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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 and Onkologi och Patologi, MV and Lund University and Division of Clinical Genetics and Oncology and Pathology, MV and Avdelningen för klinisk genetik and BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation and Lunds universitet
Human Mutation, ISSN 1059-7794, 09/2019, Volume 40, Issue 9, pp. 1557 - 1578
Journal Article
Human Mutation, ISSN 1059-7794, 12/2018, Volume 39, Issue 12, pp. 2025 - 2039
Journal Article
by Colombo, Mara and Lòpez‐Perolio, Irene and Meeks, Huong D and Caleca, Laura and Parsons, Michael T and Li, Hongyan and Vecchi, Giovanna and Tudini, Emma and Foglia, Claudia and Mondini, Patrizia and Manoukian, Siranoush and Behar, Raquel and Garcia, Encarna B. Gómez and Meindl, Alfons and Montagna, Marco and Niederacher, Dieter and Schmidt, Ane Y and Varesco, Liliana and Wappenschmidt, Barbara and Bolla, Manjeet K and Dennis, Joe and Michailidou, Kyriaki and Wang, Qin and Aittomäki, Kristiina and Andrulis, Irene L and Anton‐Culver, Hoda and Arndt, Volker and Beckmann, Matthias W and Beeghly‐Fadel, Alicia and Benitez, Javier and Boeckx, Bram and Bogdanova, Natalia V and Bojesen, Stig E and Bonanni, Bernardo and Brauch, Hiltrud and Brenner, Hermann and Burwinkel, Barbara and Chang‐Claude, Jenny and Conroy, Don M and Couch, Fergus J and Cox, Angela and Cross, Simon S and Czene, Kamila and Devilee, Peter and Dörk, Thilo and Eriksson, Mikael and Fasching, Peter A and Figueroa, Jonine and Fletcher, Olivia and Flyger, Henrik and Gabrielson, Marike and García‐Closas, Montserrat and Giles, Graham G and González‐Neira, Anna and Guénel, Pascal and Haiman, Christopher A and Hall, Per and Hamann, Ute and Hartman, Mikael and Hauke, Jan and Hollestelle, Antoinette and Hopper, John L and Jakubowska, Anna and Jung, Audrey and Kosma, Veli‐Matti and Lambrechts, Diether and Le Marchand, Loid and Lindblom, Annika and Lubinski, Jan and Mannermaa, Arto and Margolin, Sara and Miao, Hui and Milne, Roger L and Neuhausen, Susan L and Nevanlinna, Heli and Olson, Janet E and Peterlongo, Paolo and Peto, Julian and Pylkäs, Katri and Sawyer, Elinor J and Schmidt, Marjanka K and Schmutzler, Rita K and Schneeweiss, Andreas and Schoemaker, Minouk J and See, Mee Hoong and Southey, Melissa C and Swerdlow, Anthony and Teo, Soo H and Toland, Amanda E and Tomlinson, Ian and Truong, Thérèse and Asperen, Christi J and den Ouweland, Ans M.W and der Kolk, Lizet E and Winqvist, Robert and Yannoukakos, Drakoulis and Zheng, Wei and Dunning, Alison M and Easton, Douglas F and Henderson, Alex and ... and kConFab AOCS Investigators and Study EMBRACE and Study HEBON and kConFab/AOCS Investigators
Human Mutation, ISSN 1059-7794, 05/2018, Volume 39, Issue 5, pp. 729 - 741
Although the spliceogenic nature of the BRCA2 c.68‐7T > A variant has been demonstrated, its association with cancer risk remains controversial. In this study,... 
quantitative real‐time PCR | multifactorial likelihood analysis | spliceogenic variants | digital PCR | BRCA2 | quantitative real-time PCR | RNA | SEQUENCE VARIANTS | RISK | UNCLASSIFIED VARIANTS | FANCONI-ANEMIA | BREAST | INTEGRATED EVALUATION | INACTIVATION | GENETICS & HEREDITY | MUTATIONS | PCR | Oncology, Experimental | Research | Cancer | BRCA2 protein | Pathogenicity | Transcription | Genetic analysis | Isoforms | Breast cancer
Journal Article
JOURNAL OF MEDICAL GENETICS, ISSN 0022-2593, 06/2019, Volume 56, Issue 6, pp. 347 - 357
The vocabulary currently used to describe genetic variants and their consequences reflects many years of studying and discovering monogenic disease with high... 
