Now showing items 21-40 of 147

    • Prevalence of vascular complications among patients with glucokinase mutations and prolonged, mild hyperglycemia 

      Steele, A. M.; Shields, Beverley M; Wensley, K. J.; Colclough, Kevin; Ellard, Sian; Hattersley, Andrew T. (JAMA, 2014-01-15)
      IMPORTANCE: Glycemic targets in diabetes have been developed to minimize complication risk. Patients with heterozygous, inactivating glucokinase (GCK) mutations have mild fasting hyperglycemia from birth, resulting in an ...
    • Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disability 

      Proudfoot, Malcolm; Gutowski, Nicholas J.; Edbauer, D.; Hilton, D. A.; Stephens, M.; Rankin, Julia; Mackenzie, I. R. (Springer, 2014-03-01)
      Familial cases of frontotemporal dementia (FTD) provide an opportunity to study the pathophysiology of this clinically diverse condition. The C9ORF72 mutation is the most common cause of familial FTD, recent pathological ...
    • DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers 

      Osorio, A.; Milne, R. L.; Kuchenbaecker, K.; Vaclova, T.; Pita, G.; Alonso, R.; Peterlongo, P.; Blanco, I.; de la Hoya, M.; Duran, M.; Diez, O.; Ramon, Y. Cajal T.; Konstantopoulou, I.; Martinez-Bouzas, C.; Andres Conejero, R.; Soucy, P.; McGuffog, L.; Barrowdale, D.; Lee, A.; Swe, Brca; Arver, B.; Rantala, J.; Loman, N.; Ehrencrona, H.; Olopade, O. I.; Beattie, M. S.; Domchek, S. M.; Nathanson, K.; Rebbeck, T. R.; Arun, B. K.; Karlan, B. Y.; Walsh, C.; Lester, J.; John, E. M.; Whittemore, A. S.; Daly, M.; Southey, M.; Hopper, J.; Terry, M. B.; Buys, S. S.; Janavicius, R.; Dorfling, C. M.; van Rensburg, E. J.; Steele, L.; Neuhausen, S. L.; Ding, Y. C.; Hansen, T. V.; Jonson, L.; Ejlertsen, B.; Gerdes, A. M.; Infante, M.; Herraez, B.; Moreno, L. T.; Weitzel, J. N.; Herzog, J.; Weeman, K.; Manoukian, S.; Peissel, B.; Zaffaroni, D.; Scuvera, G.; Bonanni, B.; Mariette, F.; Volorio, S.; Viel, A.; Varesco, L.; Papi, L.; Ottini, L.; Tibiletti, M. G.; Radice, P.; Yannoukakos, D.; Garber, J.; Ellis, S.; Frost, D.; Platte, R.; Fineberg, E.; Evans, G.; Lalloo, F.; Izatt, L.; Eeles, R.; Adlard, J.; Davidson, R.; Cole, T.; Eccles, D.; Cook, J.; Hodgson, S.; Brewer, Carole; Tischkowitz, M.; Douglas, F.; Porteous, M.; Side, L.; Walker, L.; Morrison, P.; Donaldson, A.; Kennedy, J.; Foo, C.; Godwin, A. K.; Schmutzler, R. K.; Wappenschmidt, B.; Rhiem, K.; Engel, C.; Meindl, A.; Ditsch, N.; Arnold, N.; Plendl, H. J.; Niederacher, D.; Sutter, C.; Wang-Gohrke, S.; Steinemann, D.; Preisler-Adams, S.; Kast, K.; Varon-Mateeva, R.; Gehrig, A.; Stoppa-Lyonnet, D.; Sinilnikova, O. M.; Mazoyer, S.; Damiola, F.; Poppe, B.; Claes, K.; Piedmonte, M.; Tucker, K.; Backes, F.; Rodriguez, G.; Brewster, W.; Wakeley, K.; Rutherford, T.; Caldes, T.; Nevanlinna, H.; Aittomaki, K.; Rookus, M. A.; van Os, T. A.; van der Kolk, L.; de Lange, J. L.; Meijers-Heijboer, H. E.; van der Hout, A. H.; van Asperen, C. J.; Gomez Garcia, E. B.; Hoogerbrugge, N.; Collee, J. M.; van Deurzen, C. H.; van der Luijt, R. B.; Devilee, P.; Hebon,; Olah, E.; Lazaro, C.; Teule, A.; Menendez, M.; Jakubowska, A.; Cybulski, C.; Gronwald, J.; Lubinski, J.; Durda, K.; Jaworska-Bieniek, K.; Johannsson, O. T.; Maugard, C.; Montagna, M.; Tognazzo, S.; Teixeira, M. R.; Healey, S.; Investigators, K.; Olswold, C.; Guidugli, L.; Lindor, N.; Slager, S.; Szabo, C. I.; Vijai, J.; Robson, M.; Kauff, N.; Zhang, L.; Rau-Murthy, R.; Fink-Retter, A.; Singer, C. F.; Rappaport, C.; Geschwantler Kaulich, D.; Pfeiler, G.; Tea, M. K.; Berger, A.; Phelan, C. M.; Greene, M. H.; Mai, P. L.; Lejbkowicz, F.; Andrulis, I.; Mulligan, A. M.; Glendon, G.; Toland, A. E.; Bojesen, A.; Pedersen, I. S.; Sunde, L.; Thomassen, M.; Kruse, T. A.; Jensen, U. B.; Friedman, E.; Laitman, Y.; Shimon, S. P.; Simard, J.; Easton, D. F.; Offit, K.; Couch, F. J.; Chenevix-Trench, G.; Antoniou, A. C.; Benitez, J. (PLoS, 2014-04-01)
      Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with cancer risk in carriers of mutations in the high-penetrance susceptibility genes BRCA1 and ...
    • Lymphocyte telomere length is long in BRCA1 and BRCA2 mutation carriers regardless of cancer-affected status 

