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Genes, Chromosomes and Cancer, ISSN 1045-2257, 10/2015, Volume 54, Issue 10, pp. 646 - 652
Journal Article
Nucleic Acids Research, ISSN 0305-1048, 2014, Volume 42, Issue 14, pp. 9121 - 9130
Large tandem repeat sequences have been poorly investigated as severe technical limitations and their frequent absence from the genome reference hinder their... 
HUMAN GENOME | GENE | REPEAT | PHENOTYPE ANALYSIS | FAMILIES | BIOCHEMISTRY & MOLECULAR BIOLOGY | DIVERSE POPULATIONS | HAPLOTYPE | COPY NUMBER VARIATION | CHROMOSOME 17Q21 | CONCERTED EVOLUTION | Cell Line | Humans | Mutation Rate | Genes, BRCA1 | Mutation | DNA Copy Number Variations | DNA, Satellite - chemistry | Index Medicus | Life Sciences | Genome Integrity, Repair and
Journal Article
JAMA: Journal of the American Medical Association, ISSN 0098-7484, 04/2015, Volume 313, Issue 13, pp. 1347 - 1347
Rebbeck et al identify mutation-specific cancer risks for carriers of BRCA1/2. Breast and ovarian cancer risks varied by type and location of BRCA1/2... 
Journal Article
JAMA - Journal of the American Medical Association, ISSN 0098-7484, 04/2015, Volume 313, Issue 13, pp. 1347 - 1361
IMPORTANCE Limited information about the relationship between specific mutations in BRCA1 or BRCA2 (BRCA1/2) and cancer risk exists. OBJECTIVE To identify... 
Journal Article
by Kuchenbaecker, Karoline and Ramus, Susan and Tyrer, Jonathan and Lee, Anew and Shen, Howard C and Beesley, Jonathan and Lawrenson, Kate and McGuffog, Lesley and Healey, Sue and Lee, Janet M and Spindler, Tassja J and Lin, Yvonne G and Pejovic, Tanja and Bean, Yukie and Li, Qiyuan and Coetzee, Simon and Hazelett, Dennis and Miron, Alexander and Southey, Melissa and Terry, Mary Beth and Goldgar, David and Buys, Sauna and Janavicius, Ramunas and Dorfling, Cecilia and Rensburg, Elizabeth and Neuhausen, Susan and Ding, Yuan and Hansen, Thomas and Jønson, Lars and Gerdes, Anne-Marie and Ejlertsen, Bent and Barrowdale, Daniel and Dennis, Joe and Benítez, Javier and Osorio, Ana and Garcia, Maria Jose and Komenaka, Ian and Weitzel, Jeffrey and Ganschow, Pamela and Peterlongo, Paolo and Bernard, Loris and Viel, Alessana and Bonnani, Bernardo and Peissel, Bernard and Manoukian, Siranoush and Radice, Paolo and Papi, Laura and Ottini, Laura and Fostira, Florentia and Konstantopoulou, I and Garber, Judy and Frost, Debra and Perkins, Jo and Platte, Radka and Ellis, Steve and Godwin, Anew K and Schmutzler, Rita and Meindl, Alfons and Engel, Christoph and Sutter, Christian and Sinilnikova, Olga and Damiola, Francesca and Mazoyer, Sylvie and Stoppa-Lyonnet, Dominique and Claes, Kathleen B.M and De Leeneer, Kim and Kirk, Judy and Roiguez, Gustavo and Piedmonte, Marion and O'Malley, David M and Hoya, Miguel and Caldes, Trinidad and Aittomäki, Kristiina and Nevanlinna, Heli and Margriet, J. Collée and Rookus, Matti and Oosterwijk, Jan and Tihomirova, Laima and Tung, Nadine and Hamann, Ute and Isaccs, Claudine and Tischkowitz, Marc and Imyanitov, Evgeny and Caligo, Maria and Campbell, Ian and Hogervorst, Frans and Olah, E and Díez, Orland and Blanco, Ignacio and Brunet, Joan and Lazaro, Conxi and Pujana, Miguel and Jakubowska, Anna and Gronwald, Jacek and Lubinski, Jan and Sukiennicki, Grzegorz and Barkardottir, Rosa and Plante, Marie and Simard, Jacques and Soucy, Penny and ... and KConFab Investigators and EMBRACE and GEMO Study Collaborators and Breast Cancer Family Registry and Australian Ovarian Canc Study Grp and HEBON and Consortium Invest Modifiers BRCA1 and Australian Canc Study Ovarian Canc and Australian Cancer Study (Ovarian Cancer Investigators) and Australian Ovarian Cancer Study Group and Consortium of Investigators of Modifiers of BRCA1 and BRCA2 and the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 and Region Östergötland and Linköpings universitet and Institutionen för klinisk och experimentell medicin and Diagnostikcentrum and Klinisk patologi och klinisk genetik and Avdelningen för kliniska vetenskaper and Hälsouniversitetet
Nature Genetics, ISSN 1061-4036, 01/2015, Volume 47, Issue 2, pp. 164 - 171
Journal Article
