Hereditary Breast Cancer: Clinical, Pathological and Molecular Characteristics

Por Larsen, Martin J, Thomassen, Mads, Gerdes, Anne-Marie, Kruse, Torben A
Publicado em 2014

Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations

Por Steffensen, Ane Y., Jønson, Lars, Ejlertsen, Bent, Gerdes, Anne-Marie, Nielsen, Finn C., Hansen, Thomas V. O.
Publicado em 2010

A novel DICER1 mutation identified in a female with ovarian Sertoli-Leydig cell tumor and multinodular goiter: a case report

Por Rossing, Maria, Gerdes, Anne-Marie, Juul, Anders, Rechnitzer, Catherine, Rudnicki, Martin, Nielsen, Finn C, vO Hansen, Thomas
Publicado no J Med Case Rep (2014)

Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis

Por Joergensen, Maiken T., Geisz, Andrea, Brusgaard, Klaus, de Muckadell, Ove B. Schaffalitzky, Hegyi, Péter, Gerdes, Anne-Marie, Sahin-Tóth, Miklós
Publicado em 2011

Functional characterization of BRCA1 gene variants by mini-gene splicing assay

Por Steffensen, Ane Y, Dandanell, Mette, Jønson, Lars, Ejlertsen, Bent, Gerdes, Anne-Marie, Nielsen, Finn C, Hansen, Thomas vO
Publicado no Eur J Hum Genet (2014)

Cowden Syndrome and Concomitant Pulmonary Neuroendocrine Tumor: A Presentation of Two Cases

Por Langer, Seppo W., Ringholm, Lene, Dali, Christine I., Petersen, Rene Horsleben, Rasmussen, Åse Krogh, Gerdes, Anne-Marie, Federspiel, Birgitte, Knigge, Ulrich Peter
Publicado no Case Rep Med (2015)

Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients

Por Bennedbæk, Marc, Rossing, Maria, Rasmussen, Åse K., Gerdes, Anne-Marie, Skytte, Anne-Bine, Jensen, Uffe B., Nielsen, Finn C., Hansen, Thomas v. O.
Publicado no Hered Cancer Clin Pract (2016)

RNA profiling reveals familial aggregation of molecular subtypes in non-BRCA1/2 breast cancer families

Por Larsen, Martin J, Thomassen, Mads, Tan, Qihua, Lænkholm, Anne-Vibeke, Bak, Martin, Sørensen, Kristina P, Andersen, Mette Klarskov, Kruse, Torben A, Gerdes, Anne-Marie
Publicado em 2014

A BAP1 Mutation in a Danish Family Predisposes to Uveal Melanoma and Other Cancers

Por Aoude, Lauren G., Wadt, Karin, Bojesen, Anders, Crüger, Dorthe, Borg, Åke, Trent, Jeffrey M., Brown, Kevin M., Gerdes, Anne-Marie, Jönsson, Göran, Hayward, Nicholas K.
Publicado em 2013

Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients

Por Petersen, Sanne M, Dandanell, Mette, Rasmussen, Lene J, Gerdes, Anne-Marie, Krogh, Lotte N, Bernstein, Inge, Okkels, Henrik, Wikman, Friedrik, Nielsen, Finn C, Hansen, Thomas v O
Publicado em 2013

Classifications within Molecular Subtypes Enables Identification of BRCA1/BRCA2 Mutation Carriers by RNA Tumor Profiling

Por Larsen, Martin J., Kruse, Torben A., Tan, Qihua, Lænkholm, Anne-Vibeke, Bak, Martin, Lykkesfeldt, Anne E., Sørensen, Kristina P., Hansen, Thomas v. O., Ejlertsen, Bent, Gerdes, Anne-Marie, Thomassen, Mads
Publicado em 2013

FUNCTIONAL ANALYSIS OF BRCA1 C-TERMINAL MISSENSE MUTATIONS IDENTIFIED IN BREAST AND OVARIAN CANCER FAMILIES

Por Vallon-Christersson, Johan, Cayanan, Charmagne, Haraldsson, Karin, Loman, Niklas, Bergthorsson, Jon Thor, Brøndum-Nielsen, Karen, Gerdes, Anne-Marie, Møller, Pål, Kristoffersson, Ulf, Olsson, Håkan, Borg, Åke, Monteiro, Alvaro N.A.
Publicado no Hum Mol Genet (2001)

Cancer occurrence during follow-up of the CAPP2 study -aspirin use for up to four years significantly reduces Lynch syndrome cancers for up to several years after completion of the...