      Pooley, K. A.; McGuffog, L.; Barrowdale, D.; Frost, D.; Ellis, S. D.; Fineberg, E.; Platte, R.; Izatt, L.; Adlard, J.; Bardwell, J.; Brewer, Carole; Cole, T.; Cook, J.; Davidson, R.; Donaldson, A.; Dorkins, H.; Douglas, F.; Eason, J.; Houghton, C.; Kennedy, M. J.; McCann, E.; Miedzybrodzka, Z.; Murray, Anna; Porteous, M. E.; Rogers, M. T.; Side, L. E.; Tischkowitz, M.; Walker, L.; Hodgson, S.; Eccles, D. M.; Morrison, P. J.; Evans, D. G.; Eeles, R. A.; Antoniou, A. C.; Easton, D. F.; Dunning, A. M.; Embrace, (Cancer Epidemiol Biomarkers Prev, 2014-06-01)
      BACKGROUND: Telomere length has been linked to risk of common diseases, including cancer, and has previously been proposed as a biomarker for cancer risk. Germline BRCA1 and BRCA2 mutations predispose to breast, ovarian, ...
    • Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients 

      Broadbent, H.; Farran, E. K.; Chin, E.; Metcalfe, K.; Tassabehji, M.; Turnpenny, Peter D.; Sansbury, Francis H.; Meaburn, E.; Karmiloff-Smith, A. (BioMed Central, 2014-07-01)
      BACKGROUND: Williams syndrome (WS) is a rare neurodevelopmental disorder arising from a hemizygotic deletion of approximately 27 genes on chromosome 7, at locus 7q11.23. WS is characterised by an uneven cognitive profile, ...
    • GATA4 mutations are a cause of neonatal and childhood-onset diabetes. 

      Shaw-Smith, Charles; De Franco, Elisa; Lango Allen, H.; Batlle, M.; Flanagan, Sarah; Borowiec, M.; Taplin, C. E.; van Alfen-van der Velden, J.; Cruz-Rojo, J.; Perez de Nanclares, G.; Miedzybrodzka, Z.; Deja, G.; Wlodarska, I.; Mlynarski, W.; Ferrer, J.; Hattersley, Andrew T.; Ellard, Sian (American Diabetes Association, 2014-08)
      The GATA family zinc finger transcription factors GATA4 and GATA6 are known to play important roles in the development of the pancreas. In mice, both Gata4 and Gata6 are required for pancreatic development. In humans, GATA6 ...
    • Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study 

