Search Results - "Wadt, Karin A.W."

Genetic testing for childhood cancer predisposition syndromes: Controversies and recommendations from the SIOPE Host Genome Working Group meeting 2022 by Bakhuizen, Jette J., Bourdeaut, Franck, Wadt, Karin A.W., Kratz, Christian P., Jongmans, Marjolijn C.J., Waespe, Nicolas

“…Cancer Predisposition Syndromes (CPSs) have been identified in 7–15 % of children with cancer. The possibilities for germline genetic testing have increased in…”
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TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma by Jensen, Marlene Richter, Jelsig, Anne Marie, Gerdes, Anne-Marie, Hölmich, Lisbet Rosenkrantz, Kainu, Kati Hannele, Lorentzen, Henrik Frank, Hansen, Mary Højgaard, Bak, Mads, Johansson, Peter A., Hayward, Nicholas K., Van Overeem Hansen, Thomas, Wadt, Karin A.W.

“…TINF2 encodes the TINF2 protein, which is a subunit in the shelterin complex critical for telomere regulation. Three recent studies have associated six…”
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Novel Genetic Causes of Gastrointestinal Polyposis Syndromes by Jelsig, Anne Marie, Byrjalsen, Anna, Madsen, Majbritt Busk, Kuhlmann, Tine Plato, Hansen, Thomas van Overeem, Wadt, Karin A.W, Karstensen, John Gasdal

“…Hereditary polyposis syndromes are characterized by a large number and/or histopathologically specific polyps in the gastrointestinal tract and a high risk of…”
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Melanoma genetics by Read, Jazlyn, Wadt, Karin A W, Hayward, Nicholas K

“…Approximately 10% of melanoma cases report a relative affected with melanoma, and a positive family history is associated with an increased risk of developing…”
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Genetics of familial melanoma: 20 years after CDKN2A by Aoude, Lauren G., Wadt, Karin A. W., Pritchard, Antonia L., Hayward, Nicholas K.

“…Summary Twenty years ago, the first familial melanoma susceptibility gene, CDKN2A, was identified. Two years later, another high‐penetrance gene, CDK4, was…”
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Ciliary neurotrophic factor potentiates the β-cell inhibitory effect of IL-1β in rat pancreatic islets associated with increased nitric oxide synthesis and increased expression of inducible nitric oxide synthase by WADT, K. A. W, LARSEN, C. M, ANDERSEN, H. U, NIELSEN, K, KARLSEN, A. E, MANDRUP-POULSEN, T

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The evolutionary impact of childhood cancer on the human gene pool by Stoltze, Ulrik Kristoffer, Foss-Skiftesvik, Jon, Hansen, Thomas van Overeem, Rasmussen, Simon, Karczewski, Konrad J., Wadt, Karin A. W., Schmiegelow, Kjeld

“…Germline pathogenic variants associated with increased childhood mortality must be subject to natural selection. Here, we analyze publicly available germline…”
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National Experiences from 30 Years of Provider-Mediated Cascade Testing in Lynch Syndrome Families-The Danish Model by Lindberg, Lars Joachim, Wadt, Karin A W, Therkildsen, Christina, Petersen, Helle Vendel

“…Cascade genetic testing and surveillance reduce morbidity and mortality in Lynch syndrome. However, barriers to conveying information about genetic disorders…”
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Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting KCNQ1OT1 and associated phenotypes by Stoltze, Ulrik Kristoffer, Hansen, Thomas Van Overeem, Brok, Jesper Sune, Grønskov, Karen, Tumer, Zeynep, Ahlborn, Lise Barlebo, Schmiegelow, Kjeld, Wadt, Karin A W

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Clinical implications of genetic testing in familial intermediate and late-onset colorectal cancer by Djursby, Malene, Hansen, Thomas van Overeem, Wadt, Karin A. W., Madsen, Majbritt Busk, Berchtold, Lukas Adrian, Lautrup, Charlotte Kvist, Markholt, Sara, Jensen, Uffe Birk, Krogh, Lotte Nylandsted, Lundsgaard, Malene, Gerdes, Anne Marie, Nilbert, Mef, Therkildsen, Christina

