Editor's choice

Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles

Vito Terlizzi, Giuseppe Castaldo, Donatello Salvatore, Marco Lucarelli, Valeria Raia, Adriano Angioni, Vincenzo Carnovale, Natalia Cirilli, Rosaria Casciaro, Carla Colombo, Antonella Miriam Di Lullo, Ausilia Elce, Paola Iacotucci, Marika Comegna, Manuela Scorza, Vincenzina Lucidi, Anna Perfetti, Roberta Cimino, Serena Quattrucci, Manuela Seia, Valentina Maria Sofia, Federica Zarrilli, Felice Amato

10.1136/jmedgenet-2016-103985

October 13, 2016

PALB2_, _CHEK2 and ATM rare variants and cancer risk: data from COGS

Melissa C Southey, David E Goldgar, Robert Winqvist, Katri Pylkäs, Fergus Couch, Marc Tischkowitz, William D Foulkes, Joe Dennis, Kyriaki Michailidou, Elizabeth J van Rensburg, Tuomas Heikkinen, Heli Nevanlinna, John L Hopper, Thilo Dörk, Kathleen BM Claes, Jorge Reis-Filho, Zhi Ling Teo, Paolo Radice, Irene Catucci, Paolo Peterlongo, Helen Tsimiklis, Fabrice A Odefrey, James G Dowty, Marjanka K Schmidt, Annegien Broeks, Frans B Hogervorst, Senno Verhoef, Jane Carpenter, Christine Clarke, Rodney J Scott, Peter A Fasching, Lothar Haeberle, Arif B Ekici, Matthias W Beckmann, Julian Peto, Isabel dos-Santos-Silva, Olivia Fletcher, Nichola Johnson, Manjeet K Bolla, Elinor J Sawyer, Ian Tomlinson, Michael J Kerin, Nicola Miller, Federik Marme, Barbara Burwinkel, Rongxi Yang, Pascal Guénel, Thérèse Truong, Florence Menegaux, Marie Sanchez, Stig Bojesen, Sune F Nielsen, Henrik Flyger, Javier Benitez, M Pilar Zamora, Jose Ignacio Arias Perez, Primitiva Menéndez, Hoda Anton-Culver, Susan Neuhausen, Argyrios Ziogas, Christina A Clarke, Hermann Brenner, Volker Arndt, Christa Stegmaier, Hiltrud Brauch, Thomas Brüning, Yon-Dschun Ko, Taru A Muranen, Kristiina Aittomäki, Carl Blomqvist, Natalia V Bogdanova, Natalia N Antonenkova, Annika Lindblom, Sara Margolin, Arto Mannermaa, Vesa Kataja, Veli-Matti Kosma, Jaana M Hartikainen, Amanda B Spurdle, kConFab Investigators, Australian Ovarian Cancer Study Group, Els Wauters, Dominiek Smeets, Benoit Beuselinck, Giuseppe Floris, Jenny Chang-Claude, Anja Rudolph, Petra Seibold, Dieter Flesch-Janys, Janet E Olson, Celine Vachon, Vernon S Pankratz, Catriona McLean, Christopher A Haiman, Brian E Henderson, Fredrick Schumacher, Loic Le Marchand, Vessela Kristensen, Grethe Grenaker Alnæs, Wei Zheng, David J Hunter, Sara Lindstrom, Susan E Hankinson, Peter Kraft, Irene Andrulis, Julia A Knight, Gord Glendon, Anna Marie Mulligan, Arja Jukkola-Vuorinen, Mervi Grip, Saila Kauppila, Peter Devilee, Robert A E M Tollenaar, Caroline Seynaeve, Antoinette Hollestelle, Montserrat Garcia-Closas, Jonine Figueroa, Stephen J Chanock, Jolanta Lissowska, Kamila Czene, Hatef Darabi, Mikael Eriksson, Diana M Eccles, Sajjad Rafiq, William J Tapper, Sue M Gerty, Maartje J Hooning, John W M Martens, J Margriet Collée, Madeleine Tilanus-Linthorst, Per Hall, Jingmei Li, Judith S Brand, Keith Humphreys, Angela Cox, Malcolm W R Reed, Craig Luccarini, Caroline Baynes, Alison M Dunning, Ute Hamann, Diana Torres, Hans Ulrich Ulmer, Thomas Rüdiger, Anna Jakubowska, Jan