Search Results - "Hansen, Thomas V.O"

IMP3 RNP Safe Houses Prevent miRNA-Directed HMGA2 mRNA Decay in Cancer and Development by Jønson, Lars, Christiansen, Jan, Hansen, Thomas V.O., Vikeså, Jonas, Yamamoto, Yohei, Nielsen, Finn C.

“…The IMP3 RNA-binding protein is associated with metastasis and poor outcome in human cancer. Using solid cancer transcriptome data, we found that IMP3…”
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Cholecystokinin gene transcription: promoter elements, transcription factors and signaling pathways by Hansen, Thomas v.O

“…Cholecystokinin (CCK) is a neuropeptide expressed in the small intestine and in the central and peripheral nervous system. CCK gene expression is both…”
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Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members by Thomassen, Mads, Blanco, Ana, Montagna, Marco, Hansen, Thomas V. O., Pedersen, Inge S., Gutiérrez-Enríquez, Sara, Menéndez, Mireia, Fachal, Laura, Santamariña, Marta, Steffensen, Ane Y., Jønson, Lars, Agata, Simona, Whiley, Phillip, Tognazzo, Silvia, Tornero, Eva, Jensen, Uffe B., Balmaña, Judith, Kruse, Torben A., Goldgar, David E., Lázaro, Conxi, Diez, Orland, Spurdle, Amanda B., Vega, Ana

“…Mutations in BRCA1 and BRCA2 predispose carriers to early onset breast and ovarian cancer. A common problem in clinical genetic testing is interpretation of…”
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silent mutation nucleotide 744 G → A, Lys172Lys, in exon 6 of BRCA2 results in exon skipping by Hansen, Thomas V. O, Steffensen, Ane Y, Jønson, Lars, Andersen, Mette K, Ejlertsen, Bent, Nielsen, Finn C

“…Germ-line mutations in BRCA2 predispose to breast and ovarian cancer. Mutations are widespread throughout the gene and include disease-causing mutations as…”
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Neuropeptide Y infusion into the shell region of the rat nucleus accumbens increases extracellular levels of dopamine by Sørensen, Gunnar, Wegener, Gregers, Hasselstrøm, Jørgen, Hansen, Thomas V.O, Wörtwein, Gitta, Fink-Jensen, Anders, Woldbye, David P.D

“…Increases in extracellular dopamine in the shell region of the nucleus accumbens are centrally involved in mediating reinforcement of addictive drugs…”
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Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers by Kuchenbaecker, Karoline B, McGuffog, Lesley, Barrowdale, Daniel, Lee, Andrew, Soucy, Penny, Dennis, Joe, Domchek, Susan M, Robson, Mark, Spurdle, Amanda B, Ramus, Susan J, Mavaddat, Nasim, Terry, Mary Beth, Neuhausen, Susan L, Schmutzler, Rita Katharina, Simard, Jacques, Pharoah, Paul D P, Offit, Kenneth, Couch, Fergus J, Chenevix-Trench, Georgia, Easton, Douglas F, Antoniou, Antonis C

