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1. Full Text Germline BAP1 Mutations Predispose to Renal Cell Carcinomas
by Popova, Tatiana and Hebert, Lucie and Jacquemin, Virginie and Gad, Sophie and Caux-Moncoutier, Virginie and Dubois-d’Enghien, Catherine and Richaudeau, Bénédicte and Renaudin, Xavier and Sellers, Jason and Nicolas, André and Sastre-Garau, Xavier and Desjardins, Laurence and Gyapay, Gabor and Raynal, Virginie and Sinilnikova, Olga M and Andrieu, Nadine and Manié, Elodie and de Pauw, Antoine and Gesta, Paul and Bonadona, Valérie and Maugard, Christine M and Penet, Clotilde and Avril, Marie-Françoise and Barillot, Emmanuel and Cabaret, Odile and Delattre, Olivier and Richard, Stéphane and Caron, Olivier and Benfodda, Meriem and Hu, Hui-Han and Soufir, Nadem and Bressac-de Paillerets, Brigitte and Stoppa-Lyonnet, Dominique and Stern, Marc-Henri
American journal of human genetics, ISSN 0002-9297, 06/2013, Volume 92, Issue 6, pp. 974 - 980
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Predisposition to Disease | Kidney Neoplasms - genetics | Genetic Association Studies | Carcinoma, Renal Cell - pathology | Humans | Middle Aged | Carcinoma, Renal Cell - genetics | Male | Mutation, Missense | Ubiquitin Thiolesterase - genetics | Sequence Analysis, DNA | Exome | Pedigree | Base Sequence | Kidney Neoplasms - enzymology | Tumor Suppressor Proteins - genetics | Germ-Line Mutation | Adult | Carcinoma, Renal Cell - enzymology | Female | Kidney Neoplasms - pathology | Polymorphism, Single Nucleotide | Genetics | Mutation | Risk assessment | Melanoma | Tumors | Index Medicus | Report
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2. Full Text BRCA2 deep intronic mutation causing activation of a cryptic exon: Opening toward a new preventive therapeutic strategy
by Anczuków, Olga and Buisson, Monique and Léońe, Mélanie and Coutanson, Christine and Lasset, Christine and Calender, Alain and Sinilnikova, Olga M and Mazoyer, Sylvie
Clinical cancer research, ISSN 1078-0432, 09/2012, Volume 18, Issue 18, pp. 4903 - 4909
Life Sciences & Biomedicine | Oncology | Science & Technology | Biological and medical sciences | Medical sciences | Antineoplastic agents | Pharmacology. Drug treatments | Alternative Splicing | Exons | Introns | Humans | Breast Neoplasms - therapy | Ovarian Neoplasms - genetics | Breast Neoplasms - genetics | Pedigree | Cell Line, Tumor | Genes, BRCA2 | Ovarian Neoplasms - therapy | Female | Genes, BRCA1 | Mutation | Index Medicus | Breast Neoplasms | Life Sciences | Ovarian Neoplasms | Cancer
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3. Full Text RAD51 135G→C Modifies Breast Cancer Risk among BRCA2 Mutation Carriers: Results from a Combined Analysis of 19 Studies
by Antoniou, Antonis C and Sinilnikova, Olga M and Simard, Jacques and Léoné, Mélanie and Dumont, Martine and Neuhausen, Susan L and Struewing, Jeffery P and Stoppa-Lyonnet, Dominique and Barjhoux, Laure and Hughes, David J and Coupier, Isabelle and Belotti, Muriel and Lasset, Christine and Bonadona, Valérie and Bignon, Yves-Jean and Rebbeck, Timothy R and Wagner, Theresa and Lynch, Henry T and Domchek, Susan M and Nathanson, Katherine L and Garber, Judy E and Weitzel, Jeffrey and Narod, Steven A and Tomlinson, Gail and Olopade, Olufunmilayo I and Godwin, Andrew and Isaacs, Claudine and Jakubowska, Anna and Lubinski, Jan and Gronwald, Jacek and Górski, Bohdan and Byrski, Tomasz and Huzarski, Tomasz and Peock, Susan and Cook, Margaret and Baynes, Caroline and Murray, Alexandra and Rogers, Mark and Daly, Peter A and Dorkins, Huw and Schmutzler, Rita K and Versmold, Beatrix and Engel, Christoph and Meindl, Alfons and Arnold, Norbert and Niederacher, Dieter and Deissler, Helmut and Spurdle, Amanda B and Chen, Xiaoqing and Waddell, Nicola and Cloonan, Nicole