Clinical, splicing and functional analysis to classify BRCA2 exon 3 variants: application of a points-based ACMG/AMP approach.
Thomassen, Mads; Mesman, Romy L S; Hansen, Thomas V O; Menendez, Mireia; Rossing, Maria; Esteban-Sánchez, Ada; Tudini, Emma; Törngren, Therese; Parsons, Michael T; Pedersen, Inge Sokilde; Teo, Soo Hwang; Kruse, Torben A; Møller, Pål; Borg, Åke; Jensen, Uffe Birk; Christensen, Lise Lotte; Singer, Christian F; Muhr, Daniela; Santamarina, Marta; Brandao, Rita; Andresen, Brage S; Feng, Bing-Jian; Canson, Daffodil; Richardson, Marcy E; Karam, Rachid; Pesaran, Tina; LaDuca, Holly; Conner, Blair R; Abualkheir, Nelly; Hoang, Lily; Calléja, Fabienne M G R; Andrews, Lesley; James, Paul A; Bunyan, Dave; Hamblett, Amanda; Radice, Paolo; Goldgar, David E; Walker, Logan C; Engel, Christoph; Claes, Kathleen B M; Machácková, Eva; Baralle, Diana; Viel, Alessandra; Wappenschmidt, Barbara; Lazaro, Conxi; Vega, Ana; Consortium, Enigma; Vreeswijk, Maaike P G; de la Hoya, Miguel; Spurdle, Amanda B
HUMAN MUTATION - 1/01/2022
Coffee consumption and risk of endometrial cancer: a pooled analysis of individual participant data in the Epidemiology of Endometrial Cancer Consortium (E2C2)
Crous-Bou, Marta; Du, Mengmeng; Gunter, Marc J.; Setiawan, Veronica W.; Schouten, Leo J.; Shu, Xiao-ou; Wentzensen, Nicolas; Bertrand, Kimberly A.; Cook, Linda S.; Friedenreich, Christine M.; Gapstur, Susan M.; Goodman, Marc T.; Ibiebele, Torukiri I.; La Vecchia, Carlo; Levi, Fabio; Liao, Linda M.; Negri, Eva; McCann, Susan E.; O'Connell, Kelly; Palmer, Julie R.; Patel, Alpa, V; Ponte, Jeanette; Reynolds, Peggy; Sacerdote, Carlotta; Sinha, Rashmi; Spurdle, Amanda B.; Trabert, Britton; van den Brandt, Piet A.; Webb, Penelope M.; Petruzella, Stacey; Olson, Sara H.; De Vivo, Immaculata
AMERICAN JOURNAL OF CLINICAL NUTRITION - 1/01/2022
Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes.
, ; Mavaddat, Nasim; Dorling, Leila; Carvalho, Sara; Allen, Jamie; González-Neira, Anna; Keeman, Renske; Bolla, Manjeet K; Dennis, Joe; Wang, Qin; Ahearn, Thomas U; Andrulis, Irene L; Beckmann, Matthias W; Behrens, Sabine; Benitez, Javier; Bermisheva, Marina; Blomqvist, Carl; Bogdanova, Natalia V; Bojesen, Stig E; Briceno, Ignacio; Brüning, Thomas; Camp, Nicola J; Campbell, Archie; Castelao, Jose E; Chang-Claude, Jenny; Chanock, Stephen J; Chenevix-Trench, Georgia; Christiansen, Hans; Czene, Kamila; Dörk, Thilo; Eriksson, Mikael; Evans, D Gareth; Fasching, Peter A; Figueroa, Jonine D; Flyger, Henrik; Gabrielson, Marike; Gago-Dominguez, Manuela; Geisler, Jürgen; Giles, Graham G; Guénel, Pascal; Hadjisavvas, Andreas; Hahnen, Eric; Hall, Per; Hamann, Ute; Hartikainen, Jaana M; Hartman, Mikael; Hoppe, Reiner; Howell, Anthony; Jakubowska, Anna; Jung, Audrey; Khusnutdinova, Elza K; Kristensen, Vessela N; Li, Jingmei; Lim, Swee Ho; Lindblom, Annika; Loizidou, Maria A; Lophatananon, Artitaya; Lubinski, Jan; Madsen, Michael J; Mannermaa, Arto; Manoochehri, Mehdi; Margolin, Sara; Mavroudis, Dimitrios; Milne, Roger L; Mohd Taib, Nur Aishah; Morra, Anna; Muir, Kenneth; Obi, Nadia; Osorio, Ana; Park-Simon, Tjoung-Won; Peterlongo, Paolo; Radice, Paolo; Saloustros, Emmanouil; Sawyer, Elinor J; Schmutzler, Rita K; Shah, Mitul; Sim, Xueling; Southey, Melissa C; Thorne, Heather; Tomlinson, Ian; Torres, Diana; Truong, Thérèse; Yip, Cheng Har; Spurdle, Amanda B; Vreeswijk, Maaike P G; Dunning, Alison M; García-Closas, Montserrat; Pharoah, Paul D P; Kvist, Anders; Muranen, Taru A; Nevanlinna, Heli; Teo, Soo Hwang; Devilee, Peter; Schmidt, Marjanka K; Easton, Douglas F
JAMA ONCOLOGY - 1/01/2022
Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.