“…Genome-wide association studies (GWAS) have identified 94 common single-nucleotide polymorphisms (SNPs) associated with breast cancer (BC) risk and 18…”
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Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study by Dowty, James G., Lee, Grant, Templeton, Allyson S., Alvarez, Karin, Ankathil, Ravindran, Austin, Rachel, Barca-Tierno, Verónica, Berthet, Pascaline, Boisjoli, Talya, Briollais, Laurent, Brunet, Joan, Bucksch, Karolin, Buettner, Reinhard, Burn, John, Caldés, Trinidad, Casey, Graham, Chew, Min H., Choi, Yun-hee, Church, James, Clendenning, Mark, Colas, Chrystelle, Coupier, Isabelle, de la Chapelle, Albert, Dębniak, Tadeusz, Della Valle, Adriana, Dominguez-Valentin, Mev, Engel, Christoph, Esperon, Patricia, Foulkes, William, Frebourg, Thierry, Gallinger, Steven, Garre, Pilar, Genuardi, Maurizio, Giraud, Sophie, Goodwin, Annabel, Green, Kate, Guindalini, Rodrigo S.C., Half, Elizabeth E., Hampel, Heather, Ho, Judy W.C., Hoogerbrugge, Nicoline, Hüneburg, Robert, Huntley, Vanessa, Jensen, Uffe B, Juhari, Wan K.W., Kloor, Matthias, Kupfer, Sonia S., Lagerstedt-Robinson, Kristina, Lalloo, Fiona, Lautrup, Charlotte K., Leggett, Barbara A., Lejeune, Sophie, Lindor, Noralane, Loeffler, Markus, Lucassen, Anneke M, Lynch, Patrick M., Møller, Pål, Navarro, Matilde, Neffa, Florencia, Neklason, Deborah, Nixon, Dawn M., Palmero, Edenir I., Pande, Mala, Parry, Susan, Pineda, Marta, Qiu, Jay, Ramesar, Raj, Rasmussen, Lene J., Redler, Silke, Ricciardiello, Luigi, Schulmann, Karsten, Schuster, Helène, Senter, Leigha, Seppälä, Toni T, Shtoyerman, Rakefet, Sijmons, Rolf H., Soto, Jose Luis, Spigelman, Allan, Steinke-Lange, Verena, Stoffel, Elena M., Strassburg, Christian P., Sunde, Lone, Therkildsen, Christina, Thibodeau, Steve, Tucker, Katherine M., Tunca, Berrin, Uhrhammer, Nancy, Vaccaro, Carlos, van Duijnhoven, Fränzel J.B., van Wanzeele, Meghan J., Vasen, Hans F.A., von Knebel Doeberitz, Magnus, von Salomé, Jenny, Ward, Robyn L., Wise, Paul E., Yamaguchi, Tatsuro, Zahary, Mohd N., Hopper, John L., Haile, Robert W., Jenkins, Mark A.

“…Existing clinical practice guidelines for carriers of pathogenic variants of DNA mismatch repair genes (Lynch syndrome) are based on the mean age-specific…”
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Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores by Lecarpentier, Julie, Silvestri, Valentina, Kuchenbaecker, Karoline B, Barrowdale, Daniel, Dennis, Joe, McGuffog, Lesley, Soucy, Penny, Leslie, Goska, Rizzolo, Piera, Navazio, Anna Sara, Valentini, Virginia, Zelli, Veronica, Lee, Andrew, Amin Al Olama, Ali, Tyrer, Jonathan P, Southey, Melissa, John, Esther M, Conner, Thomas A, Goldgar, David E, Buys, Saundra S, Janavicius, Ramunas, Steele, Linda, Ding, Yuan Chun, Neuhausen, Susan L, Hansen, Thomas V O, Osorio, Ana, Weitzel, Jeffrey N, Toss, Angela, Medici, Veronica, Cortesi, Laura, Zanna, Ines, Palli, Domenico, Radice, Paolo, Manoukian, Siranoush, Peissel, Bernard, Azzollini, Jacopo, Viel, Alessandra, Cini, Giulia, Damante, Giuseppe, Tommasi, Stefania, Peterlongo, Paolo, Fostira, Florentia, Hamann, Ute, Evans, D Gareth, Henderson, Alex, Brewer, Carole, Eccles, Diana, Cook, Jackie, Ong, Kai-Ren, Walker, Lisa, Side, Lucy E, Porteous, Mary E, Davidson, Rosemarie, Hodgson, Shirley, Frost, Debra, Adlard, Julian, Izatt, Louise, Eeles, Ros, Ellis, Steve, Tischkowitz, Marc, Godwin, Andrew K, Meindl, Alfons, Gehrig, Andrea, Dworniczak, Bernd, Sutter, Christian, Engel, Christoph, Niederacher, Dieter, Steinemann, Doris, Hahnen, Eric, Hauke, Jan, Rhiem, Kerstin, Kast, Karin, Arnold, Norbert, Ditsch, Nina, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Wand, Dorothea, Lasset, Christine, Stoppa-Lyonnet, Dominique, Belotti, Muriel, Damiola, Francesca, Barjhoux, Laure, Mazoyer, Sylvie, Van Heetvelde, Mattias, Poppe, Bruce, De Leeneer, Kim, Claes, Kathleen B M, de la Hoya, Miguel, Garcia-Barberan, Vanesa, Caldes, Trinidad, Perez Segura, Pedro, Kiiski, Johanna I, Aittomäki, Kristiina, Khan, Sofia, Nevanlinna, Heli, van Asperen, Christi J, Vaszko, Tibor, Kasler, Miklos, Olah, Edith, Balmaña, Judith

