A new bioinformatics tool to help assess the significance of BRCA1 variants
Cusin, Isabelle, Teixeira, Daniel, Zahn-Zabal, Monique, Rech de Laval, Valentine, Gleizes, Anne, Viassolo, Valeria, Chappuis, Pierre O, Hutter, Pierre, Bairoch, Amos, Gaudet, Pascale
Published in Human genomics (11.07.2018)
Published in Human genomics (11.07.2018)
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Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes MSH2, MLH1, MSH6, and PMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC)
van der Klift, Heleen, Wijnen, Juul, Wagner, Anja, Verkuilen, Paul, Tops, Carli, Otway, Robyn, Kohonen-Corish, Maija, Vasen, Hans, Oliani, Cristina, Barana, Daniela, Moller, Pal, DeLozier-Blanchet, Celia, Hutter, Pierre, Foulkes, William, Lynch, Henry, Burn, John, Möslein, Gabriela, Fodde, Riccardo
Published in Genes chromosomes & cancer (01.10.2005)
Published in Genes chromosomes & cancer (01.10.2005)
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Distinct patterns of germ-line deletions inMLH1 andMSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC)
Li, Lili, McVety, Susan, Younan, Rami, Liang, Ping, Du Sart, Desirée, Gordon, Philip H., Hutter, Pierre, Hogervorst, Frans B.L., Chong, George, Foulkes, William D.
Published in Human mutation (01.04.2006)
Published in Human mutation (01.04.2006)
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Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells
Rossiter, J P, Young, M, Kimberland, M L, Hutter, P, Ketterling, R P, Gitschier, J, Horst, J, Morris, M A, Schaid, D J, de Moerloose, P
Published in Human molecular genetics (01.07.1994)
Published in Human molecular genetics (01.07.1994)
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The murine orthologue of the Golgi-localized TPTE protein provides clues to the evolutionary history of the human TPTE gene family
GUIPPONI, Michel, TAPPAREL, Caroline, ANTONARAKIS, Stylianos E, JOUSSON, Olivier, SCAMUFFA, Nathalie, MAS, Christophe, ROSSIER, Colette, HUTTER, Pierre, MEDA, Paolo, LYLE, Robert, REYMOND, Alexandre
Published in Human genetics (01.12.2001)
Published in Human genetics (01.12.2001)
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Age-Dependent Cancer Risk Is Not Different in between MSH2 and MLH1 Mutation Carriers
Olschwang, Sylviane, Yu, Kai, Lasset, Christine, Baert-Desurmont, Stéphanie, Buisine, Marie-Pierre, Wang, Qing, Hutter, Pierre, Rouleau, Etienne, Caron, Olivier, Bourdon, Violaine, Thomas, Gilles
Published in Journal of Cancer Epidemiology (01.01.2009)
Published in Journal of Cancer Epidemiology (01.01.2009)
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Identification of seven new prostate cancer susceptibility loci through a genome-wide association study
Shahabi, Ahva, John, Esther M, Lose, Felicity, Lange, Ethan M, Farnham, Jim, Chambers, Suzanne, Southey, Melissa C, Lewis, Sarah J, Huddart, Robert A, Donovan, Jenny L, Rebbeck, Timothy R, Corral, Roman, Al Olama, Ali Amin, Thompson, Alan, Woodhouse, Christopher J, Liu, Jo-Fen, Kote-Jarai, Zsofia, Lu, Yong-Jie, FitzGerald, Liesel M, Wilkinson, Rosemary A, Le Marchand, Loic, Karyadi, Danielle M, Guy, Michelle, Cannon-Albright, Lisa, Stefflova, Klara, Cao, Guangwen, Thibodeau, Stephen N, Stanford, Janet L, Schaid, Daniel, Sawyer, Emma J, Koopmeiners, Joseph S, Meyer, Andreas, Zeegers, Maurice, Auvinen, Anssi, Neal, David E, Saunders, Edward J, Kaneva, Radka, Kolonel, Laurence N, Schleutker, Johanna, Cooney, Kathleen A, Vogel, Walther, Dörk, Thilo, Kedda, Mary Anne, Pow-Sang, Julio, Hutter, Pierre, Van As, Nicholas, Serth, Jürgen, Leongamornlert, Daniel A, Edwards, Stephen M, Tammela, Teuvo L, Eeles, Rosalind A, Haiman, Christopher A, Clements, Judith, Severi, Gianluca, Horwich, Alan, Parker, Christopher C, Hopper, John L, Polanowski, Andrea, Zhang, Hong-Wei, Foulkes, William D, Ray, Anna M, Hamdy, Freddie C, Christmas, Tim, Page, Elizabeth C, Park, Jong Y, Maier, Christiane, Cox, Angela, Ardern-Jones, Audrey