Momozawa, Yukihide; Sasai, Rumi; Usui, Yoshiaki; Shiraishi, Kouya; Iwasaki, Yusuke; Taniyama, Yukari; Parsons, Michael T; Mizukami, Keijiro; Sekine, Yuya; Hirata, Makoto; Kamatani, Yoichiro; Endo, Mikiko; Inai, Chihiro; Takata, Sadaaki; Ito, Hidemi; Kohno, Takashi; Matsuda, Koichi; Nakamura, Seigo; Sugano, Kokichi; Yoshida, Teruhiko; Nakagawa, Hidewaki; Matsuo, Keitaro; Murakami, Yoshinori; Spurdle, Amanda B; Kubo, Michiaki
JAMA ONCOLOGY - 1/01/2022
Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants.
Li, Shuai; Silvestri, Valentina; Leslie, Goska; Rebbeck, Timothy R; Neuhausen, Susan L; Hopper, John L; Nielsen, Henriette Roed; Lee, Andrew; Yang, Xin; McGuffog, Lesley; Parsons, Michael T; Andrulis, Irene L; Arnold, Norbert; Belotti, Muriel; Borg, Åke; Buecher, Bruno; Buys, Saundra S; Caputo, Sandrine M; Chung, Wendy K; Colas, Chrystelle; Colonna, Sarah V; Cook, Jackie; Daly, Mary B; de la Hoya, Miguel; de Pauw, Antoine; Delhomelle, Hélène; Eason, Jacqueline; Engel, Christoph; Evans, D Gareth; Faust, Ulrike; Fehm, Tanja N; Fostira, Florentia; Fountzilas, George; Frone, Megan; Garcia-Barberan, Vanesa; Garre, Pilar; Gauthier-Villars, Marion; Gehrig, Andrea; Glendon, Gord; Goldgar, David E; Golmard, Lisa; Greene, Mark H; Hahnen, Eric; Hamann, Ute; Hanson, Helen; Hassan, Tiara; Hentschel, Julia; Horvath, Judit; Izatt, Louise; Janavicius, Ramunas; Jiao, Yue; John, Esther M; Karlan, Beth Y; Kim, Sung-Won; Konstantopoulou, Irene; Kwong, Ava; Laugé, Anthony; Lee, Jong Won; Lesueur, Fabienne; Mebirouk, Noura; Meindl, Alfons; Mouret-Fourme, Emmanuelle; Musgrave, Hannah; Ngeow Yuen Yie, Joanne; Niederacher, Dieter; Park, Sue K; Pedersen, Inge Sokilde; Ramser, Juliane; Ramus, Susan J; Rantala, Johanna; Rashid, Muhammad U; Reichl, Florian; Ritter, Julia; Rump, Andreas; Santamariña, Marta; Saule, Claire; Schmidt, Gunnar; Schmutzler, Rita K; Senter, Leigha; Shariff, Saba; Singer, Christian F; Southey, Melissa C; Stoppa-Lyonnet, Dominique; Sutter, Christian; Tan, Yen; Teo, Soo Hwang; Terry, Mary Beth; Thomassen, Mads; Tischkowitz, Marc; Toland, Amanda E; Torres, Diana; Vega, Ana; Wagner, Sebastian A; Wang-Gohrke, Shan; Wappenschmidt, Barbara; Weber, Bernhard H F; Yannoukakos, Drakoulis; Spurdle, Amanda B; Easton, Douglas F; Chenevix-Trench, Georgia; Ottini, Laura; Antoniou, Antonis C
Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology - 1/01/2022
TRACEBACK: Testing of Historical Tubo-Ovarian Cancer Patients for Hereditary Risk Genes as a Cancer Prevention Strategy in Family Members.