      Bancroft, E. K.; Page, E. C.; Castro, E.; Lilja, H.; Vickers, A.; Sjoberg, D.; Assel, M.; Foster, C. S.; Mitchell, G.; Drew, K.; Maehle, L.; Johannsson, O.; Khoo, V.; Kote-Jarai, Z.; Lubinski, J.; Axcrona, U.; Melia, J.; McKinley, J.; Mitra, A. V.; Moynihan, C.; Rennert, G.; Axcrona, K.; Suri, M.; Wilson, P.; Killick, E.; Impact Collaborators; Moss, S.; Eeles, R. A.; Evans, D. G.; Bulman, B.; Eccles, D.; McBride, D.; van Asperen, C.; Vasen, H.; Kiemeney, L. A.; Ringelberg, J.; Cybulski, C.; Wokolorczyk, D.; Selkirk, C.; Hulick, P. J.; Bojesen, A.; Skytte, A. B.; Lam, J.; Taylor, L.; Oldenburg, R.; Cremers, R.; Verhaegh, G.; van Zelst-Stams, W. A.; Oosterwijk, J. C.; Blanco, I.; Salinas, M.; Cook, J.; Rosario, D. J.; Buys, S.; Conner, T.; Ausems, M. G.; Ong, K. R.; Hoffman, J.; Domchek, S.; Powers, J.; Teixeira, M. R.; Maia, S.; Foulkes, W. D.; Taherian, N.; Ruijs, M.; Helderman-van den Enden, A. T.; Izatt, L.; Davidson, R.; Adank, M. A.; Walker, L.; Schmutzler, R.; Tucker, K.; Kirk, J.; Hodgson, S.; Harris, M.; Douglas, F.; Lindeman, G. J.; Zgajnar, J.; Tischkowitz, M.; Clowes, V. E.; Susman, R.; Ramon y Cajal, T.; Patcher, N.; Gadea, N.; Spigelman, A.; van Os, T.; Liljegren, A.; Side, L.; Brewer, Carole; Brady, A. F.; Donaldson, A.; Stefansdottir, V.; Friedman, E.; Chen-Shtoyerman, R.; Amor, D. J.; Copakova, L.; Barwell, J.; Giri, V. N.; Murthy, V.; Nicolai, N.; Teo, S. H.; Greenhalgh, L.; Strom, S.; Henderson, A.; McGrath, John S; Gallagher, D.; Aaronson, N.; Ardern-Jones, Angus; Bangma, C.; Dearnaley, D.; Costello, P.; Eyfjord, J.; Rothwell, J.; Falconer, A.; Gronberg, H.; Hamdy, F. C. (Elsevier, 2014-09-01)
      BACKGROUND: Men with germline breast cancer 1, early onset (BRCA1) or breast cancer 2, early onset (BRCA2) gene mutations have a higher risk of developing prostate cancer (PCa) than noncarriers. IMPACT (Identification of ...
    • Factors determining penetrance in familial atypical haemolytic uraemic syndrome 

      Sansbury, Francis H.; Cordell, H. J.; Bingham, Coralie; Bromilow, Gilly; Nicholls, Anthony; Powell, Roy; Shields, Beverley M; Smyth, Lucy; Warwicker, P.; Strain, L.; Wilson, V.; Goodship, J. A.; Goodship, T. H.; Turnpenny, Peter D. (BMJ, 2014-11-01)
      BACKGROUND: Inherited abnormalities of complement are found in approximately 60% of patients with atypical haemolytic uraemic syndrome (aHUS). Such abnormalities are not fully penetrant. In this study, we have estimated ...
    • Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability 

      Hunt, D.; Leventer, R. J.; Simons, C.; Taft, R.; Swoboda, K. J.; Gawne-Cain, M.; D. D. D. study; Magee, A. C.; Turnpenny, Peter D.; Baralle, D. (BMJ, 2014-12-01)
      BACKGROUND: De novo mutations are emerging as an important cause of neurocognitive impairment, and whole exome sequencing of case-parent trios is a powerful way of detecting them. Here, we report the findings in four such ...
    • Variable Phenotype of Diabetes Mellitus in Siblings with a Homozygous PTF1A Enhancer Mutation. 

      Gonc, E. N.; Ozon, A.; Alikasifoglu, A.; Haliloğlu, M.; Ellard, Sian; Shaw-Smith, Charles; Kandemir, N. (Karger, 2015)
      Neonatal diabetes is a rare form of diabetes, characterized by onset in the first 6 months of life. A number of cases are due to pancreas agenesis. Recently, PTF1A enhancer mutations have been shown to cause neonatal ...
    • Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers 

