No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study

Autor: Dominguez-Valentin, Mev, Plazzer, John-Paul, Sampson, Julian R., Engel, Christoph, Aretz, Stefan, Jenkins, Mark A., Sunde, Lone, Bernstein, Inge, Capella, Gabriel, Balaguer, Francesc, Macrae, Finlay, Winship, Ingrid M., Thomas, Huw, Evans, Dafydd Gareth, Burn, John, Greenblatt, Marc, de Vos tot Nederveen Cappel, Wouter H., Sijmons, Rolf H., Nielsen, Maartje, Bertario, Lucio, Bonanni, Bernardo, Tibiletti, Maria Grazia, Cavestro, Giulia Martina, Lindblom, Annika, Valle, Adriana Della, Lopez-Kostner, Francisco, Alvarez, Karin, Gluck, Nathan, Katz, Lior, Heinimann, Karl, Vaccaro, Carlos A., Nakken, Sigve, Hovig, Eivind, Green, Kate, Lalloo, Fiona, Hill, James, Vasen, Hans F. A., Perne, Claudia, Büttner, Reinhard, Görgens, Heike, Holinski-Feder, Elke, Morak, Monika, Holzapfel, Stefanie, Hüneburg, Robert, von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Weitz, Jürgen, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Crosbie, Emma J., Pineda, Marta, Navarro, Matilde, Brunet, Joan, Moreira, Leticia, Sánchez, Ariadna, Serra-Burriel, Miquel, Mints, Miriam, Kariv, Revital, Rosner, Guy, Alejandra Piñero, Tamara, Pavicic, Walter Hernán, Kalfayan, Pablo, ten Broeke, Sanne W., Mecklin, Jukka-Pekka, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepistö, Anna, Peltomäki, Päivi, Hopper, John L., Win, Aung Ko, Buchanan, Daniel D., Lindor, Noralane M., Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane C., Thibodeau, Stephen N., Therkildsen, Christina, Hansen, Thomas V. O., Lindberg, Lars, Rødland, Einar Andreas, Neffa, Florencia, Esperon, Patricia, Tjandra, Douglas, Möslein, Gabriela, Seppälä, Toni T., Møller, Pål

Background. Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary tract, pros

Externí odkaz: https://ul.qucosa.de/id/qucosa%3A85197
https://ul.qucosa.de/api/qucosa%3A85197/attachment/ATT-0/

Dermatologic manifestations and diagnostic assessments of the Ehlers-Danlos syndromes: A clinical review

Autor: Doolan, Brent J., Lavallee, Mark, Hausser, Ingrid, Pope, F. Michael, Seneviratne, Suranjith L., Winship, Ingrid M., Burrows, Nigel P.

Publikováno v: In Journal of the American Academy of Dermatology September 2023 89(3):551-559

Evaluating Multiple Next-Generation Sequencing–Derived Tumor Features to Accurately Predict DNA Mismatch Repair Status

Autor: Walker, Romy, Georgeson, Peter, Mahmood, Khalid, Joo, Jihoon E., Makalic, Enes, Clendenning, Mark, Como, Julia, Preston, Susan, Joseland, Sharelle, Pope, Bernard J., Hutchinson, Ryan A., Kasem, Kais, Walsh, Michael D., Macrae, Finlay A., Win, Aung K., Hopper, John L., Mouradov, Dmitri, Gibbs, Peter, Sieber, Oliver M., O'Sullivan, Dylan E., Brenner, Darren R., Gallinger, Steven, Jenkins, Mark A., Rosty, Christophe, Winship, Ingrid M., Buchanan, Daniel D.

Publikováno v: In The Journal of Molecular Diagnostics October 2022

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Identifying primary and secondary MLH1 epimutation carriers displaying low-level constitutional MLH1 methylation using droplet digital PCR and genome-wide DNA methylation profiling of colorectal cancers

Autor: Joo, Jihoon E., Mahmood, Khalid, Walker, Romy, Georgeson, Peter, Candiloro, Ida, Clendenning, Mark, Como, Julia, Joseland, Sharelle, Preston, Susan, Graversen, Lise, Wilding, Mathilda, Field, Michael, Lemon, Michelle, Wakeling, Janette, Marfan, Helen, Susman, Rachel, Isbister, Joanne, Edwards, Emma, Bowman, Michelle, Kirk, Judy, Ip, Emilia, McKay, Lynne, Antill, Yoland, Hopper, John L., Boussioutas, Alex, Macrae, Finlay A., Dobrovic, Alexander, Jenkins, Mark A., Rosty, Christophe, Winship, Ingrid M., Buchanan, Daniel D.

Publikováno v: Joo, J E, Mahmood, K, Walker, R, Georgeson, P, Candiloro, I, Clendenning, M, Como, J, Joseland, S, Preston, S, Graversen, L, Wilding, M, Field, M, Lemon, M, Wakeling, J, Marfan, H, Susman, R, Isbister, J, Edwards, E, Bowman, M, Kirk, J, Ip, E, McKay, L, Antill, Y, Hopper, J L, Boussioutas, A, Macrae, F A, Dobrovic, A, Jenkins, M A, Rosty, C, Winship, I M & Buchanan, D D 2023, ' Identifying primary and secondary MLH1 epimutation carriers displaying low-level constitutional MLH1 methylation using droplet digital PCR and genome-wide DNA methylation profiling of colorectal cancers ', Clinical Epigenetics, vol. 15, no. 1, 95 . https://doi.org/10.1186/s13148-023-01511-y

Background: MLH1 epimutation is characterised by constitutional monoallelic MLH1 promoter hypermethylation, which can cause colorectal cancer (CRC). Tumour molecular profiles of MLH1 epimutation CRCs were used to classify germline MLH1 promoter varia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pure_au_____::c522642348dbb2ed258d29f7f2730302
https://pure.au.dk/portal/da/publications/identifying-primary-and-secondary-mlh1-epimutation-carriers-displaying-lowlevel-constitutional-mlh1-methylation-using-droplet-digital-pcr-and-genomewide-dna-methylation-profiling-of-colorectal-cancers(0e1699e2-1d54-4a81-bdaf-067abd46398b).html