Lubinski, Katarzyna Jaworska, Katarzyna Durda, Susan Slager, Amanda E Toland, Christine B Ambrosone, Drakoulis Yannoukakos, Anthony Swerdlow, Alan Ashworth, Nick Orr, Michael Jones, Anna González-Neira, Guillermo Pita, M Rosario Alonso, Nuria Álvarez, Daniel Herrero, Daniel C Tessier, Daniel Vincent, Francois Bacot, Jacques Simard, Martine Dumont, Penny Soucy, Rosalind Eeles, Kenneth Muir, Fredrik Wiklund, Henrik Gronberg, Johanna Schleutker, Børge G Nordestgaard, Maren Weischer, Ruth C Travis, David Neal, Jenny L Donovan, Freddie C Hamdy, Kay-Tee Khaw, Janet L Stanford, William J Blot, Stephen Thibodeau, Daniel J Schaid, Joseph L Kelley, Christiane Maier, Adam S Kibel, Cezary Cybulski, Lisa Cannon-Albright, Katja Butterbach, Jong Park, Radka Kaneva, Jyotsna Batra, Manuel R Teixeira, Zsofia Kote-Jarai, Ali Amin Al Olama, Sara Benlloch, Stefan P Renner, Arndt Hartmann, Alexander Hein, Matthias Ruebner, Diether Lambrechts, Els Van Nieuwenhuysen, Ignace Vergote, Sandrina Lambretchs, Jennifer A Doherty, Mary Anne Rossing, Stefan Nickels, Ursula Eilber, Shan Wang-Gohrke, Kunle Odunsi, Lara E Sucheston-Campbell, Grace Friel, Galina Lurie, Jeffrey L Killeen, Lynne R Wilkens, Marc T Goodman, Ingo Runnebaum, Peter A Hillemanns, Liisa M Pelttari, Ralf Butzow, Francesmary Modugno, Robert P Edwards, Roberta B Ness, Kirsten B Moysich, Andreas du Bois, Florian Heitz, Philipp Harter, Stefan Kommoss, Beth Y Karlan, Christine Walsh, Jenny Lester, Allan Jensen, Susanne Krüger Kjaer, Estrid Høgdall, Bernard Peissel, Bernardo Bonanni, Loris Bernard, Ellen L Goode, Brooke L Fridley, Robert A Vierkant, Julie M Cunningham, Melissa C Larson, Zachary C Fogarty, Kimberly R Kalli, Dong Liang, Karen H Lu, Michelle A T Hildebrandt, Xifeng Wu, Douglas A Levine, Fanny Dao, Maria Bisogna, Andrew Berchuck, Edwin S Iversen, Jeffrey R Marks, Lucy Akushevich, Daniel W Cramer, Joellen Schildkraut, Kathryn L Terry, Elizabeth M Poole, Meir Stampfer, Shelley S Tworoger, Elisa V Bandera, Irene Orlow, Sara H Olson, Line Bjorge, Helga B Salvesen, Anne M van Altena, Katja K H Aben, Lambertus A Kiemeney, Leon F A G Massuger, Tanja Pejovic, Yukie Bean, Angela Brooks-Wilson, Linda E Kelemen, Linda S Cook, Nhu D Le, Bohdan Górski, Jacek Gronwald, Janusz Menkiszak, Claus K Høgdall, Lene Lundvall, Lotte Nedergaard, Svend Aage Engelholm, Ed Dicks, Jonathan Tyrer, Ian Campbell, Iain McNeish, James Paul, Nadeem Siddiqui, Rosalind Glasspool, Alice S Whittemore, Joseph H Rothstein, Valerie McGuire, Weiva Sieh, Hui Cai, Xiao-Ou Shu, Rachel T Teten, Rebecca Sutphen, John R McLaughlin, Steven A Narod, Catherine M Phelan, Alvaro N Monteiro, David Fenstermacher, Hui-Yi Lin, Jennifer B Permuth, Thomas A Sellers, Y Ann Chen, Ya-Yu Tsai, Zhihua Chen, Aleksandra Gentry-Maharaj, Simon A Gayther, Susan J Ramus, Usha Menon, Anna H Wu, Celeste L Pearce, David Van Den Berg, Malcolm C Pike, Agnieszka Dansonka-Mieszkowska, Joanna Plisiecka-Halasa, Joanna Moes-Sosnowska, Jolanta Kupryjanczyk, Paul DP Pharoah, Honglin Song, Ingrid Winship, Georgia Chenevix-Trench, Graham G Giles, Sean V Tavtigian, Doug F Easton, Roger L Milne