by Couch, Fergus J and Wang, Xianshu and McGuffog, Lesley and Lee, Anew and Olswold, Curtis and Kuchenbaecker, Karoline B and Soucy, Penny and Fredericksen, Zachary and Barrowdale, Daniel and Dennis, Joe and Gaudet, Mia M and Dicks, Ed and Kosel, Matthew and Healey, Sue and Sinilnikova, Olga M and Lee, Adam and Bacot, François and Vincent, Daniel and Hogervorst, Frans B. L and Peock, Susan and Stoppa-Lyonnet, Dominique and Jakubowska, Anna and Radice, Paolo and Schmutzler, Rita Katharina and Domchek, Susan M and Piedmonte, Marion and Singer, Christian F and Friedman, Eitan and Thomassen, Mads and Hansen, Thomas V. O and Neuhausen, Susan L and Szabo, Csilla I and Blanco, Ignacio and Greene, Mark H and Karlan, Beth Y and Garber, Judy and Phelan, Catherine M and Weitzel, Jeffrey N and Montagna, Marco and Olah, Edith and Anulis, Irene L and Godwin, Anew K and Yannoukakos, koulis and Goldgar, David E and Caldes, Trinidad and Nevanlinna, Heli and Osorio, Ana and Terry, Mary Beth and Daly, Mary B and van Rensburg, Elizabeth J and Hamann, Ute and Ramus, Susan J and Toland, Amanda Ewart and Caligo, Maria A and Olopade, Olufunmilayo I and Tung, Nadine and Claes, Kathleen and Beattie, Mary S and Southey, Melissa C and Imyanitov, Evgeny N and Tischkowitz, Marc and Janavicius, Ramunas and John, Esther M and Kwong, Ava and Diez, Orland and Balmaña, Judith and Barkardottir, Rosa B and Arun, Banu K and Rennert, Gad and teo, Soo-Hwang and Ganz, Patricia A and Campbell, Ian and van der Hout, Annemarie H and van Deurzen, Carolien H. M and Seynaeve, Caroline and Gómez Garcia, Encarna B and van Leeuwen, Flora E and Meijers-Heijboer, Hanne E. J and Gille, Johannes J. P and Ausems, Margreet G. E. M and Blok, Marinus J and Ligtenberg, Marjolijn J. L and Rookus, Matti A and Devilee, Peter and Verhoef, Senno and van Os, Theo A. M and Wijnen, Juul T and Frost, Debra and Ellis, Steve and Fineberg, Elena and Platte, Radka and Evans, D. Gareth and Izatt, Louise and Eeles, Rosalind A and Adlard, Julian and Eccles, Diana M and Cook, Jackie and Brewer, Carole and Douglas, Fiona and Hodgson, Shirley and ... and KConFab Investigators and Ontario Canc Genetics Network and EMBRACE and GEMO Study Collaborators and CIMBA and HEBON and BCFR and SWE-BRCA and Ontario Cancer Genetics Network and kConFab Investigators and on behalf of CIMBA and Linköpings universitet and Institutionen för klinisk och experimentell medicin and Onkologi and Hälsouniversitetet
PLoS genetics, ISSN 1553-7390, 2013, Volume 9, Issue 3, p. e1003212
Journal Article
by Bojesen, Stig E and Pooley, Karen A and Johnatty, Sharon E and Beesley, Jonathan and Michailidou, Kyriaki and Tyrer, Jonathan P and Edwards, Stacey L and Pickett, Hilda A and Shen, Howard C and Smart, Chanel E and Hillman, Kristine M and Mai, Phuong L and Lawrenson, Kate and Stutz, Michael D and Lu, Yi and Karevan, Rod and Woods, Nicholas and Johnston, Rebecca L and French, Juliet D and Chen, Xiaoqing and Weischer, Maren and Nielsen, Sune F and Maranian, Melanie J and Ghoussaini, Maya and Ahmed, Shahana and Baynes, Caroline and Bolla, Manjeet K and Wang, Qin and Dennis, Joe and McGuffog, Lesley and Barrowdale, Daniel and Lee, Anew and Healey, Sue and Lush, Michael and Tessier, Daniel C and Vincent, Daniel and Bacot, Françis and Vergote, Ignace and Lambrechts, Sanina and Despierre, Evelyn and Risch, Harvey A and González-Neira, Anna and Rossing, Mary Anne and Pita, Guillermo and Doherty, Jennifer A and Alvarez, Nuria and Larson, Melissa C and Fridley, Brooke L and Schoof, Nils and Chang-Claude, Jenny and Cicek, Mine S and Peto, Julian and Kalli, Kimberly R and Broeks, Annegien and Armasu, Sebastian M and Schmidt, Marjanka K and Braaf, Linde M and Winterhoff, Boris and Nevanlinna, Heli and Konecny, Gottfried E and Lambrechts, Diether and Rogmann, Lisa and Guénel, Pascal and Teoman, Attila and Milne, Roger L and Garcia, Joaquin J and Cox, Angela and Shridhar, Vijayalakshmi and Burwinkel, Barbara and Marme, Frederik and Hein, Rebecca and Sawyer, Elinor J and Haiman, Christopher A and Wang-Gohrke, Shan and Anulis, Irene L and Moysich, Kirsten B and Hopper, John L and Odunsi, Kunle and Lindblom, Annika and Giles, Graham G and Brenner, Hermann and Simard, Jacques and Lurie, Galina and Fasching, Peter A and Carney, Michael E and Radice, Paolo and Wilkens, Lynne R and Swerdlow, Anthony and Goodman, Marc T and Brauch, Hiltrud and Garcia-Closas, Montserrat and Hillemanns, Peter and Winqvist, Robert and Dürst, Matthias and Devilee, Peter and Runnebaum, Ingo and Jakubowska, Anna and Lubinski, Jan and Mannermaa, Arto and Butzow, Ralf and ... and Gene Environm Interactimi Breast and Kathleen Cuningham Fdn Consortium and Australian Ovarian Canc Study and Epidemiological Study BRCA1 and Hereditary Breast Ovarian Canc Res and Genetic Modifiers Canc Risk BRCA1 and Australian Canc Study and Swedish Breast Canc Study SWE-BRCA and Medicinska fakulteten and Umeå universitet and Institutionen för strålningsvetenskaper
Nature genetics, ISSN 1061-4036, 2013, Volume 45, Issue 4, pp. 371 - 384
Journal Article
Genes, Chromosomes and Cancer, ISSN 1045-2257, 05/2008, Volume 47, Issue 5, pp. 418 - 426
Numerous mutations identified in breast/ovarian cancer families occur in splice sites of the BRCA1 gene. Splicing can also be disrupted by mutations occurring... 
