Search Results - "Guidugli, L"

Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes by Guidugli, L, Johnson, A K, Alkorta-Aranburu, G, Nelakuditi, V, Arndt, K, Churpek, J E, Godley, L A, Townsley, D, Young, N S, Fitzpatrick, C, del Gaudio, D, Das, S, Li, Z

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Methyl group metabolism gene polymorphisms as modifier of breast cancer risk in Italian BRCA1/2 carriers by PEPE, C, GUIDUGLI, L, BEVILACQUA, G, CALIGO, M. A, SENSI, E, ARETINI, P, D'ANDREA, E, MONTAGNA, M, MANOUKIAN, S, OTTINI, L, RADICE, P, VIEL, A

“…BRCA1 and 2 are major cancer susceptibility genes but their penetrance is highly variable. The folate metabolism plays an important role in DNA methylation and…”
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722 Characterisation of gene expression profiles in HeLa cells expressing BRCA1 missense variants by Caligo, M, Mariotti, V, Melissari, E, Guidugli, L, Iofrida, C, Rugani, C, Lombardi, G, Pellegrini, S

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A multi-centre international quality control study comparing mRNA splicing assay protocols and reporting practices from the ENIGMA consortium by Whiley, P, Walker, LC, De LA Hoya, M, Wappenschmidt, B, Becker, A, Blanco, A, Blok, MJ, Caligo, MA, Chatfield, C, Couch, F, Diez, O, Fachal, L, Guidugli, L, Enríquez, S, Hansen, T, Houdayer, C, Imrie, S, Lafferty, A, Lázaro, C, Menéndez, M, Montagna, M, Montalbán, G, Santamariña, M, Pederson, I, Southey, M, Tancredi, M, Tenès, A, Thomassen, M, Van Overeem Vega, A, Spurdle, AB, Brown, MA

“…Doc number: A87…”
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Genome sequencing detects a wide range of clinically relevant copy-number variants and other genomic alterations by James, Kiely N, Chowdhury, Shimul, Ding, Yan, Batalov, Sergey, Watkins, Kelly, Kwon, Yong Hyun, Van Der Kraan, Lucitia, Ellsworth, Katarzyna, Kingsmore, Stephen F, Guidugli, Lucia

“…Copy-number variants (CNVs) and other non-single nucleotide variant/indel variant types contribute an important proportion of diagnoses in individuals with…”
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BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer by Shimelis, Hermela, Mesman, Romy L S, Von Nicolai, Catharina, Ehlen, Asa, Guidugli, Lucia, Martin, Charlotte, Calléja, Fabienne M G R, Meeks, Huong, Hallberg, Emily, Hinton, Jamie, Lilyquist, Jenna, Hu, Chunling, Aalfs, Cora M, Aittomäki, Kristiina, Andrulis, Irene, Anton-Culver, Hoda, Arndt, Volker, Beckmann, Matthias W, Benitez, Javier, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Borresen-Dale, Anne-Lise, Brauch, Hiltrud, Brennan, Paul, Brenner, Hermann, Broeks, Annegien, Brouwers, Barbara, Brüning, Thomas, Burwinkel, Barbara, Chang-Claude, Jenny, Chenevix-Trench, Georgia, Cheng, Ching-Yu, Choi, Ji-Yeob, Collée, J Margriet, Cox, Angela, Cross, Simon S, Czene, Kamila, Darabi, Hatef, Dennis, Joe, Dörk, Thilo, Dos-Santos-Silva, Isabel, Dunning, Alison M, Fasching, Peter A, Figueroa, Jonine, Flyger, Henrik, García-Closas, Montserrat, Giles, Graham G, Glendon, Gord, Guénel, Pascal, Haiman, Christopher A, Hall, Per, Hamann, Ute, Hartman, Mikael, Hogervorst, Frans B, Hollestelle, Antoinette, Hopper, John L, Ito, Hidemi, Jakubowska, Anna, Kang, Daehee, Kosma, Veli-Matti, Kristensen, Vessela, Lai, Kah-Nyin, Lambrechts, Diether, Marchand, Loic Le, Li, Jingmei, Lindblom, Annika, Lophatananon, Artitaya, Lubinski, Jan, Machackova, Eva, Mannermaa, Arto, Margolin, Sara, Marme, Frederik, Matsuo, Keitaro, Miao, Hui, Michailidou, Kyriaki, Milne, Roger L, Muir, Kenneth, Neuhausen, Susan L, Nevanlinna, Heli, Olson, Janet E, Olswold, Curtis, Oosterwijk, Jan J C, Osorio, Ana, Peterlongo, Paolo, Peto, Julian, Pharoah, Paul D P, Pylkäs, Katri, Radice, Paolo, Rashid, Muhammad Usman, Rhenius, Valerie, Rudolph, Anja, Sangrajrang, Suleeporn, Sawyer, Elinor J, Schmidt, Marjanka K, Schoemaker, Minouk J, Seynaeve, Caroline, Shah, Mitul, Shen, Chen-Yang, Shrubsole, Martha