10.1136/jmedgenet-2016-103839

September 5, 2016

PALB2_, _CHEK2 and ATM rare variants and cancer risk: data from COGS

Melissa C Southey, David E Goldgar, Robert Winqvist, Katri Pylkäs, Fergus Couch, Marc Tischkowitz, William D Foulkes, Joe Dennis, Kyriaki Michailidou, Elizabeth J van Rensburg, Tuomas Heikkinen, Heli Nevanlinna, John L Hopper, Thilo Dörk, Kathleen BM Claes, Jorge Reis-Filho, Zhi Ling Teo, Paolo Radice, Irene Catucci, Paolo Peterlongo, Helen Tsimiklis, Fabrice A Odefrey, James G Dowty, Marjanka K Schmidt, Annegien Broeks, Frans B Hogervorst, Senno Verhoef, Jane Carpenter, Christine Clarke, Rodney J Scott, Peter A Fasching, Lothar Haeberle, Arif B Ekici, Matthias W Beckmann, Julian Peto, Isabel dos-Santos-Silva, Olivia Fletcher, Nichola Johnson, Manjeet K Bolla, Elinor J Sawyer, Ian Tomlinson, Michael J Kerin, Nicola Miller, Federik Marme, Barbara Burwinkel, Rongxi Yang, Pascal Guénel, Thérèse Truong, Florence Menegaux, Marie Sanchez, Stig Bojesen, Sune F Nielsen, Henrik Flyger, Javier Benitez, M Pilar Zamora, Jose Ignacio Arias Perez, Primitiva Menéndez, Hoda Anton-Culver, Susan Neuhausen, Argyrios Ziogas, Christina A Clarke, Hermann Brenner, Volker Arndt, Christa Stegmaier, Hiltrud Brauch, Thomas Brüning, Yon-Dschun Ko, Taru A Muranen, Kristiina Aittomäki, Carl Blomqvist, Natalia V Bogdanova, Natalia N Antonenkova, Annika Lindblom, Sara Margolin, Arto Mannermaa, Vesa Kataja, Veli-Matti Kosma, Jaana M Hartikainen, Amanda B Spurdle, kConFab Investigators, Australian Ovarian Cancer Study Group, Els Wauters, Dominiek Smeets, Benoit Beuselinck, Giuseppe Floris, Jenny Chang-Claude, Anja Rudolph, Petra Seibold, Dieter Flesch-Janys, Janet E Olson, Celine Vachon, Vernon S Pankratz, Catriona McLean, Christopher A Haiman, Brian E Henderson, Fredrick Schumacher, Loic Le Marchand, Vessela Kristensen, Grethe Grenaker Alnæs, Wei Zheng, David J Hunter, Sara Lindstrom, Susan E Hankinson, Peter Kraft, Irene Andrulis, Julia A Knight, Gord Glendon, Anna Marie Mulligan, Arja Jukkola-Vuorinen, Mervi Grip, Saila Kauppila, Peter Devilee, Robert A E M Tollenaar, Caroline Seynaeve, Antoinette Hollestelle, Montserrat Garcia-Closas, Jonine Figueroa, Stephen J Chanock, Jolanta Lissowska, Kamila Czene, Hatef Darabi, Mikael Eriksson, Diana M Eccles, Sajjad Rafiq, William J Tapper, Sue M Gerty, Maartje J Hooning, John W M Martens, J Margriet Collée, Madeleine Tilanus-Linthorst, Per Hall, Jingmei Li, Judith S Brand, Keith Humphreys, Angela Cox, Malcolm W R Reed, Craig Luccarini, Caroline Baynes, Alison M Dunning, Ute Hamann, Diana Torres, Hans Ulrich Ulmer, Thomas Rüdiger, Anna Jakubowska, Jan Lubinski, Katarzyna Jaworska, Katarzyna Durda, Susan Slager, Amanda E Toland, Christine B Ambrosone, Drakoulis Yannoukakos, Anthony Swerdlow, Alan Ashworth, Nick Orr, Michael Jones, Anna González-Neira, Guillermo Pita, M Rosario Alonso, Nuria Álvarez, Daniel