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1. Full Text Germline mutations in RAD51D confer susceptibility to ovarian cancer
by Loveday, Chey and Turnbull, Clare and Ramsay, Emma and Hughes, Deborah and Ruark, Elise and Frankum, Jessica R and Bowden, Georgina and Kalmyrzaev, Bolot and Warren-Perry, Margaret and Snape, Katie and Adlard, Julian W and Barwell, Julian and Berg, Jonathan and Brady, Angela F and Brewer, Carole and Brice, Glen and Chapman, Cyril and Cook, Jackie and Davidson, Rosemarie and Donaldson, Alan and Douglas, Fiona and Greenhalgh, Lynn and Henderson, Alex and Izatt, Louise and Kumar, Ajith and Lalloo, Fiona and Miedzybrodzka, Zosia and Morrison, Patrick J and Paterson, Joan and Porteous, Mary and Rogers, Mark T and Shanley, Susan and Walker, Lisa and Eccles, Diana and Evans, D Gareth and Renwick, Anthony and Seal, Sheila and Lord, Christopher J and Ashworth, Alan and Reis-Filho, Jorge S and Antoniou, Antonis C and Rahman, Nazneen and Breast Canc Susceptibility and Breast Cancer Susceptibility Collaboration (UK)
Nature Genetics, ISSN 1061-4036, 09/2011, Volume 43, Issue 9, pp. 879 - 882
Recently, RAD51C mutations were identified in families with breast and ovarian cancer(1). This observation prompted us to investigate the role of RAD51D in... 
BREAST-CANCER | BRCA2 MUTATIONS | GENE | DNA | SEQUENCE | GENETICS & HEREDITY | HOMOLOGOUS RECOMBINATION | FANCONI-ANEMIA | SPLICING SIGNALS | FAMILIAL OVARIAN | PREDICTION | Cricetinae | Genetic Predisposition to Disease | Age Factors | Cricetulus | Humans | DNA-Binding Proteins - genetics | Poly(ADP-ribose) Polymerase Inhibitors | Ovarian Neoplasms - genetics | Drug Resistance, Neoplasm - genetics | Animals | Pedigree | Germ-Line Mutation | Female | Heterozygote | CHO Cells | Polymerase chain reaction | Usage | Genetic aspects | Research | Gene mutations | Ovarian cancer | Studies | Medical research | Breast cancer | Mutation
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2. Full Text Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer
by Ruark, Elise and Snape, Katie and Humburg, Peter and Loveday, Chey and Bajrami, Ilirjana and Brough, Rachel and Rodrigues, Daniel Nava and Renwick, Anthony and Seal, Sheila and Ramsay, Emma and Duarte, Silvana Del Vecchio and Rivas, Manuel A and Warren-Perry, Margaret and Zachariou, Anna and Campion-Flora, Adriana and Hanks, Sandra and Murray, Anne and Pour, Naser Ansari and Douglas, Jenny and Gregory, Lorna and Rimmer, Andrew and Walker, Neil M and Yang, Tsun-Po and Adlard, Julian W and Barwell, Julian and Berg, Jonathan and Brady, Angela F and Brewer, Carole and Brice, Glen and Chapman, Cyril and Cook, Jackie and Davidson, Rosemarie and Donaldson, Alan and Douglas, Fiona and Eccles, Diana and Gareth Evans, D and Greenhalgh, Lynn and Henderson, Alex and Izatt, Louise and Kumar, Ajith and Lalloo, Fiona and Miedzybrodzka, Zosia and Morrison, Patrick J and Paterson, Joan and Porteous, Mary and Rogers, Mark T and Shanley, Susan and Walker, Lisa and Gore, Martin and Houlston, Richard and Brown, Matthew A and Caufield, Mark J and Deloukas, Panagiotis and McCarthy, Mark I and Todd, John A and Turnbull, Clare and Reis-Filho, Jorge S and Ashworth, Alan and Antoniou, Antonis C and Lord, Christopher J and Donnelly, Peter and Rahman, Nazneen and Wellcome Trust Case Control Consor and Breast Ovarian Canc Susceptibility and Wellcome Trust Case Control Consortium and Breast and Ovarian Cancer Susceptibility Collaboration and The Breast and Ovarian Cancer Susceptibility Collaboration
Nature, ISSN 0028-0836, 01/2013, Volume 493, Issue 7432, pp. 406 - 410
Improved sequencing technologies offer unprecedented opportunities for investigating the role of rare genetic variation in common disease. However, there are... 