Por Burn, John, Mathers, John C, Gerdes, Anne-Marie, Bisgaard, MarieLuise, Evans, Gareth, Eccles, Diana, Lindblom, Annika, Macrae, Findlay, Maher, Eamonn R, Mecklin, Jukka-Pekka, Moslein, Gabriela, Olschwang, Sylviane, Ramesar, Raj, Vasen, Hans FA, Wijnen, Juul, Barker, Gail, Elliott, Faye, Lynch, Henry, Bishop, D Tim
Publicado em 2010

Germline TERT promoter mutations are rare in familial melanoma

Por 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
Publicado no Fam Cancer (2015)

Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4

Por Johansson, Peter, Aoude, Lauren G., Wadt, Karin, Glasson, William J., Warrier, Sunil K., Hewitt, Alex W., Kiilgaard, Jens Folke, Heegaard, Steffen, Isaacs, Tim, Franchina, Maria, Ingvar, Christian, Vermeulen, Tersia, Whitehead, Kevin J., Schmidt, Christopher W., Palmer, Jane M., Symmons, Judith, Gerdes, Anne-Marie, Jönsson, Göran, Hayward, Nicholas K.
Publicado no Oncotarget (2015)

Molecular Characterization of Melanoma Cases in Denmark Suspected of Genetic Predisposition

Por 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
Publicado no PLoS One (2015)

Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

Por Burn, John, Gerdes, Anne-Marie, Macrae, Finlay, Mecklin, Jukka-Pekka, Moeslein, Gabriela, Olschwang, Sylviane, Eccles, Diane, Evans, D Gareth, Maher, Eamonn R, Bertario, Lucio, Bisgaard, Marie-Luise, Dunlop, Malcolm G, Ho, Judy WC, Hodgson, Shirley V, Lindblom, Annika, Lubinski, Jan, Morrison, Patrick J, Murday, Victoria, Ramesar, Raj, Side, Lucy, Scott, Rodney J, Thomas, Huw JW, Vasen, Hans F, Barker, Gail, Crawford, Gillian, Elliott, Faye, Movahedi, Mohammad, Pylvanainen, Kirsi, Wijnen, Juul T, Fodde, Riccardo, Lynch, Henry T, Mathers, John C, Bishop, D Timothy
Publicado em 2011

Tamoxifen and Risk of Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers

Por Phillips, Kelly-Anne, Milne, Roger L., Rookus, Matti A., Daly, Mary B., Antoniou, Antonis C., Peock, Susan, Frost, Debra, Easton, Douglas F., Ellis, Steve, Friedlander, Michael L., Buys, Saundra S., Andrieu, Nadine, Noguès, Catherine, Stoppa-Lyonnet, Dominique, Bonadona, Valérie, Pujol, Pascal, McLachlan, Sue Anne, John, Esther M., Hooning, Maartje J., Seynaeve, Caroline, Tollenaar, Rob A.E.M., Goldgar, David E., Beth Terry, Mary, Caldes, Trinidad, Weideman, Prue C., Andrulis, Irene L., Singer, Christian F., Birch, Kate, Simard, Jacques, Southey, Melissa C., Olsson, Håkan L., Jakubowska, Anna, Olah, Edith, Gerdes, Anne-Marie, Foretova, Lenka, Hopper, John L.
Publicado em 2013

Nonsense Mutations in the Shelterin Complex Genes ACD and TERF2IP in Familial Melanoma

Por Aoude, Lauren G., Pritchard, Antonia L., Robles-Espinoza, Carla Daniela, Wadt, Karin, Harland, Mark, Choi, Jiyeon, Gartside, Michael, Quesada, Víctor, Johansson, Peter, Palmer, Jane M., Ramsay, Andrew J., Zhang, Xijun, Jones, Kristine, Symmons, Judith, Holland, Elizabeth A., Schmid, Helen, Bonazzi, Vanessa, Woods, Susan, Dutton-Regester, Ken, Stark, Mitchell S., Snowden, Helen, van Doorn, Remco, Montgomery, Grant W., Martin, Nicholas G., Keane, Thomas M., López-Otín, Carlos, Gerdes, Anne-Marie, Olsson, Håkan, Ingvar, Christian, Borg, Åke, Gruis, Nelleke A., Trent, Jeffrey M., Jönsson, Göran, Bishop, D. Timothy, Mann, Graham J., Newton-Bishop, Julia A., Brown, Kevin M., Adams, David J., Hayward, Nicholas K.
Publicado no J Natl Cancer Inst (2014)

Phenotypic and histopathological tumor characteristics according to CDKN2A mutation status among affected members of melanoma families

Por Taylor, Nicholas J., Handorf, Elizabeth A., Mitra, Nandita, Avril, Marie-Françoise, Azizi, Esther, Bergman, Wilma, Bianchi-Scarrà, Giovanna, Bishop, D. Timothy, Bressac-de Paillerets, Brigitte, Calista, Donato, Cannon-Albright, Lisa A., Cuellar, Francisco, Cust, Anne E., Demenais, Florence, Elder, David E., Friedman, Eitan, Gerdes, Anne-Marie, Ghiorzo, Paola, Goldstein, Alisa M., Grazziotin, Thais C., Hansson, Johan, Hayward, Nicholas K., Hocevar, Marko, Höiom, Veronica, Holland, Elizabeth A., Ingvar, Christian, Landi, Maria Teresa, Landman, Gilles, Larre-Borges, Alejandra, Leachman, Sancy A., Mann, Graham J., Nagore, Eduardo, Olsson, Håkan, Palmer, Jane, Perić, Barbara, Pjanova, Dace, Puig, Susana, Schmid, Helen, van der Stoep, Nienke, Tucker, Margaret A., Wadt, Karin A. W., Whitaker, Linda, Yang, Xiaohong R., Newton Bishop, Julia A., Gruis, Nelleke A., Kanetsky, Peter A.
Publicado no J Invest Dermatol (2016)