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Journal of Medical Genetics, ISSN 0022-2593, 07/2016, Volume 53, Issue 7, pp. 465 - 471
Journal Article
by Parsons, Michael T and Tudini, Emma and Li, Hongyan and Hahnen, Eric and Wappenschmidt, Barbara and Feliubadaló, Lidia and Aalfs, Cora M and Agata, Simona and Aittomäki, Kristiina and Alducci, Elisa and Alonso‐Cerezo, María Concepción and Arnold, Norbert and Auber, Bernd and Austin, Rachel and Azzollini, Jacopo and Balmaña, Judith and Barbieri, Elena and Bartram, Claus R and Blanco, Ana and Blümcke, Britta and Bonache, Sandra and Bonanni, Bernardo and Borg, Åke and Bortesi, Beatrice and Brunet, Joan and Bruzzone, Carla and Bucksch, Karolin and Cagnoli, Giulia and Caldés, Trinidad and Caliebe, Almuth and Caligo, Maria A and Calvello, Mariarosaria and Capone, Gabriele L and Caputo, Sandrine M and Carnevali, Ileana and Carrasco, Estela and Caux‐Moncoutier, Virginie and Cavalli, Pietro and Cini, Giulia and Clarke, Edward M and Concolino, Paola and Cops, Elisa J and Cortesi, Laura and Couch, Fergus J and Darder, Esther and Hoya, Miguel and Dean, Michael and Debatin, Irmgard and Del Valle, Jesús and Delnatte, Capucine and Derive, Nicolas and Diez, Orland and Ditsch, Nina and Domchek, Susan M and Dutrannoy, Véronique and Eccles, Diana M and Ehrencrona, Hans and Enders, Ute and Evans, D. Gareth and Farra, Chantal and Faust, Ulrike and Felbor, Ute and Feroce, Irene and Fine, Miriam and Foulkes, William D and Galvao, Henrique C.R and Gambino, Gaetana and Gehrig, Andrea and Gensini, Francesca and Gerdes, Anne‐Marie and Germani, Aldo and Giesecke, Jutta and Gismondi, Viviana and Gómez, Carolina and Garcia, Encarna B and González, Sara and Grau, Elia and Grill, Sabine and Gross, Eva and Guerrieri‐Gonzaga, Aliana and Guillaud‐Bataille, Marine and Gutiérrez‐Enríquez, Sara and Haaf, Thomas and Hackmann, Karl and Hansen, Thomas V.O and Harris, Marion and Hauke, Jan and Heinrich, Tilman and Hellebrand, Heide and Herold, Karen N and Honisch, Ellen and Horvath, Judit and Houdayer, Claude and Hübbel, Verena and Iglesias, Silvia and Izquierdo, Angel and James, Paul A and Janssen, Linda A.M and Jeschke, Udo and Kaulfuß, Silke and ... and KConFab Investigators
Human Mutation, ISSN 1059-7794, 09/2019, Volume 40, Issue 9, pp. 1557 - 1578
The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for multiple cancer syndrome genes.... 