      Peterlongo, P.; Chang-Claude, J.; Moysich, K. B.; Rudolph, A.; Schmutzler, R. K.; Simard, J.; Soucy, P.; Eeles, R. A.; Easton, D. F.; Hamann, U.; Wilkening, S.; Chen, B.; Rookus, M. A.; Schmidt, M. K.; van der Baan, F. H.; Spurdle, A. B.; Walker, L. C.; Lose, F.; Maia, A. T.; Montagna, M.; Matricardi, L.; Lubinski, J.; Jakubowska, A.; Gomez Garcia, E. B.; Olopade, O. I.; Nussbaum, R. L.; Nathanson, K. L.; Domchek, S. M.; Rebbeck, T. R.; Arun, B. K.; Karlan, B. Y.; Orsulic, S.; Lester, J.; Chung, W. K.; Miron, A.; Southey, M. C.; Goldgar, D. E.; Buys, S. S.; Janavicius, R.; Dorfling, C. M.; van Rensburg, E. J.; Ding, Y. C.; Neuhausen, S. L.; Hansen, T. V.; Gerdes, A. M.; Ejlertsen, B.; Jonson, L.; Osorio, A.; Martinez-Bouzas, C.; Benitez, J.; Conway, E. E.; Blazer, K. R.; Weitzel, J. N.; Manoukian, S.; Peissel, B.; Zaffaroni, D.; Scuvera, G.; Barile, M.; Ficarazzi, F.; Mariette, F.; Fortuzzi, S.; Viel, A.; Giannini, G.; Papi, L.; Martayan, A.; Tibiletti, M. G.; Radice, P.; Vratimos, A.; Fostira, F.; Garber, J. E.; Donaldson, A.; Brewer, Carole; Foo, C.; Evans, D. G.; Frost, D.; Eccles, D.; Brady, A.; Cook, J.; Tischkowitz, M.; Adlard, J.; Barwell, J.; Walker, L.; Izatt, L.; Side, L. E.; Kennedy, M. J.; Rogers, M. T.; Porteous, M. E.; Morrison, P. J.; Platte, R.; Davidson, R.; Hodgson, S. V.; Ellis, S.; Cole, T.; Embrace,; Godwin, A. K.; Claes, K.; Van Maerken, T.; Meindl, A.; Gehrig, A.; Sutter, C.; Engel, C.; Niederacher, D.; Steinemann, D.; Plendl, H.; Kast, K.; Rhiem, K.; Ditsch, N.; Arnold, N.; Varon-Mateeva, R.; Wappenschmidt, B.; Wang-Gohrke, S.; Bressac-de Paillerets, B.; Buecher, B.; Delnatte, C.; Houdayer, C.; Stoppa-Lyonnet, D.; Damiola, F.; Coupier, I.; Barjhoux, L.; Venat-Bouvet, L.; Golmard, L.; Boutry-Kryza, N.; Sinilnikova, O. M.; Caron, O.; Pujol, P.; Mazoyer, S.; Belotti, M.; Gemo Study Collaborators; Piedmonte, M.; Friedlander, M. L.; Rodriguez, G. C.; Copeland, L. J.; de la Hoya, M.; Segura, P. P.; Nevanlinna, H.; Aittomaki, K.; van Os, T. A.; Meijers-Heijboer, H. E.; van der Hout, A. H.; Vreeswijk, M. P.; Hoogerbrugge, N.; Ausems, M. G.; van Doorn, H. C.; Collee, J. M.; Hebon,; Olah, E.; Diez, O.; Blanco, I.; Lazaro, C.; Brunet, J.; Feliubadalo, L.; Cybulski, C.; Gronwald, J.; Durda, K.; Jaworska-Bieniek, K.; Sukiennicki, G.; Arason, A.; Chiquette, J.; Teixeira, M. R.; Olswold, C.; Couch, F. J.; Lindor, N. M.; Wang, X.; Szabo, C. I.; Offit, K.; Corines, M.; Jacobs, L.; Robson, M. E.; Zhang, L.; Joseph, V.; Berger, A.; Singer, C. F.; Rappaport, C.; Kaulich, D. G.; Pfeiler, G.; Tea, M. K.; Phelan, C. M.; Greene, M. H.; Mai, P. L.; Rennert, G.; Mulligan, A. M.; Glendon, G.; Tchatchou, S.; Andrulis, I. L.; Toland, A. E.; Bojesen, A.; Pedersen, I. S.; Thomassen, M.; Jensen, U. B.; Laitman, Y.; Rantala, J.; von Wachenfeldt, A.; Ehrencrona, H.; Askmalm, M. S.; Borg, A.; Kuchenbaecker, K. B.; McGuffog, L.; Barrowdale, D.; Healey, S.; Lee, A.; Pharoah, P. D.; Chenevix-Trench, G.; K. ConFab Investigators; Antoniou, A. C.; Friedman, E. (Cancer Epidemiol Biomarkers Prev, 2015-01-01)
      BACKGROUND: BRCA1 and BRCA2 mutation carriers are at substantially increased risk for developing breast and ovarian cancer. The incomplete penetrance coupled with the variable age at diagnosis in carriers of the same ...
    • Polymorphisms near TBX5 and GDF7 are associated with increased risk for Barrett's esophagus 