“…The genetic background of familial, late-onset colorectal cancer (CRC) (i.e., onset > age 50 years) has not been studied as thoroughly as other subgroups of…”
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Risk of somatic hospitalization in parents after cancer in a child, a nationwide cohort study by Heymann, Annika, Alef‐Defoe, Sierra, Salem, Hanin, Andersen, Elisabeth Anne Wreford, Dalton, Susanne Oksbjerg, Schmiegelow, Kjeld, Wadt, Karin A. W., Winther, Jeanette Falck, Johansen, Christoffer, Bidstrup, Pernille Envold

“…Objective The diagnosis of cancer in a child is a profoundly stressful experience. The impact on parents' somatic health, including lifestyle‐related diseases,…”
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Putative new childhood leukemia cancer predisposition syndrome caused by germline bi‐allelic missense mutations in DDX41 by Diness, Birgitte R., Risom, Lotte, Frandsen, Thomas L., Hansen, Bente, Andersen, Mette K., Schmiegelow, Kjeld, Wadt, Karin A. W.

“…DDX41 has recently been identified as a new autosomal dominantly inherited cancer predisposition syndrome causing increased risk of adult onset acute myeloid…”
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Genetic counselling legislation and practice in cancer in EU Member States by McCrary, J Matt, Van Valckenborgh, Els, Poirel, Hélène A, de Putter, Robin, van Rooij, Jeroen, Horgan, Denis, Dierks, Marie-Luise, Antonova, Olga, Brunet, Joan, Chirita-Emandi, Adela, Colas, Chrystelle, Dalmas, Miriam, Ehrencrona, Hans, Grima, Claire, Janavičius, Ramūnas, Klink, Barbara, Koczok, Katalin, Krajc, Mateja, Lace, Baiba, Leitsalu, Liis, Mistrik, Martin, Paneque, Milena, Primorac, Dragan, Roetzer, Katharina M, Ronez, Joelle, Slámová, Lucie, Spanou, Elena, Stamatopoulos, Kostas, Stoklosa, Tomasz, Strang-Karlsson, Sonja, Szakszon, Katalin, Szczałuba, Krzysztof, Turner, Jacqueline, van Dooren, Marieke F, van Zelst-Stams, Wendy A G, Vassallo, Loredana-Maria, Wadt, Karin A W, Žigman, Tamara, Ripperger, Tim, Genuardi, Maurizio, Van den Bulcke, Marc, Bergmann, Anke Katharina

“…Abstract Background Somatic and germline genetic alterations are significant drivers of cancer. Increasing integration of new technologies which profile these…”
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A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma by Wadt, K.A.W., Aoude, L.G., Johansson, P., Solinas, A., Pritchard, A., Crainic, O., Andersen, M.T., Kiilgaard, J.F., Heegaard, S., Sunde, L., Federspiel, B., Madore, J., Thompson, J.F., McCarthy, S.W., Goodwin, A., Tsao, H., Jönsson, G., Busam, K., Gupta, R., Trent, J.M., Gerdes, A.-M., Brown, K.M., Scolyer, R.A., Hayward, N.K.

“…We report four previously undescribed families with germline BRCA1‐associated protein‐1 gene (BAP1) mutations and expand the clinical phenotype of this tumor…”
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Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT by Taylor, Nicholas J., Mitra, Nandita, Qian, Lu, Avril, Marie-Françoise, Bishop, D. Timothy, Bressac-de Paillerets, Brigitte, Bruno, William, Calista, Donato, Cuellar, Francisco, Cust, Anne E., Demenais, Florence, Elder, David E., Gerdes, Anne-Marie, Ghiorzo, Paola, Goldstein, Alisa M., Grazziotin, Thais C., Gruis, Nelleke A., Hansson, Johan, Harland, Mark, Hayward, Nicholas K., Hocevar, Marko, Höiom, Veronica, Holland, Elizabeth A., Ingvar, Christian, Landi, Maria Teresa, Landman, Gilles, Larre-Borges, Alejandra, Mann, Graham J., Nagore, Eduardo, Olsson, Håkan, Palmer, Jane M., Perić, Barbara, Pjanova, Dace, Pritchard, Antonia L., Puig, Susana, Schmid, Helen, van der Stoep, Nienke, Tucker, Margaret A., Wadt, Karin A.W., Yang, Xiaohong R., Newton-Bishop, Julia A., Kanetsky, Peter A.