“…Purpose BRCA1/2 mutations increase the risk of breast and prostate cancer in men. Common genetic variants modify cancer risks for female carriers of BRCA1/2…”
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The genetic prehistory of the New World Arctic by Raghavan, Maanasa, DeGiorgio, Michael, Albrechtsen, Anders, Moltke, Ida, Skoglund, Pontus, Korneliussen, Thorfinn S., Grønnow, Bjarne, Appelt, Martin, Gulløv, Hans Christian, Friesen, T. Max, Fitzhugh, William, Malmström, Helena, Rasmussen, Simon, Olsen, Jesper, Melchior, Linea, Fuller, Benjamin T., Fahrni, Simon M., Stafford, Thomas, Grimes, Vaughan, Renouf, M. A. Priscilla, Cybulski, Jerome, Lynnerup, Niels, Lahr, Marta Mirazon, Britton, Kate, Knecht, Rick, Arneborg, Jette, Metspalu, Mait, Cornejo, Omar E., Malaspinas, Anna-Sapfo, Wang, Yong, Rasmussen, Morten, Raghavan, Vibha, Hansen, Thomas V. O., Khusnutdinova, Elza, Pierre, Tracey, Dneprovsky, Kirill, Andreasen, Claus, Lange, Hans, Hayes, M. Geoffrey, Coltrain, Joan, Spitsyn, Victor A., Götherström, Anders, Orlando, Ludovic, Kivisild, Toomas, Villems, Richard, Crawford, Michael H., Nielsen, Finn C., Dissing, Jørgen, Heinemeier, Jan, Meldgaard, Morten, Bustamante, Carlos, O’Rourke, Dennis H., Jakobsson, Mattias, Gilbert, M. Thomas P., Nielsen, Rasmus, Willerslev, Eske

“…The New World Arctic, the last region of the Americas to be populated by humans, has a relatively well-researched archaeology, but an understanding of its…”
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Ancient human genome sequence of an extinct Palaeo-Eskimo by Wang, Jun, Willerslev, Eske, Rasmussen, Morten, Li, Yingrui, Lindgreen, Stinus, Pedersen, Jakob Skou, Albrechtsen, Anders, Moltke, Ida, Metspalu, Mait, Metspalu, Ene, Kivisild, Toomas, Gupta, Ramneek, Bertalan, Marcelo, Nielsen, Kasper, Gilbert, M. Thomas P, Wang, Yong, Raghavan, Maanasa, Campos, Paula F, Kamp, Hanne Munkholm, Wilson, Andrew S, Gledhill, Andrew, Tridico, Silvana, Bunce, Michael, Lorenzen, Eline D, Binladen, Jonas, Guo, Xiaosen, Zhao, Jing, Zhang, Xiuqing, Zhang, Hao, Li, Zhuo, Chen, Minfeng, Orlando, Ludovic, Kristiansen, Karsten, Bak, Mads, Tommerup, Niels, Bendixen, Christian, Pierre, Tracey L, Grønnow, Bjarne, Meldgaard, Morten, Andreasen, Claus, Fedorova, Sardana A, Osipova, Ludmila P, Higham, Thomas F. G, Ramsey, Christopher Bronk, Hansen, Thomas v. O, Nielsen, Finn C, Crawford, Michael H, Brunak, Søren, Sicheritz-Pontén, Thomas, Villems, Richard, Nielsen, Rasmus, Krogh, Anders