PROTEIN | AMPLIFICATION | RARE VARIANTS | PHOSPHATASE | MULTIDISCIPLINARY SCIENCES | GERMLINE MUTATIONS | CONFER SUSCEPTIBILITY | TUMOR-SUPPRESSOR | WIP1 | INHIBITOR | DETECTABLE CLONAL MOSAICISM | Lymphocytes - metabolism | Genetic Predisposition to Disease - genetics | Exons | Isoenzymes - genetics | Humans | Protein Phosphatase 2C | Tumor Suppressor Protein p53 - metabolism | Sequence Analysis, DNA | Ovarian Neoplasms - genetics | Breast Neoplasms - genetics | Phosphoprotein Phosphatases - genetics | Alleles | Female | Mosaicism | Mutation | Cluster Analysis | Gene mutations | Development and progression | Breast cancer | Genetic aspects | Metastasis | Research | Ovarian cancer | Cancer | DNA repair
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3. Full Text Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk
by Gaudet, Mia M and Kuchenbaecker, Karoline B and Vijai, Joseph and Klein, Robert J and Kirchhoff, Tomas and McGuffog, Lesley and Barrowdale, Daniel and Dunning, Alison M and Lee, Anew and Dennis, Joe and Healey, Sue and Dicks, Ed and Soucy, Penny and Sinilnikova, Olga M and Pankratz, Vernon S and Wang, Xianshu and Elidge, Ronald C and Tessier, Daniel C and Vincent, Daniel and Bacot, Francois and Hogervorst, Frans B. L and Peock, Susan and Stoppa-Lyonnet, Dominique and Peterlongo, Paolo and Schmutzler, Rita K and Nathanson, Katherine L and Piedmonte, Marion and Singer, Christian F and Thomassen, Mads and Hansen, Thomas v O and Neuhausen, Susan L and Blanco, Ignacio and Greene, Mark H and Garber, Judith and Weitzel, Jeffrey N and Anulis, Irene L and Goldgar, David E and D'Anea, Emma and Caldes, Trinidad and Nevanlinna, Heli and Osorio, Ana and van Rensburg, Elizabeth J and Arason, Adalgeir and Rennert, Gad and van den Ouweland, Ans M. W and van der Hout, Annemarie H and Kets, Carolien M and Aalfs, Cora M and Wijnen, Juul T and Ausems, Margreet G. E. M and Frost, Debra and Ellis, Steve and Fineberg, Elena and Platte, Radka and Evans, D. Gareth and Jacobs, Chris and Adlard, Julian and Tischkowitz, Marc and Porteous, Mary E and Damiola, Francesca and Golmard, Lisa and Barjhoux, Laure and Longy, Michel and Belotti, Muriel and Ferrer, Sana Fert and Mazoyer, Sylvie and Spurdle, Amanda B and Manoukian, Siranoush and Barile, Monica and Genuardi, Maurizio and Arnold, Norbert and Meindl, Alfons and Sutter, Christian and Wappenschmidt, Barbara and Domchek, Susan M and Pfeiler, Georg and Friedman, Eitan and Jensen, Uffe Birk and Robson, Mark and Shah, Sohela and Lazaro, Conxi and Mai, Phuong L and Benitez, Javier and Southey, Melissa C and Schmidt, Marjanka K and Fasching, Peter A and Peto, Julian and Humphreys, Manjeet K and Wang, Qin and Michailidou, Kyriaki and Sawyer, Elinor J and Burwinkel, Barbara and Guénel, Pascal and Bojesen, Stig E and Milne, Roger L and Brenner, Hermann and Lochmann, Magdalena and Aittomäki, Kristiina and Dörk, Thilo and Margolin, Sara and ... and KConFab Investigators and Ontario Canc Genetics Network and HEBON and EMBRACE and GEMO Study Collaborators and GENICA Network and Ontario Cancer Genetics Network and The GENICA Network
PLoS genetics, ISSN 1553-7390, 2013, Volume 9, Issue 3, p. e1003173
Common genetic variants contribute to the observed variation in breast cancer risk for BRCA2 mutation carriers; those known to date have all been found through... 