Delahunty, Rachel; Nguyen, Linh; Craig, Stuart; Creighton, Belinda; Ariyaratne, Dinuka; Garsed, Dale W; Christie, Elizabeth; Fereday, Sian; Andrews, Lesley; Lewis, Alexandra; Limb, Sharne; Pandey, Ahwan; Hendley, Joy; Traficante, Nadia; Carvajal, Natalia; Spurdle, Amanda B; Thompson, Bryony; Parsons, Michael T; Beshay, Victoria; Volcheck, Mila; Semple, Timothy; Lupat, Richard; Doig, Kenneth; Yu, Jiaan; Chen, Xiao Qing; Marsh, Anna; Love, Christopher; Bilic, Sanela; Beilin, Maria; Nichols, Cassandra B; Greer, Christina; Lee, Yeh Chen; Gerty, Susan; Gill, Lynette; Newton, Emma; Howard, Julie; Williams, Rachel; Norris, Christie; Stephens, Andrew N; Tutty, Erin; Smyth, Courtney; O'Connell, Shona; Jobling, Thomas; Stewart, Colin J R; Tan, Adeline; Fox, Stephen B; Pachter, Nicholas; Li, Jason; Ellul, Jason; Mir Arnau, Gisela; Young, Mary-Anne; Gordon, Louisa; Forrest, Laura; Harris, Marion; Livingstone, Karen; Hill, Jane; Chenevix-Trench, Georgia; Cohen, Paul A; Webb, Penelope M; Friedlander, Michael; James, Paul; Bowtell, David; Alsop, Kathryn; ,
Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology - 1/01/2022
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing
Leman, Raphael; Parfait, Beatrice; Vidaud, Dominique; Girodon, Emmanuelle; Pacot, Laurence; Le Gac, Gerald; Ka, Chandran; Ferec, Claude; Fichou, Yann; Quesnelle, Celine; Aucouturier, Camille; Muller, Etienne; Vaur, Dominique; Castera, Laurent; Boulouard, Flavie; Ricou, Agathe; Tubeuf, Helene; Soukarieh, Omar; Gaildrat, Pascaline; Riant, Florence; Guillaud-Bataille, Marine; Caputo, Sandrine M.; Caux-Moncoutier, Virginie; Boutry-Kryza, Nadia; Bonnet-Dorion, Francoise; Schultz, Ines; Rossing, Maria; Quenez, Olivier; Goldenberg, Louis; Harter, Valentin; Parsons, Michael T.; Spurdle, Amanda B.; Frebourg, Thierry; Martins, Alexandra; Houdayer, Claude; Krieger, Sophie
HUMAN MUTATION - 1/01/2022
Analysis of hereditary cancer gene variant classifications from ClinVar indicates a need for regular reassessment of clinical assertions
Davidson, Aimee L.; Kondrashova, Olga; Leonard, Conrad; Wood, Scott; Tudini, Emma; Hollway, Georgina E.; Pearson, John, V; Newell, Felicity; Spurdle, Amanda B.; Waddell, Nicola
HUMAN MUTATION - 1/01/2022
Value of the loss of heterozygosity to BRCA1 variant classification.