      Palles, C.; Chegwidden, L.; Li, X.; Findlay, J. M.; Farnham, G.; Castro Giner, F.; Peppelenbosch, M. P.; Kovac, M.; Adams, C. L.; Prenen, H.; Briggs, S.; Harrison, R.; Sanders, S.; MacDonald, D.; Haigh, C.; Tucker, A.; Love, S.; Nanji, M.; deCaestecker, J.; Ferry, D.; Rathbone, B.; Hapeshi, J.; Barr, H.; Moayyedi, P.; Watson, P.; Zietek, B.; Maroo, N.; Gay, L.; Underwood, T.; Boulter, L.; McMurtry, H.; Monk, D.; Patel, P.; Ragunath, K.; Al Dulaimi, D.; Murray, I.; Koss, K.; Veitch, A.; Trudgill, N.; Nwokolo, C.; Rembacken, B.; Atherfold, P.; Green, E.; Ang, Y.; Kuipers, E. J.; Chow, W.; Paterson, S.; Kadri, S.; Beales, I.; Grimley, C.; Mullins, P.; Beckett, C.; Farrant, M.; Dixon, A.; Kelly, S.; Johnson, Matthew; Wajed, Shahjehan; Dhar, A.; Sawyer, E.; Roylance, R.; Onstad, L.; Gammon, M. D.; Corley, D. A.; Shaheen, N. J.; Bird, N. C.; Hardie, L. J.; Reid, B. J.; Ye, W.; Liu, G.; Romero, Y.; Bernstein, L.; Wu, A. H.; Casson, A. G.; Fitzgerald, R.; Whiteman, D. C.; Risch, H. A.; Levine, D. M.; Vaughan, T. L.; Verhaar, A. P.; van den Brande, J.; Toxopeus, E. L.; Spaander, M. C.; Wijnhoven, B. P.; van der Laan, L. J.; Krishnadath, K.; Wijmenga, C.; Trynka, G.; McManus, R.; Reynolds, J. V.; O'Sullivan, J.; MacMathuna, P.; McGarrigle, S. A.; Kelleher, D.; Vermeire, S.; Cleynen, I.; Bisschops, R.; Tomlinson, I.; Jankowski, J. (Elsevier, 2015-02-01)
      BACKGROUND & AIMS: Barrett's esophagus (BE) increases the risk of esophageal adenocarcinoma (EAC). We found the risk to be BE has been associated with single nucleotide polymorphisms (SNPs) on chromosome 6p21 (within the ...
    • An exome sequencing strategy to diagnose lethal autosomal recessive disorders 

      Ellard, Sian; Kivuva, Emma; Turnpenny, Peter D.; Stals, Karen; Johnson, Matthew; Xie, W.; Caswell, R.; Lango Allen, H. (Nature, 2015-03-01)
      Rare disorders resulting in prenatal or neonatal death are genetically heterogeneous. For some conditions, affected fetuses can be diagnosed by ultrasound scan, but this is not usually possible until mid-gestation. There ...
    • An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers 