“…We report here the genome sequence of an ancient human. Obtained from ∼4,000-year-old permafrost-preserved hair, the genome represents a male individual from…”
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Pathology of Breast and Ovarian Cancers among BRCA1 and BRCA2 Mutation Carriers: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) by MAVADDAT, Nasim, BARROWDALE, Daniel, MULLIGAN, Anna Marie, COUCH, Fergus J, ENGEL, Christoph, MCGUFFOG, Lesley, HEALER, Sue, SINILNIKOVA, Olga M, SOUTHEY, Melissa C, TERRY, Mary Beth, GOLDGAR, David, O'MALLEY, Frances, ANDRULIS, Irene L, JOHN, Esther M, JANAVICIUS, Ramunas, TIHOMIROVA, Laima, HANSEN, Thomas V. O, NIELSEN, Finn C, OSORIO, Ana, STAVROPOULOU, Alexandra, BENITEZ, Javier, MANOUKIAN, Siranoush, PEISSEL, Bernard, DOMCHEK, Susan M, BARILE, Monica, VOLORIO, Sara, PASIN, Barbara, DOLCETTI, Riccardo, PUTIGNANO, Anna Laura, OTTINI, Laura, RADICE, Paolo, HAMANN, Ute, RASHID, Muhammad U, HOGERVORST, Frans B, ECCLES, Diana, KRIEGE, Mieke, VAN DER LUIJT, Rob B, HEBON, PEOCK, Susan, FROST, Debra, GARETH EVANS, D, BREWER, Carole, WALKER, Lisa, ROGERS, Mark T, SIDE, Lucy E, NEVANLINNA, Heli, HOUGHTON, Catherine, EMBRACE, WEAVER, Joellen, GODWIN, Andrew K, SCHMUTZLER, Rita K, WAPPENSCHMIDT, Barbara, MEINDL, Alfons, KAST, Karin, RAMUS, Susan J, SPURDLE, Amanda, ROBSON, Mark, SHERMAN, Mark

“…Previously, small studies have found that BRCA1 and BRCA2 breast tumors differ in their pathology. Analysis of larger datasets of mutation carriers should…”
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Identification of six new susceptibility loci for invasive epithelial ovarian cancer by Lee, Andrew, Pejovic, Tanja, Li, Qiyuan, Hazelett, Dennis, Miron, Alexander, Southey, Melissa, Terry, Mary Beth, Buys, Saundra S, Janavicius, Ramunas, Barrowdale, Daniel, Dennis, Joe, Papi, Laura, Konstantopoulou, Irene, Frost, Debra, Platte, Radka, Ellis, Steve, Sinilnikova, Olga M, Damiola, Francesca, Mazoyer, Sylvie, Stoppa-Lyonnet, Dominique, Piedmonte, Marion, O'Malley, David M, de la Hoya, Miguel, Aittomäki, Kristiina, Rookus, Matti A, Tihomirova, Laima, Hamann, Ute, Imyanitov, Evgeny N, Hogervorst, Frans B L, Diez, Orland, Blanco, Ignacio, Lubinski, Jan, Sukiennicki, Grzegorz, Barkardottir, Rosa B, Plante, Marie, Montagna, Marco, Tognazzo, Silvia, Teixeira, Manuel R, Pankratz, Vernon S, Wang, Xianshu, Vijai, Joseph, Aghajanian, Carol A, Berger, Andreas, Tea, Muy-Kheng, Rennert, Gad, Glendon, Gord, Kruse, Torben A, Thomassen, Mads, Zidan, Jamal, Einbeigi, Zakaria, Nussbaum, Robert L, Lester, Jenny, Lambrechts, Diether, Lambrechts, Sandrina, Dicks, Ed, Rossing, Mary Anne, Eilber, Ursula, Wilkens, Lynne R, Hillemanns, Peter, Antonenkova, Natalia, Leminen, Arto, Modugno, Francesmary, Ness, Roberta B, Matsuo, Keitaro, Hosono, Satoyo, Kjaer, Susanne Kruger, Hogdall, Estrid, Woo, Yin-Ling, Goode, Ellen L, Berchuck, Andrew, Iversen, Edwin S, Cramer, Daniel W, Terry, Kathryn L, Bandera, Elisa V, Orlow, Irene, Tangen, Ingvild L, Aben, Katja K H, Brooks-Wilson, Angela, Cybulski, Cezary, Lundvall, Lene, Baker, Helen, Eccles, Diana, Paul, James, Carty, Karen, McGuire, Valerie, Zheng, Wei, Gao, Yu-Tang, Rosen, Barry, Risch, Harvey A, Narod, Steven A, Monteiro, Alvaro N, Lin, Hui-Yi, Tsai, Ya-Yu, Ziogas, Argyrios, Anton-Culver, Hoda, Gentry-Maharaj, Aleksandra, Menon, Usha, Dansonka-Mieszkowska, Agnieszka, Easton, Douglas F, Chenevix-Trench, Georgia

“…Georgia Chenevix-Trench and colleagues report meta-analyses of genome-wide association studies identifying six loci newly associated with epithelial ovarian…”
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Classification of MSH6 Variants of Uncertain Significance Using Functional Assays by Frederiksen, Jane H., Jensen, Sara B., Tümer, Zeynep, Hansen, Thomas v. O.

