J LJ
Publication Date: 2015
Variant appearance in text: MLH1: 1853A>C; Lys618Thr; rs63750449
Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization.
Human Mutation
van der Velde, K Joeri KJ; Kuiper, Joël J; Thompson, Bryony A BA; Plazzer, John-Paul JP; van Valkenhoef, Gert G; de Haan, Mark M; Jongbloed, Jan D H JD; Wijmenga, Cisca C; de Koning, Tom J TJ; Abbott, Kristin M KM; Sinke, Richard R; Spurdle, Amanda B AB; Macrae, Finlay F; Genuardi, Maurizio M; Sijmons, Rolf H RH; Swertz, Morris A MA; ,
Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.
Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E
Mutational landscape of candidate genes in familial prostate cancer.
The Prostate
Johnson, Anna M AM; Zuhlke, Kimberly A KA; Plotts, Chris C; McDonnell, Shannon K SK; Middha, Sumit S; Riska, Shaun M SM; Schaid, Daniel J DJ; Thibodeau, Stephen N SN; Douglas, Julie A JA; Cooney, Kathleen A KA
Publication Date: 2014-10
Variant appearance in text: MLH1: Lys618Thr; rs63750449
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
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