UNKNOWN CLINICAL-SIGNIFICANCE | ONCOLOGY | NONSENSE | DNA | GENES | GENETICS & HEREDITY | NF1 | SEQUENCE VARIANTS | CANCER-PREDISPOSITION | ABERRANT | MISSENSE MUTATIONS | BREAST | RNA Splicing | Mutagenesis, Site-Directed | Exons | Base Sequence | Humans | Genes, BRCA1 | HeLa Cells | DNA Primers | Reverse Transcriptase Polymerase Chain Reaction | Index Medicus
Journal Article
by Rebbeck, Timothy R and Mitra, Nandita and Wan, Fei and Sinilnikova, Olga M and Healey, Sue and McGuffog, Lesley and Mazoyer, Sylvie and Chenevix-Trench, Georgia and Easton, Douglas F and Antoniou, Antonis C and Nathanson, Katherine L and Laitman, Yael and Kushnir, Anya and Paluch-Shimon, Shani and Berger, Raanan and Zidan, Jamal and Friedman, Eitan and Ehrencrona, Hans and Stenmark-Askmalm, Marie and Einbeigi, Zakaria and Loman, Niklas and Harbst, Katja and Rantala, Johanna and Melin, Beatrice and Huo, Dezheng and Olopade, Olufunmilayo I and Seldon, Joyce and Ganz, Patricia A and Nussbaum, Robert L and Chan, Salina B and Odunsi, Kunle and Gayther, Simon A and Domchek, Susan M and Arun, Banu K and Lu, Karen H and Mitchell, Gillian and Karlan, Beth Y and Walsh, Christine and Lester, Jenny and Godwin, Andrew K and Pathak, Harsh and Ross, Eric and Daly, Mary B and Whittemore, Alice S and John, Esther M and Miron, Alexander and Terry, Mary Beth and Chung, Wendy K and Goldgar, David E and Buys, Saundra S and Janavicius, Ramunas and Tihomirova, Laima and Tung, Nadine and Dorfling, Cecilia M and van Rensburg, Elizabeth J and Steele, Linda and Neuhausen, Susan L and Ding, Yuan Chun and Ejlertsen, Bent and Gerdes, Anne-Marie and Hansen, Thomas v. O and Ramón y Cajal, Teresa and Osorio, Ana and Benitez, Javier and Godino, Javier and Tejada, Maria-Isabel and Duran, Mercedes and Weitzel, Jeffrey N and Bobolis, Kristie A and Sand, Sharon R and Fontaine, Annette and Savarese, Antonella and Pasini, Barbara and Peissel, Bernard and Bonanni, Bernardo and Zaffaroni, Daniela and Vignolo-Lutati, Francesca and Scuvera, Giulietta and Giannini, Giuseppe and Bernard, Loris and Genuardi, Maurizio and Radice, Paolo and Dolcetti, Riccardo and Manoukian, Siranoush and Pensotti, Valeria and Gismondi, Viviana and Yannoukakos, Drakoulis and Fostira, Florentia and Garber, Judy and Torres, Diana and Rashid, Muhammad Usman and Hamann, Ute and Peock, Susan and Frost, Debra and Platte, Radka and Evans, D. Gareth and Eeles, Rosalind and Davidson, Rosemarie and Eccles, Diana and Cole, Trevor and ... and CIMBA Consortium and Lund University and Division of Clinical Genetics and BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation and Avdelningen för klinisk genetik and Lunds universitet
JAMA, ISSN 0098-7484, 04/2015, Volume 313, Issue 13, pp. 1347 - 1361
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2013, Volume 92, Issue 6, pp. 974 - 980
Journal Article
Journal Article