BRCA2 MUTATION CARRIERS | CONSORTIUM | COMMON VARIANTS | POPULATION | SUBTYPES | SUSCEPTIBILITY ALLELES | GENETICS & HEREDITY | OVARIAN-CANCER | TRANSCRIPTION FACTOR AP-2 | GENOME-WIDE ASSOCIATION | ZNF365 | Genetic Predisposition to Disease | Genome-Wide Association Study | Humans | Middle Aged | Risk Factors | Genotype | Chromosomes, Human, Pair 6 - genetics | BRCA1 Protein - genetics | Breast Neoplasms - genetics | Breast Neoplasms - pathology | Alleles | Adult | Female | Heterozygote | Aged | Polymorphism, Single Nucleotide | Mutation | BRCA2 Protein - genetics | Gene mutations | Genetic variation | Physiological aspects | Breast cancer | Genetic aspects | Research | Risk factors | Cancer | Human genome | Càncer de mama | Cromosomes humans | Malalties hereditàries | Human chromosomes | Genetic diseases | Genoma humà | Medical research | Womens health
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4. Full Text Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
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
Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor... 
FUNCTIONAL VARIANTS | COMMON VARIANTS | MODIFIERS | MUTATION CARRIERS | OVARIAN CANCERS | GENETICS & HEREDITY | SUSCEPTIBILITY LOCI | ENHANCER | CONFER SUSCEPTIBILITY | GENOME-WIDE ASSOCIATION | REVEALS | Breast cancer | Genetic aspects | Genetic variation | Health aspects | Risk factors | Disease | BRCA1 protein | Genes | Estrogens | Health risks | Estrogen receptors | Risk | Genomes | Carriers | Consortia | Cell cycle | Breast | Hormone replacement therapy | Mutation | Gene mapping | Health risk assessment | Bioinformatics | Cancer | Medical and Health Sciences | Medicin och hälsovetenskap
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5. Full Text Cancer risks for BRCA1 and BRCA2 mutation carriers: Results from prospective analysis of EMBRACE
by Mavaddat, Nasim and Peock, Susan and Frost, Debra and Ellis, Steve and Platte, Radka and Fineberg, Elena and Evans, D. Gareth and Izatt, Louise and Eeles, Rosalind A and Adlard, Julian and Davidson, Rosemarie and Eccles, Diana and Cole, Trevor and Cook, Jackie and Brewer, Carole and Tischkowitz, Marc and Douglas, Fiona and Hodgson, Shirley and Walker, Lisa and Porteous, Mary E and Morrison, Patrick J and Side, Lucy E and Kennedy, M. John and Houghton, Catherine and Donaldson, Alan and Rogers, Mark T and Dorkins, Huw and Miedzybrodzka, Zosia and Gregory, Helen and Eason, Jacqueline and Barwell, Julian and McCann, Emma and Murray, Alex and Antoniou, Antonis C and Easton, Douglas F and EMBRACE and on behalf of EMBRACE
Journal of the National Cancer Institute, ISSN 0027-8874, 06/2013, Volume 105, Issue 11, pp. 812 - 822
Reliable estimates of cancer risk are critical for guiding management of BRCA1 and BRCA2 mutation carriers. The aims of this study were to derive penetrance... 
GENETIC SUSCEPTIBILITY | COMMON VARIANTS | CONTRALATERAL BREAST-CANCER | SURGICAL ADJUVANT BREAST | BILATERAL PROPHYLACTIC OOPHORECTOMY | ONCOLOGY | ASHKENAZI JEWISH CARRIERS | GERMLINE MUTATIONS | REDUCING SALPINGO-OOPHORECTOMY | OVARIAN-CANCER | PROSPECTIVE COHORT | Prospective Studies | Humans | Middle Aged | Incidence | Ovarian Neoplasms - genetics | Adult | Female | Surveys and Questionnaires | Odds Ratio | Breast Neoplasms - epidemiology | Genetic Predisposition to Disease | Ovarian Neoplasms - prevention & control | Ovariectomy | Risk Assessment | Risk Factors | Kaplan-Meier Estimate | Proportional Hazards Models | Ireland - epidemiology | Salpingectomy | Ovarian Neoplasms - epidemiology | BRCA1 Protein - genetics | Breast Neoplasms - genetics | Confounding Factors (Epidemiology) | Primary Prevention - methods | Heterozygote | Aged | Polymorphism, Single Nucleotide | Mutation | United Kingdom - epidemiology | BRCA2 Protein - genetics | Gene mutations | Breast cancer | Genetic aspects | Disease susceptibility | Research | Health aspects | Risk factors
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6. Full Text Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study
by Girardi, Fabio and Barnes, Daniel R and Barrowdale, Daniel and Frost, Debra and Brady, Angela F and Miller, Claire and Henderson, Alex and Donaldson, Alan and Murray, Alex and Brewer, Carole and Pottinger, Caroline and Evans, D Gareth and Eccles, Diana and Lalloo, Fiona and Gregory, Helen and Cook, Jackie and Eason, Jacqueline and Adlard, Julian and Barwell, Julian and Ong, Kai Ren and Walker, Lisa and Izatt, Louise and Side, Lucy E and Kennedy, M John and Tischkowitz, Marc and Rogers, Mark T and Porteous, Mary E and Morrison, Patrick J and Eeles, Ros and Davidson, Rosemarie and Snape, Katie and Easton, Douglas F and Antoniou, Antonis C and EMBRACE
Genetics in Medicine, ISSN 1098-3600, 12/2018, Volume 20, Issue 12, pp. 1575 - 1582
Purpose: BRCA1/BRCA2 predictive test negatives are proven noncarriers of a BRCA1/BRCA2 mutation that is carried by their relatives. The risk of developing... 