      Blein, S.; Bardel, C.; Danjean, V.; McGuffog, L.; Healey, S.; Barrowdale, D.; Lee, A.; Dennis, J.; Kuchenbaecker, K. B.; Soucy, P.; Terry, M. B.; Chung, W. K.; Goldgar, D. E.; Buys, S. S.; Breast Cancer Family, Registry; Janavicius, R.; Tihomirova, L.; Tung, N.; Dorfling, C. M.; van Rensburg, E. J.; Neuhausen, S. L.; Ding, Y. C.; Gerdes, A. M.; Ejlertsen, B.; Nielsen, F. C.; Hansen, T. V.; Osorio, A.; Benitez, J.; Conejero, R. A.; Segota, E.; Weitzel, J. N.; Thelander, M.; Peterlongo, P.; Radice, P.; Pensotti, V.; Dolcetti, R.; Bonanni, B.; Peissel, B.; Zaffaroni, D.; Scuvera, G.; Manoukian, S.; Varesco, L.; Capone, G. L.; Papi, L.; Ottini, L.; Yannoukakos, D.; Konstantopoulou, I.; Garber, J.; Hamann, U.; Donaldson, A.; Brady, A.; Brewer, Carole; Foo, C.; Evans, D. G.; Frost, D.; Eccles, D.; Embrace,; Douglas, F.; Cook, J.; Adlard, J.; Barwell, J.; Walker, L.; Izatt, L.; Side, L. E.; Kennedy, M. J.; Tischkowitz, M.; Rogers, M. T.; Porteous, M. E.; Morrison, P. J.; Platte, R.; Eeles, R.; Davidson, R.; Hodgson, S.; Cole, T.; Godwin, A. K.; Isaacs, C.; Claes, K.; De Leeneer, K.; Meindl, A.; Gehrig, A.; Wappenschmidt, B.; Sutter, C.; Engel, C.; Niederacher, D.; Steinemann, D.; Plendl, H.; Kast, K.; Rhiem, K.; Ditsch, N.; Arnold, N.; Varon-Mateeva, R.; Schmutzler, R. K.; Preisler-Adams, S.; Markov, N. B.; Wang-Gohrke, S.; de Pauw, A.; Lefol, C.; Lasset, C.; Leroux, D.; Rouleau, E.; Damiola, F.; Gemo Study Collaborators; Dreyfus, H.; Barjhoux, L.; Golmard, L.; Uhrhammer, N.; Bonadona, V.; Sornin, V.; Bignon, Y. J.; Carter, J.; Van Le, L.; Piedmonte, M.; DiSilvestro, P. A.; de la Hoya, M.; Caldes, T.; Nevanlinna, H.; Aittomaki, K.; Jager, A.; van den Ouweland, A. M.; Kets, C. M.; Aalfs, C. M.; van Leeuwen, F. E.; Hogervorst, F. B.; Meijers-Heijboer, H. E.; Hebon,; Oosterwijk, J. C.; van Roozendaal, K. E.; Rookus, M. A.; Devilee, P.; van der Luijt, R. B.; Olah, E.; Diez, O.; Teule, A.; Lazaro, C.; Blanco, I.; Del Valle, J.; Jakubowska, A.; Sukiennicki, G.; Gronwald, J.; Lubinski, J.; Durda, K.; Jaworska-Bieniek, K.; Agnarsson, B. A.; Maugard, C.; Amadori, A.; Montagna, M.; Teixeira, M. R.; Spurdle, A. B.; Foulkes, W.; Olswold, C.; Lindor, N. M.; Pankratz, V. S.; Szabo, C. I.; Lincoln, A.; Jacobs, L.; Corines, M.; Robson, M.; Vijai, J.; Berger, A.; Fink-Retter, A.; Singer, C. F.; Rappaport, C.; Kaulich, D. G.; Pfeiler, G.; Tea, M. K.; Greene, M. H.; Mai, P. L.; Rennert, G.; Imyanitov, E. N.; Mulligan, A. M.; Glendon, G.; Andrulis, I. L.; Tchatchou, S.; Toland, A. E.; Pedersen, I. S.; Thomassen, M.; Kruse, T. A.; Jensen, U. B.; Caligo, M. A.; Friedman, E.; Zidan, J.; Laitman, Y.; Lindblom, A.; Melin, B.; Arver, B.; Loman, N.; Rosenquist, R.; Olopade, O. I.; Nussbaum, R. L.; Ramus, S. J.; Nathanson, K. L.; Domchek, S. M.; Rebbeck, T. R.; Arun, B. K.; Mitchell, G.; Karlan, B. Y.; Lester, J.; Orsulic, S.; Stoppa-Lyonnet, D.; Thomas, G.; Simard, J.; Couch, F. J.; Offit, K.; Easton, D. F.; Chenevix-Trench, G.; Antoniou, A. C.; Mazoyer, S.; Phelan, C. M.; Sinilnikova, O. M.; Cox, D. G. (BioMed Central, 2015-04-01)
      INTRODUCTION: Individuals carrying pathogenic mutations in the BRCA1 and BRCA2 genes have a high lifetime risk of breast cancer. BRCA1 and BRCA2 are involved in DNA double-strand break repair, DNA alterations that can be ...
    • Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer 