“…Breast cancer risks conferred by many germline missense variants in the and genes, often referred to as variants of uncertain significance (VUS), have not been…”
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A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population by Healey, Sue, Loud, Jennifer T, dos Santos Silva, Isabel, Hakonarson, Hakon, Garber, Judy, Blank, Stephanie V, Huzarski, Tomasz, Godwin, Andrew K, Spurdle, Amanda B, Soucy, Penny, Izatt, Louise, Southey, Melissa, Blum, Joanne L, Cox, Angela, Buys, Saundra S, Fasching, Peter A, Laitman, Yael, Rantala, Johanna, Peto, Julian, Montagna, Marco, Flesch-Janys, Dieter, Offit, Kenneth, Peock, Susan, Manoukian, Siranoush, Neuhausen, Susan L, Weitzel, Jeffrey, Wappenschmidt, Barbara, Sutter, Christian, Osorio, Ana, Rookus, Matti A, Terry, Mary-Beth, Friedman, Eitan, Ghoussaini, Maya, Martin, Nicholas G, Giraud, Sophie, Devilee, Peter, Gayther, Simon A, Engel, Christoph, Tung, Nadine, Singer, Christian F, Simard, Jacques, Byrski, Tomasz, Peterlongo, Paolo, Cook, Margaret, Bonanni, Bernardo, Goldgar, David E, Frost, Debra, Easton, Douglas F, Hoogerbrugge, Nicoline, Meindl, Alfons, Diasio, Robert B, Sinilnikova, Olga M, Kartsonaki, Christiana, Antoniou, Antonis C, Stoppa-Lyonnet, Dominique, Rodriguez, Gustavo C, Nathanson, Katherine L, Gaudet, Mia M, Cross, Simon S, Cybulski, Cezary, Winqvist, Robert, Fountzilas, George, van den Ouweland, Ans, Hansen, Thomas V O, Beattie, Mary S, Nielsen, Finn C, Douglas, Fiona, Caldes, Trinidad, Hopper, John L, Hogervorst, Frans B L, Oliver, Clare, Gerty, Sue M, Yannoukakos, Drakoulis, Lambrechts, Diether, Caron, Olivier, Lee, Adam M, Hardouin, Agnès, Vachon, Celine, Chenevix-Trench, Georgia, Holland, Helene, Blanco, Ignacio, Beckmann, Matthias W, Paridaens, Robert, Barrowdale, Daniel, Piedmonte, Marion, Couch, Fergus J, Lasset, Christine, Górski, Bohdan, Domchek, Susan M, Loman, Niklas, Nevanlinna, Heli, Rebbeck, Timothy, Thomassen, Mads, Narod, Stephen, Eccles, Diana, Benitez, Javier, Arason, Adalgeir, Basil, Jack, Lazaro, Conxi, Phelan, Catherine

“…Germline BRCA1 mutations predispose to breast cancer. To identify genetic modifiers of this risk, we performed a genome-wide association study in 1,193…”
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BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk by Spurdle, Amanda B, Whiley, Phillip J, Thompson, Bryony, Feng, Bingjian, Healey, Sue, Brown, Melissa A, Pettigrew, Christopher, Van Asperen, Christi J, Ausems, Margreet G E M, Kattentidt-Mouravieva, Anna A, van den Ouweland, Ans M W, Lindblom, Annika, Pigg, Maritta H, Schmutzler, Rita K, Engel, Christoph, Meindl, Alfons, Caputo, Sandrine, Sinilnikova, Olga M, Lidereau, Rosette, Couch, Fergus J, Guidugli, Lucia, Hansen, Thomas van Overeem, Thomassen, Mads, Eccles, Diana M, Tucker, Kathy, Benitez, Javier, Domchek, Susan M, Toland, Amanda E, Van Rensburg, Elizabeth J, Wappenschmidt, Barbara, Borg, Åke, Vreeswijk, Maaike P G, Goldgar, David E

“…Clinical classification of rare sequence changes identified in the breast cancer susceptibility genes BRCA1 and BRCA2 is essential for appropriate genetic…”
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