and Kirchhoff, Tomas and Offit, Kenneth and Friedman, Eitan and Kaufmann, Bella and Laitman, Yael and Galore, Gilli and Rennert, Gad and Lejbkowicz, Flavio and Raskin, Leon and Andrulis, Irene L and Ilyushik, Eduard and Ozcelik, Hilmi and Devilee, Peter and Vreeswijk, Maaike P.G and Greene, Mark H and Prindiville, Sheila A and Osorio, Ana and Benítez, Javier and Zikan, Michal and Szabo, Csilla I and Kilpivaara, Outi and Nevanlinna, Heli and Hamann, Ute and Durocher, Francine and Arason, Adalgeir and Couch, Fergus J and Easton, Douglas F and Chenevix-Trench, Georgia and Consortium of Investigators of Modifiers of and CIMBA and Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation Carriers Study (GEMO) and and and Kathleen Cuningham Consortium for Research into Familial Breast Cancer (kConFab) and Mutation Carriers (EMBRACE) and German Consortium for Hereditary Breast and Ovarian Cancer (GCHBOC) and Epidemiological Study of and Genetic Modifiers Cancer Risk BRC and GCHBOC and Consortium Invest Modifiers BRCA1 and Epidemiological Study BRCA1 BRCA2 and Kathleen Cuningham Consortium Res and Epidemiological Study of BRCA1 and BRCA2 Mutation Carriers (EMBRACE) and Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)
American journal of human genetics, ISSN 0002-9297, 2007, Volume 81, Issue 6, pp. 1186 - 1200
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Gynecology. Andrology. Obstetrics | Mammary gland diseases | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Tumors | Alternative Splicing | Rad51 Recombinase - genetics | Humans | Middle Aged | DNA Repair - genetics | DNA Primers | Reverse Transcriptase Polymerase Chain Reaction | Breast Neoplasms - prevention & control | Genetic Variation | BRCA1 Protein - genetics | Homozygote | Breast Neoplasms - genetics | Adolescent | Adult | Family | Female | Heterozygote | Polymorphism, Single Nucleotide | Mutation | BRCA2 Protein - genetics | Polymerase chain reaction | Usage | Breast cancer | Genetic aspects | Research | Risk factors | Mutation (Biology) | Genotype & phenotype | Gene expression | Deoxyribonucleic acid--DNA | Polymorphism | Index Medicus
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4. Full Text Does the nonsense‐mediated mRNA decay mechanism prevent the synthesis of truncated BRCA1, CHK2, and p53 proteins?
by Anczuków, Olga and Ware, Mark D and Buisson, Monique and Zetoune, Almoutassem B and Stoppa‐Lyonnet, Dominique and Sinilnikova, Olga M and Mazoyer, Sylvie
Human mutation, ISSN 1059-7794, 01/2008, Volume 29, Issue 1, pp. 65 - 73
CHK2 | BRCA1 | breast cancer predisposition | truncated protein | nonsense‐mediated mRNA decay | p53 | Truncated protein | Breast cancer predisposition | Nonsense-mediated mRNA decay | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Tumor Suppressor Protein p53 - biosynthesis | Humans | Protein-Serine-Threonine Kinases - genetics | RNA Stability - drug effects | RNA, Messenger - metabolism | BRCA1 Protein - biosynthesis | RNA Stability - genetics | Tumor Suppressor Protein p53 - genetics | Protein-Serine-Threonine Kinases - biosynthesis | BRCA1 Protein - genetics | Androstadienes - pharmacology | Alleles | Codon, Nonsense - metabolism | Cell Line, Tumor | Checkpoint Kinase 2 | HeLa Cells | Index Medicus
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5. Full Text Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