Santana Dos Santos, Elizabeth; Spurdle, Amanda B; Carraro, Dirce M; Briaux, Adrien; Southey, Melissa; Torrezan, Giovana; Petitalot, Ambre; Leman, Raphael; Lafitte, Philippe; , ; Meseure, Didier; Driouch, Keltouma; Side, Lucy; Brewer, Carole; Beck, Sarah; Melville, Athalie; Callaway, Alison; Revillion, Françoise; Folgueira, Maria A A Koike; Parsons, Michael T; Thorne, Heather; Vincent-Salomon, Anne; Stoppa-Lyonnet, Dominique; Bieche, Ivan; Caputo, Sandrine M; Rouleau, Etienne
NPJ BREAST CANCER - 1/01/2022
Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling, Leila; Carvalho, Sara; Allen, Jamie; Parsons, Michael T; Fortuno, Cristina; González-Neira, Anna; Heijl, Stephan M; Adank, Muriel A; Ahearn, Thomas U; Andrulis, Irene L; Auvinen, Päivi; Becher, Heiko; Beckmann, Matthias W; Behrens, Sabine; Bermisheva, Marina; Bogdanova, Natalia V; Bojesen, Stig E; Bolla, Manjeet K; Bremer, Michael; Briceno, Ignacio; Camp, Nicola J; Campbell, Archie; Castelao, Jose E; Chang-Claude, Jenny; Chanock, Stephen J; Chenevix-Trench, Georgia; , ; Collée, J Margriet; Czene, Kamila; Dennis, Joe; Dörk, Thilo; Eriksson, Mikael; Evans, D Gareth; Fasching, Peter A; Figueroa, Jonine; Flyger, Henrik; Gabrielson, Marike; Gago-Dominguez, Manuela; García-Closas, Montserrat; Giles, Graham G; Glendon, Gord; Guénel, Pascal; Gündert, Melanie; Hadjisavvas, Andreas; Hahnen, Eric; Hall, Per; Hamann, Ute; Harkness, Elaine F; Hartman, Mikael; Hogervorst, Frans B L; Hollestelle, Antoinette; Hoppe, Reiner; Howell, Anthony; , ; , ; Jakubowska, Anna; Jung, Audrey; Khusnutdinova, Elza; Kim, Sung-Won; Ko, Yon-Dschun; Kristensen, Vessela N; Lakeman, Inge M M; Li, Jingmei; Lindblom, Annika; Loizidou, Maria A; Lophatananon, Artitaya; Lubinski, Jan; Luccarini, Craig; Madsen, Michael J; Mannermaa, Arto; Manoochehri, Mehdi; Margolin, Sara; Mavroudis, Dimitrios; Milne, Roger L; Mohd Taib, Nur Aishah; Muir, Kenneth; Nevanlinna, Heli; Newman, William G; Oosterwijk, Jan C; Park, Sue K; Peterlongo, Paolo; Radice, Paolo; Saloustros, Emmanouil; Sawyer, Elinor J; Schmutzler, Rita K; Shah, Mitul; Sim, Xueling; Southey, Melissa C; Surowy, Harald; Suvanto, Maija; Tomlinson, Ian; Torres, Diana; Truong, Thérèse; van Asperen, Christi J; Waltes, Regina; Wang, Qin; Yang, Xiaohong R; Pharoah, Paul D P; Schmidt, Marjanka K; Benitez, Javier; Vroling, Bas; Dunning, Alison M; Teo, Soo Hwang; Kvist, Anders; de la Hoya, Miguel; Devilee, Peter; Spurdle, Amanda B; Vreeswijk, Maaike P G; Easton, Douglas F
GENOME MEDICINE - 1/01/2022
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
Hakkaart, Christopher; Pearson, John F.; Marquart, Louise; Dennis, Joe; Wiggins, George A. R.; Barnes, Daniel R.; Robinson, Bridget A.; Mace, Peter D.; Aittomaki, Kristiina; Andrulis, Irene L.; Arun, Banu K.; Azzollini, Jacopo; Balmana, Judith; Barkardottir, Rosa B.; Belhadj, Sami; Berger, Lieke; Blok, Marinus J.; Boonen, Susanne E.; Borde, Julika; Bradbury, Angela R.; Brunet, Joan; Buys, Saundra S.; Caligo, Maria A.; Campbell, Ian; Chung, Wendy K.; Claes, Kathleen B. M.; Collonge-Rame, Marie-Agnes; Cook, Jackie; Cosgrove, Casey; Couch, Fergus J.; Daly, Mary B.; Dandiker, Sita; Davidson, Rosemarie; de la Hoya, Miguel; de Putter, Robin; Delnatte, Capucine; Dhawan, Mallika; Diez, Orland; Ding, Yuan Chun; Domchek, Susan M.; Donaldson, Alan; Eason, Jacqueline; Easton, Douglas