breast cancer | risks | ovarian cancer | predictive test negatives | BRCA1/BRCA2 | BOADICEA | SUSCEPTIBILITY | NO EVIDENCE | MODEL | PHENOCOPIES | PROVEN NONCARRIERS | WOMEN | FAMILIES | GENETICS & HEREDITY | BRCA1 | BRCA2
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7. Full Text Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers
by Qian, F and Rookus, MA and Leslie, G and Risch, HA and Greene, MH and Aalfs, CM and Adank, MA and Adlard, J and Agnarsson, BA and Ahmed, M and Aittomaki, K and Andrulis, IL and Arnold, N and Arun, BK and Ausems, MGEM and Azzollini, J and Barrowdale, D and Barwell, J and Benitez, J and Bialkowska, K and Bonadona, V and Borde, J and Borg, A and Bradbury, AR and Brunet, J and Buys, SS and Caldes, T and Caligo, MA and Campbell, I and Carter, J and Chiquette, J and Chung, WK and Claes, KBM and Collee, JM and Collonge-Rame, MA and Couch, FJ and Daly, MB and Delnatte, C and Diez, O and Domchek, SM and Dorfling, CM and Eason, J and Easton, DF and Eeles, R and Engel, C and Evans, DG and Faivre, L and Feliubado, L and Foretova, L and Friedman, E and Frost, D and Ganz, PA and Garber, J and Garcia-Barberan, V and Gehrig, A and Glendon, G and Godwin, AK and Garcia, EBG and Hamann, U and Hauke, J and Hopper, JL and Hulick, PJ and Imyanitov, EN and Isaacs, C and Izatt, L and Jakubowska, A and Janavicius, R and John, EM and Karlan, BY and Kets, CM and Laitman, Y and Lazaro, C and Leroux, D and Lester, J and Lesueur, F and Loud, JT and Lubinski, J and Lukomska, A and McGuffog, L and Mebirouk, N and Meijers-Heijboer, HEJ and Meindl, A and Miller, A and Montagna, M and Mooij, TM and Mouret-Fourme, E and Nathanson, KL and Nehoray, B and Neuhausen, SL and Nevanlinna, H and Nielsen, FC and Offit, K and Olah, E and Ong, KR and Oosterwijk, JC and Ottini, L and Parsons, MT and Peterlongo, P and Pfeiler, G and Pradhan, N and ... and KConFab Investigators and HEBON Investigators and GEMO Study Collaborators and CIMBA and EMBRACE Collaborators and on behalf of CIMBA
BRITISH JOURNAL OF CANCER, ISSN 0007-0920, 07/2019, Volume 121, Issue 2, pp. 180 - 192
BACKGROUND: Height and body mass index (BMI) are associated with higher ovarian cancer risk in the general population, but whether such associations exist... 
MORTALITY | PATHWAYS | APOPTOSIS | OBESITY | ONCOLOGY | INFERTILITY | ANTHROPOMETRIC MEASURES | COHORT | PROGESTIN | ASSOCIATION | BREAST | BRCA2 protein | Ovarian carcinoma | BRCA1 protein | Health risks | Risk | Breast cancer | Ovarian cancer | Post-menopause | Carriers | Consortia | Confidence intervals | Body mass index | Randomization | Body mass | Body size | Hormone replacement therapy | Mutation | Health risk assessment | Cancer
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8. Full Text Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
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
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