“…Lynch syndrome (LS) is one of the most common hereditary cancer predisposition syndromes worldwide. Individuals with LS have a high risk of developing…”
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Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk by Couch, Fergus J, Wang, Xianshu, McGuffog, Lesley, Lee, Andrew, Olswold, Curtis, Kuchenbaecker, Karoline B, Soucy, Penny, Fredericksen, Zachary, Barrowdale, Daniel, Dennis, Joe, Gaudet, Mia M, Dicks, Ed, Kosel, Matthew, Healey, Sue, Sinilnikova, Olga M, Lee, Adam, Bacot, François, Vincent, Daniel, Hogervorst, Frans B L, Peock, Susan, Stoppa-Lyonnet, Dominique, Jakubowska, Anna, Radice, Paolo, Schmutzler, Rita Katharina, Domchek, Susan M, Piedmonte, Marion, Singer, Christian F, Friedman, Eitan, Thomassen, Mads, Hansen, Thomas V O, Neuhausen, Susan L, Szabo, Csilla I, Blanco, Ignacio, Greene, Mark H, Karlan, Beth Y, Garber, Judy, Phelan, Catherine M, Weitzel, Jeffrey N, Montagna, Marco, Olah, Edith, Andrulis, Irene L, Godwin, Andrew K, Yannoukakos, Drakoulis, Goldgar, David E, Caldes, Trinidad, Nevanlinna, Heli, Osorio, Ana, Terry, Mary Beth, Daly, Mary B, van Rensburg, Elizabeth J, Hamann, Ute, Ramus, Susan J, Toland, Amanda Ewart, Caligo, Maria A, Olopade, Olufunmilayo I, Tung, Nadine, Claes, Kathleen, Beattie, Mary S, Southey, Melissa C, Imyanitov, Evgeny N, Tischkowitz, Marc, Janavicius, Ramunas, John, Esther M, Kwong, Ava, Diez, Orland, Balmaña, Judith, Barkardottir, Rosa B, Arun, Banu K, Rennert, Gad, Teo, Soo-Hwang, Ganz, Patricia A, Campbell, Ian, van der Hout, Annemarie H, van Deurzen, Carolien H M, Seynaeve, Caroline, Gómez Garcia, Encarna B, van Leeuwen, Flora E, Meijers-Heijboer, Hanne E J, Gille, Johannes J P, Ausems, Margreet G E M, Blok, Marinus J, Ligtenberg, Marjolijn J L, Rookus, Matti A, Devilee, Peter, Verhoef, Senno, van Os, Theo A M, Wijnen, Juul T, Frost, Debra, Ellis, Steve, Fineberg, Elena, Platte, Radka, Evans, D Gareth, Izatt, Louise, Eeles, Rosalind A, Adlard, Julian, Eccles, Diana M, Cook, Jackie, Brewer, Carole, Douglas, Fiona, Hodgson, Shirley

“…BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a…”
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Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel by Spier, Isabel, Yin, Xiaoyu, Richardson, Marcy, Pineda, Marta, Laner, Andreas, Ritter, Deborah, Boyle, Julie, Mur, Pilar, Hansen, Thomas v O., Shi, Xuemei, Mahmood, Khalid, Plazzer, John-Paul, Ognedal, Elisabet, Nordling, Margareta, Farrington, Susan M., Yamamoto, Gou, Baert-Desurmont, Stéphanie, Martins, Alexandra, Borras, Ester, Tops, Carli, Webb, Erica, Beshay, Victoria, Genuardi, Maurizio, Pesaran, Tina, Capellá, Gabriel, Tavtigian, Sean V., Latchford, Andrew, Frayling, Ian M., Plon, Sharon E., Greenblatt, Marc, Macrae, Finlay A., Aretz, Stefan

“…The Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel (VCEP) was established by the International Society for Gastrointestinal Hereditary…”
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Functional Assays for Analysis of Variants of Uncertain Significance in BRCA2 by Guidugli, Lucia, Carreira, Aura, Caputo, Sandrine M., Ehlen, Asa, Galli, Alvaro, Monteiro, Alvaro N.A., Neuhausen, Susan L., Hansen, Thomas V.O., Couch, Fergus J., Vreeswijk, Maaike P.G.