      Rebbeck, T. R.; Mitra, N.; Wan, F.; Sinilnikova, O. M.; Healey, S.; McGuffog, L.; Mazoyer, S.; Chenevix-Trench, G.; Easton, D. F.; Antoniou, A. C.; Nathanson, K. L.; Cimba Consortium; Laitman, Y.; Kushnir, A.; Paluch-Shimon, S.; Berger, R.; Zidan, J.; Friedman, E.; Ehrencrona, H.; Stenmark-Askmalm, M.; Einbeigi, Z.; Loman, N.; Harbst, K.; Rantala, J.; Melin, B.; Huo, D.; Olopade, O. I.; Seldon, J.; Ganz, P. A.; Nussbaum, R. L.; Chan, S. B.; Odunsi, K.; Gayther, S. A.; Domchek, S. M.; Arun, B. K.; Lu, K. H.; Mitchell, G.; Karlan, B. Y.; Walsh, C.; Lester, J.; Godwin, A. K.; Pathak, H.; Ross, E.; Daly, Mark B.; Whittemore, A. S.; John, E. M.; Miron, A.; Terry, M. B.; Chung, W. K.; Goldgar, D. E.; Buys, S. S.; Janavicius, R.; Tihomirova, L.; Tung, N.; Dorfling, C. M.; van Rensburg, E. J.; Steele, L.; Neuhausen, S. L.; Ding, Y. C.; Ejlertsen, B.; Gerdes, A. M.; Hansen, Tv; Ramon y Cajal, T.; Osorio, A.; Benitez, J.; Godino, J.; Tejada, M. I.; Duran, M.; Weitzel, J. N.; Bobolis, K. A.; Sand, S. R.; Fontaine, A.; Savarese, A.; Pasini, B.; Peissel, B.; Bonanni, B.; Zaffaroni, D.; Vignolo-Lutati, F.; Scuvera, G.; Giannini, G.; Bernard, L.; Genuardi, M.; Radice, P.; Dolcetti, R.; Manoukian, S.; Pensotti, V.; Gismondi, V.; Yannoukakos, D.; Fostira, F.; Garber, J.; Torres, D.; Rashid, M. U.; Hamann, U.; Peock, S.; Frost, D.; Platte, R.; Evans, D. G.; Eeles, R.; Davidson, R.; Eccles, D.; Cole, T.; Cook, J.; Brewer, Carole; Hodgson, S.; Morrison, P. J.; Walker, L.; Porteous, M. E.; Kennedy, M. J.; Izatt, L.; Adlard, J.; Donaldson, A.; Ellis, S.; Sharma, P.; Schmutzler, R. K.; Wappenschmidt, B.; Becker, A.; Rhiem, K.; Hahnen, E.; Engel, C.; Meindl, A.; Engert, S.; Ditsch, N.; Arnold, N.; Plendl, H. J.; Mundhenke, C.; Niederacher, D.; Fleisch, M.; Sutter, C.; Bartram, C. R.; Dikow, N.; Wang-Gohrke, S.; Gadzicki, D.; Steinemann, D.; Kast, K.; Beer, M.; Varon-Mateeva, R.; Gehrig, A.; Weber, B. H.; Stoppa-Lyonnet, D.; Sinilnikova, O. M.; Mazoyer, S.; Houdayer, C.; Belotti, M.; Gauthier-Villars, M.; Damiola, F.; Boutry-Kryza, N.; Lasset, C.; Sobol, H.; Peyrat, J. P.; Muller, D.; Fricker, J. P.; Collonge-Rame, M. A.; Mortemousque, I.; Nogues, C.; Rouleau, E.; Isaacs, C.; De Paepe, A.; Poppe, B.; Claes, K.; De Leeneer, K.; Piedmonte, M.; Rodriguez, G.; Wakely, K.; Boggess, J.; Blank, S. V.; Basil, J.; Azodi, M.; Phillips, K. A.; Caldes, T.; de la Hoya, M.; Romero, A.; Nevanlinna, H.; Aittomaki, K.; van der Hout, A. H.; Hogervorst, F. B.; Verhoef, S.; Collee, J. M.; Seynaeve, C.; Oosterwijk, J. C.; Gille, J. J.; Wijnen, J. T.; Gomez Garcia, E. B.; Kets, C. M.; Ausems, M. G.; Aalfs, C. M.; Devilee, P.; Mensenkamp, A. R.; Kwong, A.; Olah, E.; Papp, J.; Diez, O.; Lazaro, C.; Darder, E.; Blanco, I.; Salinas, M.; Jakubowska, A.; Lubinski, J.; Gronwald, J.; Jaworska-Bieniek, K.; Durda, K.; Sukiennicki, G.; Huzarski, T.; Byrski, T.; Cybulski, C.; Toloczko-Grabarek, A.; Zlowocka-Perlowska, E.; Menkiszak, J.; Arason, A.; Barkardottir, R. B.; Simard, J.; Laframboise, R.; Montagna, M.; Agata, S.; Alducci, E.; Peixoto, A.; Teixeira, M. R.; Spurdle, A. B.; Lee, M. H.; Park, S. K.; Kim, S. W.; Friebel, T. M.; Couch, F. J.; Lindor, N. M.; Pankratz, V. S.; Guidugli, L.; Wang, X.; Tischkowitz, M.; Foretova, L.; Vijai, J.; Offit, K.; Robson, M.; Rau-Murthy, R.; Kauff, N.; Fink-Retter, A.; Singer, C. F.; Rappaport, C.; Gschwantler-Kaulich, D.; Pfeiler, G.; Tea, M. K.; Berger, A.; Greene, M. H.; Mai, P. L.; Imyanitov, E. N.; Toland, A. E.; Senter, L.; Bojesen, A.; Pedersen, I. S.; Skytte, A. B.; Sunde, L.; Thomassen, M.; Moeller, S. T.; Kruse, T. A.; Jensen, U. B.; Caligo, M. A.; Aretini, P.; Teo, S. H.; Selkirk, C. G.; Hulick, P. J.; Andrulis, I. (JAMA, 2015-04-07)
      IMPORTANCE: Limited information about the relationship between specific mutations in BRCA1 or BRCA2 (BRCA1/2) and cancer risk exists. OBJECTIVE: To identify mutation-specific cancer risks for carriers of BRCA1/2. DESIGN, ...
    • Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance 