“…Although rare in the general population, highly penetrant germline mutations in CDKN2A are responsible for 5%-40% of melanoma cases reported in melanoma-prone…”
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Birth cohort-specific trends of sun-related behaviors among individuals from an international consortium of melanoma-prone families by Lacson, John Charles A, Zamani, Shawn A, Froes, Jr, Luis Alberto Ribeiro, Mitra, Nandita, Qian, Lu, Doyle, Scarlet H, Azizi, Esther, Balestrini, Claudia, Bishop, D Timothy, Bruno, William, Carlos-Ortega, Blanca, Cuellar, Francisco, Cust, Anne E, Elder, David E, Gerdes, Anne-Marie, Ghiorzo, Paola, Grazziotin, Thais C, Gruis, Nelleke A, Hansson, Johan, Hočevar, Marko, Höiom, Veronica, Holland, Elizabeth A, Ingvar, Christian, Landman, Gilles, Larre-Borges, Alejandra, Mann, Graham J, Molgo, Montserrat, Moredo, Luciana Facure, Olsson, Håkan, Out-Luiting, Jacoba J, Perić, Barbara, Pjanova, Dace, Puig, Susana, Salas-Alanis, Julio, Schmid, Helen, Wadt, Karin A W, Newton-Bishop, Julia A, Kanetsky, Peter A

“…Individuals from melanoma-prone families have similar or reduced sun-protective behaviors compared to the general population. Studies on trends in sun-related…”
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Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families by Taylor, Nicholas J., Mitra, Nandita, Goldstein, Alisa M., Tucker, Margaret A., Avril, Marie-Françoise, Azizi, Esther, Bergman, Wilma, Bishop, D. Timothy, Bressac-de Paillerets, Brigitte, Bruno, William, Calista, Donato, Cannon-Albright, Lisa A., Cuellar, Francisco, Cust, Anne E., Demenais, Florence, Elder, David E., Gerdes, Anne-Marie, Ghiorzo, Paola, Grazziotin, Thais C., Hansson, Johan, Harland, Mark, Hayward, Nicholas K., Hocevar, Marko, Höiom, Veronica, Ingvar, Christian, Landi, Maria Teresa, Landman, Gilles, Larre-Borges, Alejandra, Leachman, Sancy A., Mann, Graham J., Nagore, Eduardo, Olsson, Håkan, Palmer, Jane M., Perić, Barbara, Pjanova, Dace, Pritchard, Antonia, Puig, Susana, van der Stoep, Nienke, Wadt, Karin A.W., Whitaker, Linda, Yang, Xiaohong R., Newton Bishop, Julia A., Gruis, Nelleke A., Kanetsky, Peter A.

“…Germline mutations in CDKN2A are frequently identified among melanoma kindreds and are associated with increased atypical nevus counts. However, a clear…”
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Germline TERT promoter mutations are rare in familial melanoma by Harland, Mark, Petljak, Mia, Robles-Espinoza, Carla Daniela, Ding, Zhihao, Gruis, Nelleke A., van Doorn, Remco, Pooley, Karen A., Dunning, Alison M., Aoude, Lauren G., Wadt, Karin A. W., Gerdes, Anne-Marie, Brown, Kevin M., Hayward, Nicholas K., Newton-Bishop, Julia A., Adams, David J., Bishop, D. Timothy

“…Germline CDKN2A mutations occur in 40 % of 3-or-more case melanoma families while mutations of CDK4 , BAP1 , and genes involved in telomere function ( ACD,…”
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Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition by Wadt, Karin A W, Aoude, Lauren G, Krogh, Lotte, Sunde, Lone, Bojesen, Anders, Grønskov, Karen, Wartacz, Nine, Ek, Jakob, Tolstrup-Andersen, Morten, Klarskov-Andersen, Mette, Borg, Åke, Heegaard, Steffen, Kiilgaard, Jens F, Hansen, Thomas V O, Klein, Kerenaftali, Jönsson, Göran, Drzewiecki, Krzysztof T, Dunø, Morten, Hayward, Nicholas K, Gerdes, Anne-Marie

“…Both environmental and host factors influence risk of cutaneous melanoma (CM), and worldwide, the incidence varies depending on constitutional determinants of…”
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High accuracy of family history of melanoma in Danish melanoma cases by Wadt, Karin A. W., Drzewiecki, Krzysztof T., Gerdes, Anne-Marie

“…The incidence of melanoma in Denmark has immensely increased over the last 10 years making Denmark a high risk country for melanoma. In the last two decades…”
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