PATHOGENICITY | MISSENSE SUBSTITUTIONS | RECOMMENDATIONS | GUIDELINES | GENETICS & HEREDITY | FRAMEWORK | SEQUENCE VARIANTS | CLASSIFICATION | BRCA1 | CODON BIAS | BREAST
Journal Article
Cancer Research, ISSN 0008-5472, 07/2016, Volume 76, Issue 14 Supplement, pp. 1859 - 1859
Many germline DNA sequence variants in gene regulatory elements are associated with an increased risk of cancer. These include large genomic deletions of the... 
Journal Article
by Colombo, Mara and Lòpez-Perolio, Irene and Meeks, Huong D and Caleca, Laura and Parsons, Michael T and Li, Hongyan and De Vecchi, Giovanna and Tudini, Emma and Foglia, Claudia and Mondini, Patrizia and Manoukian, Siranoush and Behar, Raquel and Garcia, Encarna B Gómez and Meindl, Alfons and Montagna, Marco and Niederacher, Dieter and Schmidt, Ane Y and Varesco, Liliana and Wappenschmidt, Barbara and Bolla, Manjeet K and Dennis, Joe and Michailidou, Kyriaki and Wang, Qin and Aittomäki, Kristiina and Andrulis, Irene L and Anton-Culver, Hoda and Arndt, Volker and Beckmann, Matthias W and Beeghly-Fadel, Alicia and Benitez, Javier and Boeckx, Bram and Bogdanova, Natalia V and Bojesen, Stig E and Bonanni, Bernardo and Brauch, Hiltrud and Brenner, Hermann and Burwinkel, Barbara and Chang-Claude, Jenny and Conroy, Don M and Couch, Fergus J and Cox, Angela and Cross, Simon S and Czene, Kamila and Devilee, Peter and Dörk, Thilo and Eriksson, Mikael and Fasching, Peter A and Figueroa, Jonine and Fletcher, Olivia and Flyger, Henrik and Gabrielson, Marike and García-Closas, Montserrat and Giles, Graham G and González-Neira, Anna and Guénel, Pascal and Haiman, Christopher A and Hall, Per and Hamann, Ute and Hartman, Mikael and Hauke, Jan and Hollestelle, Antoinette and Hopper, John L and Jakubowska, Anna and Jung, Audrey and Kosma, Veli-Matti and Lambrechts, Diether and Le Marchand, Loid and Lindblom, Annika and Lubinski, Jan and Mannermaa, Arto and Margolin, Sara and Miao, Hui and Milne, Roger L and Neuhausen, Susan L and Nevanlinna, Heli and Olson, Janet E and Peterlongo, Paolo and Peto, Julian and Pylkäs, Katri and Sawyer, Elinor J and Schmidt, Marjanka K and Schmutzler, Rita K and Schneeweiss, Andreas and Schoemaker, Minouk J and See, Mee Hoong and Southey, Melissa C and Swerdlow, Anthony and Teo, Soo H and Toland, Amanda E and Tomlinson, Ian and Truong, Thérèse and van Asperen, Christi J and van den Ouweland, Ans MW and van der Kolk, Lizet E and Winqvist, Robert and Yannoukakos, Drakoulis and Zheng, Wei and kConFab/AOCS Investigators and Dunning, Alison Margaret and Easton, Douglas Frederick and ...
ISSN 1059-7794, 2018
Although the spliceogenic nature of the BRCA2 c.68-7T>A variant has been demonstrated, its association with cancer risk remains ontroversial. In this study, we... 
kConFab/AOCS Investigators
Journal Article
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