uncertain significance | clinical | quantitative | variant | multifactorial | BRCA1 | BRCA2 | classification | RISKS | GUIDELINES | SEQUENCE VARIANTS | SPLICING ANALYSIS | INTEGRATED EVALUATION | BREAST-CANCER | FUNCTIONAL ASSAYS | GENETICS & HEREDITY | CLINGEN | OVARIAN | RNA | Segregation | BRCA2 protein | Pathogenicity | Splicing | AMP | BRCA1 protein | Classification | Breast cancer | mRNA | Life Sciences | Human health and pathology | Special
Journal Article
by Milne, Roger L and Kuchenbaecker, Karoline B and Michailidou, Kyriaki and Beesley, Jonathan and Kar, Siddhartha and Lindström, Sara and Hui, Shirley and Lemaçon, Auey and Soucy, Penny and Dennis, Joe and Jiang, Xia and Rostamianfar, Asha and Finucane, Hilary and Bolla, Manjeet K and McGuffog, Lesley and Wang, Qin and Aalfs, Cora M and Adams, Marcia and Adlard, Julian and Agata, Simona and Ahmed, Shahana and Ahsan, Habibul and Aittomäki, Kristiina and Al-Ejeh, Fares and Allen, Jamie and Ambrosone, Christine B and Amos, Christopher I and Anulis, Irene L and Anton-Culver, Hoda and Antonenkova, Natalia N and Arndt, Volker and Arnold, Norbert and Aronson, Kristan J and Auber, Bernd and Auer, Paul L and Ausems, Margreet G. E. M and Azzollini, Jacopo and Bacot, François and Balmaña, Judith and Barile, Monica and Barjhoux, Laure and Barkardottir, Rosa B and Barrdahl, Myrto and Barnes, Daniel and Barrowdale, Daniel and Baynes, Caroline and Beckmann, Matthias W and Benitez, Javier and Bermisheva, Marina and Bernstein, Leslie and Bignon, Yves-Jean and Blazer, Kathleen R and Blok, Marinus J and Blomqvist, Carl and Blot, William and Bobolis, Kristie and Boeckx, Bram and Bogdanova, Natalia V and Bojesen, Anders and Bojesen, Stig E and Bonanni, Bernardo and Børresen-Dale, Anne-Lise and Bozsik, Aniko and Bradbury, Angela R and Brand, Judith S and Brauch, Hiltrud and Brenner, Hermann and Bressac-de Paillerets, Brigitte and Brewer, Carole and Brinton, Louise and Broberg, Per and Brooks-Wilson, Angela and Brunet, Joan and Brüning, Thomas and Burwinkel, Barbara and Buys, Sauna S and Byun, Jinyoung and Cai, Qiuyin and Caldés, Trinidad and Caligo, Maria A and Campbell, Ian and Canzian, Federico and Caron, Olivier and Carracedo, Angel and Carter, Brian D and Castelao, J. Esteban and Castera, Laurent and Caux-Moncoutier, Virginie and Chan, Salina B and Chang-Claude, Jenny and Chanock, Stephen J and Chen, Xiaoqing and Cheng, Ting-Yuan David and Chiquette, Jocelyne and Christiansen, Hans and Claes, Kathleen B. M and Clarke, Christine L and Conner, Thomas and Conroy, Don M and Cook, Jackie and ... and ABCTB Investigators and HEBON and EMBRACE and GEMO Study Collaborators and kConFab AOCS Investigators and NBSC Collaborators and kConFab/AOCS Investigators and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för immunologi, genetik och patologi and Medicinsk genetik och genomik and Ortopedi and Uppsala universitet and Institutionen för kirurgiska vetenskaper
Nature genetics, ISSN 1061-4036, 2017, Volume 49, Issue 12, pp. 1767 - 1778
Journal Article
Breast Cancer Research and Treatment, ISSN 0167-6806, 7/2015, Volume 152, Issue 1, pp. 129 - 136
Journal Article
Journal Article
Clinical Chemistry and Laboratory Medicine, ISSN 1434-6621, 03/2009, Volume 47, Issue 3, pp. 268 - 274
Journal Article
by Ferreira, Manuel A and Gamazon, Eric R and Al-Ejeh, Fares and Aittomäki, Kristiina and Andrulis, Irene L and Anton-Culver, Hoda and Arason, Adalgeir and Arndt, Volker and Aronson, Kristan J and Arun, Banu K and Asseryanis, Ella and Azzollini, Jacopo and Balmaña, Judith and Barnes, Daniel R and Barrowdale, Daniel and Beckmann, Matthias W and Behrens, Sabine and Benitez, Javier and Bermisheva, Marina and Białkowska, Katarzyna and Blomqvist, Carl and Bogdanova, Natalia V and Bojesen, Stig E and Bolla, Manjeet K and Borg, Ake and Brauch, Hiltrud and Brenner, Hermann and Broeks, Annegien and Burwinkel, Barbara and Caldés, Trinidad and