T, Ogden, Chris, Tymrakiewicz, Malgorzata, Giles, Graham G, English, Dallas R, Patterson, Briony, Spurdle, Amanda, Lophatananon, Artitaya, Khan, Humera, Easton, Douglas F, Ingles, Sue A, Cooper, Colin S, Aitken, Joanne, Slavov, Chavdar, Gardiner, R A (Frank), Dearnaley, David P, Ostrander, Elaine A, Hall, Amanda L, Mitkova, Atanaska, Wahlfors, Tiina, Luedeke, Manuel, Henderson, Brian E, Khoo, Vincent S, Dickinson, Joanne L, Kwon, Erika M, Chappuis, Pierre O, Muir, Kenneth, Sellers, Thomas A, Morrison, Jonathan, McDonnell, Shannon K, O'Brien, Lynne T, Stern, Mariana C, Batra, Jyotsna
Published in Nature genetics (01.10.2009)
Published in Nature genetics (01.10.2009)
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Cancer Prevention with Resistant Starch in Lynch Syndrome Patients in the CAPP2-Randomized Placebo Controlled Trial: Planned 10-Year Follow-up
Mathers, John C, Elliott, Faye, Macrae, Finlay, Mecklin, Jukka-Pekka, Möslein, Gabriela, McRonald, Fiona E, Bertario, Lucio, Evans, D Gareth, Gerdes, Anne-Marie, Ho, Judy W C, Lindblom, Annika, Morrison, Patrick J, Rashbass, Jem, Ramesar, Raj S, Seppälä, Toni T, Thomas, Huw J W, Sheth, Harsh J, Pylvänäinen, Kirsi, Reed, Lynn, Borthwick, Gillian M, Bishop, D Timothy, Burn, John
Published in Cancer prevention research (Philadelphia, Pa.) (01.09.2022)
Published in Cancer prevention research (Philadelphia, Pa.) (01.09.2022)
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Journal Article
Risk Analysis of Prostate Cancer in PRACTICAL, a Multinational Consortium, Using 25 Known Prostate Cancer Susceptibility Loci
Amin Al Olama, Ali, Benlloch, Sara, Antoniou, Antonis C, Giles, Graham G, Severi, Gianluca, Neal, David E, Hamdy, Freddie C, Donovan, Jenny L, Muir, Kenneth, Schleutker, Johanna, Henderson, Brian E, Haiman, Christopher A, Schumacher, Fredrick R, Pashayan, Nora, Pharoah, Paul D P, Ostrander, Elaine A, Stanford, Janet L, Batra, Jyotsna, Clements, Judith A, Chambers, Suzanne K, Weischer, Maren, Nordestgaard, Børge G, Ingles, Sue A, Sorensen, Karina D, Orntoft, Torben F, Park, Jong Y, Cybulski, Cezary, Maier, Christiane, Doerk, Thilo, Dickinson, Joanne L, Cannon-Albright, Lisa, Brenner, Hermann, Rebbeck, Timothy R, Zeigler-Johnson, Charnita, Habuchi, Tomonori, Thibodeau, Stephen N, Cooney, Kathleen A, Chappuis, Pierre O, Hutter, Pierre, Kaneva, Radka P, Foulkes, William D, Zeegers, Maurice P, Lu, Yong-Jie, Zhang, Hong-Wei, Stephenson, Robert, Cox, Angela, Southey, Melissa C, Spurdle, Amanda B, FitzGerald, Liesel, Leongamornlert, Daniel, Saunders, Edward, Tymrakiewicz, Malgorzata, Guy, Michelle, Dadaev, Tokhir, Little, Sarah J, Govindasami, Koveela, Sawyer, Emma, Wilkinson, Rosemary, Herkommer, Kathleen, Hopper, John L, Lophatonanon, Aritaya, Rinckleb, Antje E, Kote-Jarai, Zsofia, Eeles, Rosalind A, Easton, Douglas F
Published in Cancer epidemiology, biomarkers & prevention (01.07.2015)
Published in Cancer epidemiology, biomarkers & prevention (01.07.2015)
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Rapidly Evolving Rab GTPase Paralogs and Reproductive Isolation in Drosophila
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Book Chapter
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Recurrence and variability of germline EPCAM deletions in Lynch syndrome
Kuiper, Roland P., Vissers, Lisenka E.L.M., Venkatachalam, Ramprasath, Bodmer, Danielle, Hoenselaar, Eveline, Goossens, Monique, Haufe, Aline, Kamping, Eveline, Niessen, Renée C., Hogervorst, Frans B.L., Gille, Johan J.P., Redeker, Bert, Tops, Carli M.J., van Gijn, Marielle E., van den Ouweland, Ans M.W., Rahner, Nils, Steinke, Verena, Kahl, Philip, Holinski-Feder, Elke, Morak, Monika, Kloor, Matthias, Stemmler, Susanne, Betz, Beate, Hutter, Pierre, Bunyan, David J., Syngal, Sapna, Culver, Julie O., Graham, Tracy, Chan, Tsun L., Nagtegaal, Iris D., van Krieken, J. Han J.M, Schackert, Hans K., Hoogerbrugge, Nicoline, van Kessel, Ad Geurts, Ligtenberg, Marjolijn J.L.