F.; Ehrencrona, Hans; Engel, Christoph; Evans, D. Gareth; Faust, Ulrike; Feliubadalo, Lidia; Fostira, Florentia; Friedman, Eitan; Frone, Megan; Frost, Debra; Garber, Judy; Gayther, Simon A.; Gehrig, Andrea; Gesta, Paul; Godwin, Andrew K.; Goldgar, David E.; Greene, Mark H.; Hahnen, Eric; Hake, Christopher R.; Hamann, Ute; Hansen, Thomas V. O.; Hauke, Jan; Hentschel, Julia; Herold, Natalie; Honisch, Ellen; Hulick, Peter J.; Imyanitov, Evgeny N.; Isaacs, Claudine; Izatt, Louise; Izquierdo, Angel; Jakubowska, Anna; James, Paul A.; Janavicius, Ramunas; John, Esther M.; Joseph, Vijai; Karlan, Beth Y.; Kemp, Zoe; Kirk, Judy; Konstantopoulou, Irene; Koudijs, Marco; Kwong, Ava; Laitman, Yael; Lalloo, Fiona; Lasset, Christine; Lautrup, Charlotte; Lazaro, Conxi; Legrand, Clementine; Leslie, Goska; Lesueur, Fabienne; Mai, Phuong L.; Manoukian, Siranoush; Mari, Veronique; Martens, John W. M.; McGuffog, Lesley; Mebirouk, Noura; Meindl, Alfons; Miller, Austin; Montagna, Marco; Moserle, Lidia; Mouret-Fourme, Emmanuelle; Musgrave, Hannah; Nambot, Sophie; Nathanson, Katherine L.; Neuhausen, Susan L.; Nevanlinna, Heli; Yie, Joanne Ngeow Yuen; Nguyen-Dumont, Tu; Nikitina-Zake, Liene; Offit, Kenneth; Olah, Edith; Olopade, Olufunmilayo I.; Osorio, Ana; Ott, Claus-Eric; Park, Sue K.; Parsons, Michael T.; Pedersen, Inge Sokilde; Peixoto, Ana; Perez-Segura, Pedro; Peterlongo, Paolo; Pocza, Timea; Radice, Paolo; Ramser, Juliane; Rantala, Johanna; Rodriguez, Gustavo C.; Ronlund, Karina; Rosenberg, Efraim H.; Rossing, Maria; Schmutzler, Rita K.; Shah, Payal D.; Sharif, Saba; Sharma, Priyanka; Side, Lucy E.; Simard, Jacques; Singer, Christian F.; Snape, Katie; Steinemann, Doris; Stoppa-Lyonnet, Dominique; Sutter, Christian; Tan, Yen Yen; Teixeira, Manuel R.; Teo, Soo Hwang; Thomassen, Mads; Thull, Darcy L.; Tischkowitz, Marc; Toland, Amanda E.; Trainer, Alison H.; Tripathi, Vishakha; Tung, Nadine; van Engelen, Klaartje; van Rensburg, Elizabeth J.; Vega, Ana; Viel, Alessandra; Walker, Lisa; Weitzel, Jeffrey N.; Wevers, Marike R.; Chenevix-Trench, Georgia; Spurdle, Amanda B.; Antoniou, Antonis C.; Walker, Logan C.
Communications Biology - 1/01/2022
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women.
, ; Dorling, Leila; Carvalho, Sara; Allen, Jamie; González-Neira, Anna; Luccarini, Craig; Wahlström, Cecilia; Pooley, Karen A; Parsons, Michael T; Fortuno, Cristina; Wang, Qin; Bolla, Manjeet K; Dennis, Joe; Keeman, Renske; Alonso, M Rosario; Álvarez, Nuria; Herraez, Belen; Fernandez, Victoria; Núñez-Torres, Rocio; Osorio, Ana; Valcich, Jeanette; Li, Minerva; Törngren, Therese; Harrington, Patricia A; Baynes, Caroline; Conroy, Don M; Decker, Brennan; Fachal, Laura; Mavaddat, Nasim; Ahearn, Thomas; Aittomäki, Kristiina; Antonenkova, Natalia N; Arnold, Norbert; Arveux, Patrick; Ausems, Margreet G E M; Auvinen, Päivi; Becher, Heiko; Beckmann, Matthias W; Behrens, Sabine; Bermisheva, Marina; Bialkowska, Katarzyna; Blomqvist, Carl; Bogdanova, Natalia V; Bogdanova-Markov, Nadja; Bojesen, Stig E; Bonanni, Bernardo; Børresen-Dale, Anne-Lise; Brauch, Hiltrud; Bremer, Michael; Briceno, Ignacio; Brüning, Thomas; Burwinkel, Barbara; Cameron, David A; Camp, Nicola J; Campbell, Archie; Carracedo, Angel; Castelao, Jose E; Cessna, Melissa H; Chanock, Stephen J; Christiansen, Hans; Collée, J