“…ABSTRACT Missense variants in the BRCA2 gene are routinely detected during clinical screening for pathogenic mutations in patients with a family history of…”
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Functional characterization of BRCA1 gene variants by mini-gene splicing assay by Steffensen, Ane Y, Dandanell, Mette, Jønson, Lars, Ejlertsen, Bent, Gerdes, Anne-Marie, Nielsen, Finn C, Hansen, Thomas vO

“…Mutational screening of the breast cancer susceptibility gene BRCA1 leads to the identification of numerous pathogenic variants such as frameshift and nonsense…”
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BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers by Meeks, Huong D, Song, Honglin, Michailidou, Kyriaki, Bolla, Manjeet K, Dennis, Joe, Wang, Qin, Barrowdale, Daniel, Frost, Debra, McGuffog, Lesley, Ellis, Steve, Feng, Bingjian, Buys, Saundra S, Hopper, John L, Southey, Melissa C, Tesoriero, Andrea, James, Paul A, Bruinsma, Fiona, Campbell, Ian G, Broeks, Annegien, Schmidt, Marjanka K, Hogervorst, Frans B L, Beckman, Matthias W, Fasching, Peter A, Fletcher, Olivia, Johnson, Nichola, Sawyer, Elinor J, Riboli, Elio, Banerjee, Susana, Menon, Usha, Tomlinson, Ian, Burwinkel, Barbara, Hamann, Ute, Marme, Frederik, Rudolph, Anja, Janavicius, Ramunas, Tihomirova, Laima, Tung, Nadine, Garber, Judy, Cramer, Daniel, Terry, Kathryn L, Poole, Elizabeth M, Tworoger, Shelley S, Dorfling, Cecilia M, van Rensburg, Elizabeth J, Godwin, Andrew K, Guénel, Pascal, Truong, Thérèse, Stoppa-Lyonnet, Dominique, Damiola, Francesca, Mazoyer, Sylvie, Sinilnikova, Olga M, Isaacs, Claudine, Maugard, Christine, Bojesen, Stig E, Flyger, Henrik, Gerdes, Anne-Marie, Hansen, Thomas V O, Jensen, Allen, Kjaer, Susanne K, Hogdall, Claus, Hogdall, Estrid, Pedersen, Inge Sokilde, Thomassen, Mads, Benitez, Javier, González-Neira, Anna, Osorio, Ana, Hoya, Miguel de la, Segura, Pedro Perez, Diez, Orland, Lazaro, Conxi, Brunet, Joan, Anton-Culver, Hoda, Eunjung, Lee, John, Esther M, Neuhausen, Susan L, Ding, Yuan Chun, Castillo, Danielle, Weitzel, Jeffrey N, Ganz, Patricia A, Nussbaum, Robert L, Chan, Salina B, Karlan, Beth Y, Lester, Jenny, Wu, Anna, Gayther, Simon, Ramus, Susan J, Sieh, Weiva, Whittermore, Alice S, Monteiro, Alvaro N A, Phelan, Catherine M, Terry, Mary Beth, Piedmonte, Marion, Offit, Kenneth, Robson, Mark, Levine, Douglas, Moysich, Kirsten B, Cannioto, Rikki, Olson, Sara H, Daly, Mary B, Nathanson, Katherine L

“…The K3326X variant in BRCA2 (BRCA2*c.9976A>T; p.Lys3326*; rs11571833) has been found to be associated with small increased risks of breast cancer. However, it…”
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IGF2 mRNA-binding protein 2: biological function and putative role in type 2 diabetes by Christiansen, Jan, Kolte, Astrid M, Hansen, Thomas v O, Nielsen, Finn C

“…Recent genome-wide association (GWA) studies of type 2 diabetes (T2D) have implicated IGF2 mRNA-binding protein 2 (IMP2/IGF2BP2) as one of the several factors…”
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Next-Generation Sequencing-Based Detection of Germline Copy Number Variations in BRCA1/BRCA2: Validation of a One-Step Diagnostic Workflow by Schmidt, Ane Y, Hansen, Thomas V O, Ahlborn, Lise B, Jønson, Lars, Yde, Christina W, Nielsen, Finn C

“…Genetic testing of BRCA1/2 includes screening for single nucleotide variants and small insertions/deletions and for larger copy number variations (CNVs),…”
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