Published in Human mutation (01.04.2011)
Published in Human mutation (01.04.2011)
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Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) - update 2012
Rahner, Nils, Steinke, Verena, Schlegelberger, Brigitte, Eisinger, Francois, Hutter, Pierre, Olschwang, Sylviane
Published in European journal of human genetics : EJHG (01.01.2013)
Published in European journal of human genetics : EJHG (01.01.2013)
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The educational role of external quality assessment in genetic testing: a 7-year experience of the European Molecular Genetics Quality Network (EMQN) in Lynch syndrome
Qiu, JingHua, Hutter, Pierre, Rahner, Nils, Patton, Simon, Olschwang, Sylviane
Published in Human mutation (01.06.2011)
Published in Human mutation (01.06.2011)
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Journal Article
Multiple Novel Prostate Cancer Predisposition Loci Confirmed by an International Study: The PRACTICAL Consortium
KOTE-JARAI, Zsofia, EASTON, Douglas F, COX, Angela, MAIER, Christiane, VOGEL, Walter, GUY, Michelle, MUIR, Kenneth, LOPHATANANON, Artitaya, KEDDA, Mary-Anne, SPURDLE, Amanda, STEGINGA, Suzanne, JOHN, Esther M, STANFORD, Janet L, GILES, Graham, HOPPER, John, CHAPPUIS, Pierre O, HUTTER, Pierre, FOULKES, William D, HAMEL, Nancy, SALINAS, Claudia A, KOOPMEINERS, Joseph S, KARYADI, Danielle M, JOHANNESON, Bo, OSTRANDER, Elaine A, WAHLFORS, Tiina, TAMMELA, Teuvo L, STEM, Mariana C, CORRAL, Roman, MCDONNELL, Shannon K, SCHÜRMANN, Peter, MEYER, Andreas, KUEFER, Rainer, LEONGAMORNLERT, Daniel A, TYMRAKIEWICZ, Malgorzata, SCHLEUTKER, Johanna, LIU, Jo-Fen, O'MARA, Tracy, GARDINER, R. A, AITKEN, Joanne, JOSHI, Amit D, SEVERI, Gianluca, ENGLISH, Dallas R, SOUTHEY, Melissa, EDWARDS, Stephen M, AL OLAMA, Ali Amin, INGLES, Sue A, EELES, Rosalind A, SCHAID, Daniel, THIBODEAU, Stephen, DÖRK, Thilo, NEAL, David
Published in Cancer epidemiology, biomarkers & prevention (01.08.2008)
Published in Cancer epidemiology, biomarkers & prevention (01.08.2008)
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Journal Article
High-Resolution Breakpoint Analysis Provides Evidence for the Sequence-Directed Nature of Genome Rearrangements in Hereditary Disorders
Kovac, Michal B., Kovacova, Monika, Bachraty, Hynek, Bachrata, Katarina, Piscuoglio, Salvatore, Hutter, Pierre, Ilencikova, Denisa, Bartosova, Zdena, Tomlinson, Ian, Roethlisberger, Benno, Heinimann, Karl
Published in Human mutation (01.02.2015)
Published in Human mutation (01.02.2015)
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Journal Article
Clinical utility gene card for: Lynch syndrome ( , , , )
Rahner, Nils, Steinke, Verena, Schlegelberger, Brigitte, Olschwang, Sylviane, Eisinger, François, Hutter, Pierre
Published in European journal of human genetics : EJHG (01.09.2010)
Published in European journal of human genetics : EJHG (01.09.2010)
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Journal Article
Prevalence of MYH germline mutations in Swiss APC mutation‐negative polyposis patients
Russell, Anna M., Zhang, Jian, Luz, Judith, Hutter, Pierre, Chappuis, Pierre O., Berthod, Claudine Rey, Maillet, Philippe, Mueller, Hansjakob, Heinimann, Karl
Published in International journal of cancer (15.04.2006)
Published in International journal of cancer (15.04.2006)
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Journal Article
The TPTE gene family: cellular expression, subcellular localization and alternative splicing
Tapparel, Caroline, Reymond, Alexandre, Girardet, Christophe, Guillou, Louis, Lyle, Robert, Lamon, Christine, Hutter, Pierre, Antonarakis, Stylianos E.
Published in Gene (24.12.2003)
Published in Gene (24.12.2003)
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Journal Article
Distinct patterns of germ-line deletions in MLH1 and MSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC)
Li, Lili, McVety, Susan, Younan, Rami, Liang, Ping, Du Sart, Desirée, Gordon, Philip H., Hutter, Pierre, Hogervorst, Frans B.L., Chong, George, Foulkes, William D.
Published in Human mutation (01.04.2006)
Published in Human mutation (01.04.2006)
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