      Barber, J. C.; Rosenfeld, J. A.; Graham, J. M.; Kramer, N.; Lachlan, K. L.; Bateman, M. S.; Collinson, M. N.; Stadheim, B. F.; Turner, Claire L.; Gauthier, J. N.; Reimschisel, T. E.; Qureshi, A. M.; Dabir, T. A.; Humphreys, M. W.; Marble, M.; Huang, T.; Beal, S. J.; Massiah, J.; Taylor, E. J.; Wynn, S. L. (Wiley, 2015-06-11)
      The 8p23.1 duplication syndrome (8p23.1 DS) is a recurrent genomic condition with an estimated prevalence of 1 in 58,000. The core 3.68 Mb duplication contains 32 genes of which five are currently candidates for the ...
    • Total anomalous pulmonary venous drainage in a patient with Koolen syndrome (del17q21.31) 

      Osio, Deborah; Jain, N.; Archer, N.; Turnpenny, Peter D. (Wolters Kluwer, 2015-07-01)
    • Effect of BRCA Mutations on Metastatic Relapse and Cause-specific Survival After Radical Treatment for Localised Prostate Cancer 

      Castro, E.; Goh, C.; Leongamornlert, D.; Saunders, E.; Tymrakiewicz, M.; Dadaev, T.; Govindasami, K.; Guy, M.; Ellis, S.; Frost, D.; Bancroft, E.; Cole, T.; Tischkowitz, M.; Kennedy, M. J.; Eason, J.; Brewer, Carole; Evans, D. G.; Davidson, R.; Eccles, D.; Porteous, M. E.; Douglas, F.; Adlard, J.; Donaldson, A.; Antoniou, A. C.; Kote-Jarai, Z.; Easton, D. F.; Olmos, D.; Eeles, R. (Elsevier, 2015-08-01)
      BACKGROUND: Germline BRCA mutations are associated with worse prostate cancer (PCa) outcomes; however, the most appropriate management for mutation carriers has not yet been investigated. OBJECTIVE: To evaluate the response ...
    • Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure 

      Mulchandani, S.; Bhoj, E. J.; Luo, M.; Powell-Hamilton, N.; Jenny, K.; Gripp, K. W.; Elbracht, M.; Eggermann, T.; Turner, Claire L.; Temple, I. K.; Mackay, D. J.; Dubbs, H.; Stevenson, D. A.; Slattery, L.; Zackai, E. H.; Spinner, N. B.; Krantz, I. D.; Conlin, L. K. (Nature, 2015-08-06)
      PURPOSE: Maternal uniparental disomy of chromosome 20 (UPD(20)mat) has been reported in only four patients, three of whom also had mosaicism for complete or partial trisomy of chromosome 20. We sought to evaluate the ...
    • MFN2 deletion of exons 7 and 8: founder mutation in the UK population 

      Carr, A. S.; Polke, J. M.; Wilson, J.; Pelayo-Negro, A. L.; Laura, M.; Nanji, T.; Holt, J.; Vaughan, J.; Rankin, Julia; Sweeney, M. G.; Blake, J.; Houlden, H.; Reilly, M. M. (Wiley, 2015-08-21)
      Mitofusin 2 (MFN2) mutations are the most common cause of axonal Charcot-Marie-Tooth disease (CMT2). The majority are inherited in an autosomal dominant manner but recessive and semi-dominant kindreds have also been ...