Margriet; Cordina-Duverger, Emilie; Cornelissen, Sten; Czene, Kamila; Dörk, Thilo; Ekici, Arif B; Engel, Christoph; Eriksson, Mikael; Fasching, Peter A; Figueroa, Jonine; Flyger, Henrik; Försti, Asta; Gabrielson, Marike; Gago-Dominguez, Manuela; Georgoulias, Vassilios; Gil, Fabian; Giles, Graham G; Glendon, Gord; Garcia, Encarna B Gómez; Alnæs, Grethe I Grenaker; Guénel, Pascal; Hadjisavvas, Andreas; Haeberle, Lothar; Hahnen, Eric; Hall, Per; Hamann, Ute; Harkness, Elaine F; Hartikainen, Jaana M; Hartman, Mikael; He, Wei; Heemskerk-Gerritsen, Bernadette A M; Hillemanns, Peter; Hogervorst, Frans B L; Hollestelle, Antoinette; Ho, Weang Kee; Hooning, Maartje J; Howell, Anthony; Humphreys, Keith; Idris, Faiza; Jakubowska, Anna; Jung, Audrey; Kapoor, Pooja Middha; Kerin, Michael J; Khusnutdinova, Elza; Kim, Sung-Won; Ko, Yon-Dschun; Kosma, Veli-Matti; Kristensen, Vessela N; Kyriacou, Kyriacos; Lakeman, Inge M M; Lee, Jong Won; Lee, Min Hyuk; Li, Jingmei; Lindblom, Annika; Lo, Wing-Yee; Loizidou, Maria A; Lophatananon, Artitaya; Lubinski, Jan; MacInnis, Robert J; Madsen, Michael J; Mannermaa, Arto; Manoochehri, Mehdi; Manoukian, Siranoush; Margolin, Sara; Martinez, Maria Elena; Maurer, Tabea; Mavroudis, Dimitrios; McLean, Catriona; Meindl, Alfons; Mensenkamp, Arjen R; Michailidou, Kyriaki; Miller, Nicola; Mohd Taib, Nur Aishah; Muir, Kenneth; Mulligan, Anna Marie; Nevanlinna, Heli; Newman, William G; Nordestgaard, Børge G; Ng, Pei-Sze; Oosterwijk, Jan C; Park, Sue K; Park-Simon, Tjoung-Won; Perez, Jose I A; Peterlongo, Paolo; Porteous, David J; Prajzendanc, Karolina; Prokofyeva, Darya; Radice, Paolo; Rashid, Muhammad U; Rhenius, Valerie; Rookus, Matti A; Rüdiger, Thomas; Saloustros, Emmanouil; Sawyer, Elinor J; Schmutzler, Rita K; Schneeweiss, Andreas; Schürmann, Peter; Shah, Mitul; Sohn, Christof; Southey, Melissa C; Surowy, Harald; Suvanto, Maija; Thanasitthichai, Somchai; Tomlinson, Ian; Torres, Diana; Truong, Thérèse; Tzardi, Maria; Valova, Yana; van Asperen, Christi J; Van Dam, Rob M; van den Ouweland, Ans M W; van der Kolk, Lizet E; van Veen, Elke M; Wendt, Camilla; Williams, Justin A; Yang, Xiaohong R; Yoon, Sook-Yee; Zamora, M Pilar; Evans, D Gareth; de la Hoya, Miguel; Simard, Jacques; Antoniou, Antonis C; Borg, Åke; Andrulis, Irene L; Chang-Claude, Jenny; García-Closas, Montserrat; Chenevix-Trench, Georgia; Milne, Roger L; Pharoah, Paul D P; Schmidt, Marjanka K; Spurdle, Amanda B; Vreeswijk, Maaike P G; Benitez, Javier; Dunning, Alison M; Kvist, Anders; Teo, Soo H; Devilee, Peter; Easton, Douglas F
The New England journal of medicine - 1/01/2021
Stakeholder attitudes towards establishing a national genomics registry of inherited cancer predisposition: a qualitative study.
Meiser, Bettina; Monnik, Melissa; Austin, Rachel; Nichols, Cassandra; Cops, Elisa; Salmon, Lucinda; Spurdle, Amanda B; Macrae, Finlay; Taylor, Natalie; Pachter, Nicholas; James, Paul; Kaur, Rajneesh
Journal of community genetics - 1/01/2021
Catastrophic chemotherapy toxicity leading to diagnosis of Fanconi anaemia due to FANCD1/BRCA2 during adulthood: description of an emerging phenotype
Ip, Emilia; McNeil, Catriona; Grimison, Peter; Scheinberg, Tahlia; Tudini, Emma; Ho, Gladys; Scott, Rodney J.; Brown, Christina; Sandroussi, Charbel; Guitera, Pascale; Spurdle, Amanda B.; Goodwin, Annabel
JOURNAL OF MEDICAL GENETICS - 1/01/2021