by Antoniou, Antonis C and Spurdle, Amanda B and Sinilnikova, Olga M and Healey, Sue and Pooley, Karen A and Schmutzler, Rita K and Versmold, Beatrix and Engel, Christoph and Meindl, Alfons and Arnold, Norbert and Hofmann, Wera and Sutter, Christian and Niederacher, Dieter and Deissler, Helmut and Caldes, Trinidad and Kämpjärvi, Kati and Nevanlinna, Heli and Simard, Jacques and Beesley, Jonathan and Chen, Xiaoqing and Neuhausen, Susan L and Rebbeck, Timothy R and Wagner, Theresa and Lynch, Henry T and Isaacs, Claudine and Weitzel, Jeffrey and Ganz, Patricia A and Daly, Mary B and Tomlinson, Gail and Olopade, Olufunmilayo I and Blum, Joanne L and Couch, Fergus J and Peterlongo, Paolo and Manoukian, Siranoush and Barile, Monica and Radice, Paolo and Szabo, Csilla I and Pereira, Lutecia H. Mateus and Greene, Mark H and Rennert, Gad and Lejbkowicz, Flavio and Barnett-Griness, Ofra and Andrulis, Irene L and Ozcelik, Hilmi and Gerdes, Anne-Marie and Caligo, Maria A and Laitman, Yael and Kaufman, Bella and Milgrom, Roni and Friedman, Eitan and Domchek, Susan M and Nathanson, Katherine L and Osorio, Ana and Llort, Gemma and Milne, Roger L and Benítez, Javier and Hamann, Ute and Hogervorst, Frans B.L and Manders, Peggy and Ligtenberg, Marjolijn J.L and van den Ouweland, Ans M.W and Peock, Susan and Cook, Margaret and Platte, Radka and Evans, D. Gareth and Eeles, Rosalind and Pichert, Gabriella and Chu, Carol and Eccles, Diana and Davidson, Rosemarie and Douglas, Fiona and Godwin, Andrew K and Barjhoux, Laure and Mazoyer, Sylvie and Sobol, Hagay and Bourdon, Violaine and Eisinger, François and Chompret, Agnès and Capoulade, Corinne and Bressac-de Paillerets, Brigitte and Lenoir, Gilbert M and Gauthier-Villars, Marion and Houdayer, Claude and Stoppa-Lyonnet, Dominique and Chenevix-Trench, Georgia and Easton, Douglas F and EMBRACE and the Kathleen Cuningham Consortium for Research into Familial Breast Cancer and and and GEMO and on behalf of CIMBA and The Swedish and study collaborators and The DNA-HEBON collaborators and OCGN and Swedish BRCA1 and CIMBA and DNA-HEBON Collaborators and Kathleen Cuningharn Consortium Res and Kathleen Cuningham Consortium for Research into Familial Breast Cancer and DNA-HEBON collaborators and Swedish BRCA1 and BRCA2 study collaborators
American journal of human genetics, ISSN 0002-9297, 04/2008, Volume 82, Issue 4, pp. 937 - 948
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Gynecology. Andrology. Obstetrics | Mammary gland diseases | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Tumors | Genetic Predisposition to Disease - genetics | Humans | Middle Aged | Risk | Breast Neoplasms - genetics | Genes, BRCA2 | Germ-Line Mutation | Adult | Female | Aged | MAP Kinase Kinase Kinase 1 - genetics | Polymorphism, Single Nucleotide | Genes, BRCA1 | Receptor, Fibroblast Growth Factor, Type 2 - genetics | Genotype & phenotype | Genetics | Breast cancer | Mutation | Index Medicus
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6. Full Text Association of Type and Location of BRCA1 and BRCA2 Mutations With Risk of Breast and Ovarian Cancer
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
JAMA : the journal of the American Medical Association, ISSN 0098-7484, 04/2015, Volume 313, Issue 13, pp. 1347 - 1361
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Genetic Predisposition to Disease | Humans | Middle Aged | Risk Factors | Nucleotides | Ovarian Neoplasms - genetics | Breast Neoplasms - genetics | Age of Onset | Genes, BRCA2 | Adult | Female | Heterozygote | Genes, BRCA1 | Mutation | Women | Usage | BRCA mutations | Breast cancer | Health aspects | Risk factors | Ovarian cancer | Disease prevention | Womens health | Index Medicus | Abridged Index Medicus | Medicinsk genetik | Basic Medicine | Medical Genetics | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
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7. Full Text Association Between BRCA1 and BRCA2 Mutations and Survival in Women With Invasive Epithelial Ovarian Cancer