Caligo, Maria A and Campa, Daniele and Campbell, Ian and Canzian, Federico and Carter, Jonathan and Carter, Brian D and Castelao, Jose E and Chang-Claude, Jenny and Chanock, Stephen J and Christiansen, Hans and Chung, Wendy K and Claes, Kathleen B. M and Clarke, Christine L and Adlard, Julian and Ahmed, Munaza and Barwell, Julian and Brady, Angela and Brewer, Carole and Cook, Jackie and Davidson, Rosemarie and Donaldson, Alan and Eason, Jacqueline and Eeles, Ros and Evans, D. Gareth and Gregory, Helen and Hanson, Helen and Henderson, Alex and Hodgson, Shirley and Izatt, Louise and Kennedy, M. John and Lalloo, Fiona and Miller, Clare and Morrison, Patrick J and Ong, Kai-ren and Perkins, Jo and Porteous, Mary E and Rogers, Mark T and Side, Lucy E and Snape, Katie and Walker, Lisa and Harrington, Patricia A and Arnold, Norbert and Auber, Bernd and Bogdanova-Markov, Nadja and Borde, Julika and Caliebe, Almuth and Ditsch, Nina and Dworniczak, Bernd and Engert, Stefanie and Faust, Ulrike and Gehrig, Andrea and Hahnen, Eric and Hauke, Jan and Hentschel, Julia and Herold, Natalie and Honisch, Ellen and Just, Walter and Kast, Karin and Larsen, Mirjam and Lemke, Johannes and Nguyen, Huu Phuc and Niederacher, Dieter and Ott, Claus-Eric and Platzer, Konrad and Pohl-Rescigno, Esther and Ramser, Juliane and Rhiem, Kerstin and Steinemann, Doris and Sutter, Christian and Varon-Mateeva, Raymonda and ... and BCFR Investigators and ABCTB Investigators and HEBON Investigators and GC-HBOC Study Collaborators and GEMO Study Collaborators and EMBRACE Collaborators
Nature Communications, ISSN 2041-1723, 12/2019, Volume 10, Issue 1, pp. 1741 - 18
Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants... 
REGULATOR | CELLS | COMPLEX | VARIANTS | CHROMATIN | CYCLIN E2 | AUTOIMMUNITY | MULTIDISCIPLINARY SCIENCES | DISEASE | ENHANCERS | EXPRESSION | Spleen | Immune response | Adipose tissue | Target recognition | Genes | Estrogens | Health risks | Estrogen receptors | Risk | Breast cancer | Genomes | Gene expression | Loci | Quantitative trait loci | Etiology | Breast | Gene mapping | Health risk assessment | Cancer | Immune system
Journal Article
Journal of Infectious Diseases, ISSN 0022-1899, 09/2016, Volume 214, Issue 5, pp. 772 - 781
Journal Article
by de la Hoya, Miguel and Soukarieh, Omar and López-Perolio, Irene and Vega, Ana and Walker, Logan C and van Ierland, Yvette and Baralle, Diana and Santamariña, Marta and Lattimore, Vanessa and Wijnen, Juul and Whiley, Philip and Blanco, Ana and Raponi, Michela and Hauke, Jan and Wappenschmidt, Barbara and Becker, Alexandra and Hansen, Thomas V.O and Behar, Raquel and KConFaB Investigators, Investigators and Niederacher, Diether and Arnold, Norbert and Dworniczak, Bernd and Steinemann, Doris and Faust, Ulrike and Rubinstein, Wendy and Hulick, Peter J and Houdayer, Claude and Caputo, Sandrine M and Castera, Laurent and Pesaran, Tina and Chao, Elizabeth and Brewer, Carole and Southey, Melissa C and van Asperen, Christi J and Singer, Christian F and Sullivan, Jan and Poplawski, Nicola and Mai, Phuong and Peto, Julian and Johnson, Nichola and Burwinkel, Barbara and Surowy, Harald and Bojesen, Stig E and Flyger, Henrik and Lindblom, Annika and Margolin, Sara and Chang-Claude, Jenny and Rudolph, Anja and Radice, Paolo and Galastri, Laura and Olson, Janet E and Hallberg, Emily and Giles, Graham G and Milne, Roger L and Andrulis, Irene L and Glendon, Gord and Hall, Per and Czene, Kamila and Blows, Fiona and Shah, Mitul and Wang, Qin and Dennis, Joe and Michailidou, Kyriaki and McGuffog, Lesley and Bolla, Manjeet K and Antoniou, Antonis C and Easton, Douglas F and Couch, Fergus J and Tavtigian, Sean and Vreeswijk, Maaike P and Parsons, Michael and Meeks, Huong D and Martins, Alexandra and Goldgar, David E and Spurdle, Amanda B and KConFaB Investigators
Human Molecular Genetics, ISSN 0964-6906, 06/2016, Volume 25, Issue 11, pp. 2256 - 2268
Journal Article