Herrero, Daniel C Tessier, Daniel Vincent, Francois Bacot, Jacques Simard, Martine Dumont, Penny Soucy, Rosalind Eeles, Kenneth Muir, Fredrik Wiklund, Henrik Gronberg, Johanna Schleutker, Børge G Nordestgaard, Maren Weischer, Ruth C Travis, David Neal, Jenny L Donovan, Freddie C Hamdy, Kay-Tee Khaw, Janet L Stanford, William J Blot, Stephen Thibodeau, Daniel J Schaid, Joseph L Kelley, Christiane Maier, Adam S Kibel, Cezary Cybulski, Lisa Cannon-Albright, Katja Butterbach, Jong Park, Radka Kaneva, Jyotsna Batra, Manuel R Teixeira, Zsofia Kote-Jarai, Ali Amin Al Olama, Sara Benlloch, Stefan P Renner, Arndt Hartmann, Alexander Hein, Matthias Ruebner, Diether Lambrechts, Els Van Nieuwenhuysen, Ignace Vergote, Sandrina Lambretchs, Jennifer A Doherty, Mary Anne Rossing, Stefan Nickels, Ursula Eilber, Shan Wang-Gohrke, Kunle Odunsi, Lara E Sucheston-Campbell, Grace Friel, Galina Lurie, Jeffrey L Killeen, Lynne R Wilkens, Marc T Goodman, Ingo Runnebaum, Peter A Hillemanns, Liisa M Pelttari, Ralf Butzow, Francesmary Modugno, Robert P Edwards, Roberta B Ness, Kirsten B Moysich, Andreas du Bois, Florian Heitz, Philipp Harter, Stefan Kommoss, Beth Y Karlan, Christine Walsh, Jenny Lester, Allan Jensen, Susanne Krüger Kjaer, Estrid Høgdall, Bernard Peissel, Bernardo Bonanni, Loris Bernard, Ellen L Goode, Brooke L Fridley, Robert A Vierkant, Julie M Cunningham, Melissa C Larson, Zachary C Fogarty, Kimberly R Kalli, Dong Liang, Karen H Lu, Michelle A T Hildebrandt, Xifeng Wu, Douglas A Levine, Fanny Dao, Maria Bisogna, Andrew Berchuck, Edwin S Iversen, Jeffrey R Marks, Lucy Akushevich, Daniel W Cramer, Joellen Schildkraut, Kathryn L Terry, Elizabeth M Poole, Meir Stampfer, Shelley S Tworoger, Elisa V Bandera, Irene Orlow, Sara H Olson, Line Bjorge, Helga B Salvesen, Anne M van Altena, Katja K H Aben, Lambertus A Kiemeney, Leon F A G Massuger, Tanja Pejovic, Yukie Bean, Angela Brooks-Wilson, Linda E Kelemen, Linda S Cook, Nhu D Le, Bohdan Górski, Jacek Gronwald, Janusz Menkiszak, Claus K Høgdall, Lene Lundvall, Lotte Nedergaard, Svend Aage Engelholm, Ed Dicks, Jonathan Tyrer, Ian Campbell, Iain McNeish, James Paul, Nadeem Siddiqui, Rosalind Glasspool, Alice S Whittemore, Joseph H Rothstein, Valerie McGuire, Weiva Sieh, Hui Cai, Xiao-Ou Shu, Rachel T Teten, Rebecca Sutphen, John R McLaughlin, Steven A Narod, Catherine M Phelan, Alvaro N Monteiro, David Fenstermacher, Hui-Yi Lin, Jennifer B Permuth, Thomas A Sellers, Y Ann Chen, Ya-Yu Tsai, Zhihua Chen, Aleksandra Gentry-Maharaj, Simon A Gayther, Susan J Ramus, Usha Menon, Anna H Wu, Celeste L Pearce, David Van Den Berg, Malcolm C Pike, Agnieszka Dansonka-Mieszkowska, Joanna Plisiecka-Halasa, Joanna Moes-Sosnowska, Jolanta Kupryjanczyk, Paul DP Pharoah, Honglin Song, Ingrid Winship, Georgia Chenevix-Trench, Graham G Giles, Sean V Tavtigian, Doug F Easton, Roger L Milne

10.1136/jmedgenet-2016-103839

September 5, 2016