by Bolton, Kelly L and Chenevix- Trench, Georgia and Goh, Cindy and Sadetzki, Siegal and Ramus, Susan J and Karlan, Beth Y and Lambrechts, Diether and Despierre, Evelyn and Barrowdale, Daniel and McGuffog, Lesley and Healey, Sue and Easton, Douglas F and Sinilnikova, Olga and Benítez, Javier and García, María J and Neuhausen, Susan and Gail, Mitchell H and Hartge, Patricia and Peock, Susan and Frost, Debra and Evans, D. Gareth and Eeles, Rosalind and Godwin, Andrew K and Daly, Mary B and Kwong, Ava and Ma, Edmond S. K and Lázaro, Conxi and Blanco, Ignacio and Montagna, Marco and D'Andrea, Emma and Nicoletto, Maria Ornella and Johnatty, Sharon E and Kjær, Susanne Krüger and Jensen, Allan and Høgdall, Estrid and Goode, Ellen L and Fridley, Brooke L and Loud, Jennifer T and Greene, Mark H and Mai, Phuong L and Chetrit, Angela and Lubin, Flora and Hirsh-Yechezkel, Galit and Glendon, Gord and Andrulis, Irene L and Toland, Amanda E and Senter, Leigha and Gore, Martin E and Gourley, Charlie and Michie, Caroline O and Song, Honglin and Tyrer, Jonathan and Whittemore, Alice S and McGuire, Valerie and Sieh, Weiva and Kristoffersson, Ulf and Olsson, Håkan and Borg, Åke and Levine, Douglas A and Steele, Linda and Beattie, Mary S and Chan, Salina and Nussbaum, Robert L and Moysich, Kirsten B and Gross, Jenny and Cass, Ilana and Walsh, Christine and Li, Andrew J and Leuchter, Ronald and Gordon, Ora and Garcia-Closas, Montserrat and Gayther, Simon A and Chanock, Stephen J and Antoniou, Antonis C and Pharoah, Paul D. P and EMBRACE, kConFab Investigators, and The Cancer Genome Atlas Research Network, for the and KConFab Investigators and Canc Genome Atlas Res Network and EMBRACE and Cancer Genome Atlas Research Network and kConFab Investigators
JAMA : the journal of the American Medical Association, ISSN 0098-7484, 01/2012, Volume 307, Issue 4, pp. 382 - 389
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Gynecology. Andrology. Obstetrics | Biological and medical sciences | General aspects | Medical sciences | Female genital diseases | Tumors | Ovarian Neoplasms - genetics | Prognosis | Humans | Middle Aged | Survival Analysis | Genes, BRCA2 | Germ-Line Mutation | Adult | Female | Aged | Genes, BRCA1 | Ovarian Neoplasms - mortality | Cancer patients | BRCA mutations | Causes of | Genetic aspects | Research | Health aspects | Ovarian cancer | Survival analysis | Medical research | Mutation | Womens health | Index Medicus | Abridged Index Medicus | Clinical Medicine | Medicinsk genetik | Basic Medicine | Medical Genetics | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper | Klinisk medicin | Cancer and Oncology | Cancer och onkologi
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8. Full Text Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants
by Houdayer, Claude and Caux‐Moncoutier, Virginie and Krieger, Sophie and Barrois, Michel and Bonnet, Françoise and Bourdon, Violaine and Bronner, Myriam and Buisson, Monique and Coulet, Florence and Gaildrat, Pascaline and Lefol, Cédrick and Léone, Mélanie and Mazoyer, Sylvie and Muller, Danielle and Remenieras, Audrey and Révillion, Françoise and Rouleau, Etienne and Sokolowska, Joanna and Vert, Jean‐Philippe and Lidereau, Rosette and Soubrier, Florent and Sobol, Hagay and Sevenet, Nicolas and Bressac‐de Paillerets, Brigitte and Hardouin, Agnès and Tosi, Mario and Sinilnikova, Olga M and Stoppa‐Lyonnet, Dominique
Human mutation, ISSN 1059-7794, 08/2012, Volume 33, Issue 8, pp. 1228 - 1238
guidelines | BRCA1 | splice prediction | BRCA2 | variants of unknown significance | VUS | Splice prediction | Variants of unknown significance | Guidelines | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | BRCA1 Protein - genetics | Humans | RNA Splicing - genetics | Pathology, Molecular - methods | Exons - genetics | Female | Pathology, Molecular - standards | BRCA2 Protein - genetics | Research | Universities and colleges | Clouds | Neural networks | Oncology, Experimental | Cancer | Index Medicus
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