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British Journal of Cancer, ISSN 0007-0920, 04/2013, Volume 108, Issue 8, pp. 1757 - 1764
Journal Article
by Thompson, Bryony A and Spurdle, Amanda B and Plazzer, John-Paul and Greenblatt, Marc S and Akagi, Kiwamu and Al-Mulla, Fahd and Bapat, Bharati and Bernstein, Inge and Capellá, Gabriel and den Dunnen, Johan T and du Sart, Desiree and Fabre, Aurelie and Farrell, Michael P and Farrington, Susan M and Frayling, Ian M and Frebourg, Thierry and Goldgar, David E and Heinen, Christopher D and Holinski-Feder, Elke and Kohonen-Corish, Maija and Robinson, Kristina Lagerstedt and Leung, Suet Yi and Martins, Alexana and Moller, Pal and Morak, Monika and Nystrom, Minna and Peltomaki, Paivi and Pineda, Marta and Qi, Ming and Ramesar, Rajkumar and Rasmussen, Lene Juel and Royer-Pokora, Brigitte and Scott, Rodney J and Sijmons, Rolf and Tavtigian, Sean V and Tops, Carli M and Weber, Thomas and Wijnen, Juul and Woods, Michael O and Macrae, Finlay and Genuardi, Maurizio and Castillejo, Adela and Sexton, Aienne and Chan, Anthony K. W and Viel, Alessana and Blanco, Amie and French, Amy and Laner, Aneas and Wagner, Anja and van den Ouweland, Ans and Mensenkamp, Arjen and Payá, Artemio and Betz, Beate and Redeker, Bert and Smith, Betsy and Espenschied, Carin and Cummings, Carole and Engel, Christoph and Fornes, Claudia and Valenzuela, Cristian and Alenda, Cristina and Buchanan, Daniel and Barana, Daniela and Konstantinova, Darina and Cairns, Dianne and Glaser, Elizabeth and Silva, Felipe and Lalloo, Fiona and Crucianelli, Francesca and Hogervorst, Frans and Casey, Graham and Tomlinson, Ian and Blanco, Ignacio and Villar, Isabel López and Garcia-Planells, Javier and Bigler, Jeanette and Shia, Jinru and Martinez-Lopez, Joaquin and Gille, Johan J. P and Hopper, John and Potter, John and Soto, José Luis and Kantelinen, Jukka and Ellis, Kate and Mann, Kirsty and Varesco, Liliana and Zhang, Liying and Le Marchand, Loic and Marafie, Makia J and Nordling, Margareta and Tibiletti, Maria Grazia and Kahan, Mariano Ariel and Ligtenberg, Marjolijn and Clendenning, Mark and Jenkins, Mark and Speevak, Marsha and Digweed, Martin and Kloor, Matthias and Hitchins, Megan and Myers, Megan and ... and InSiGHT and on behalf of InSiGHT and Sahlgrenska akademin and Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik and Göteborgs universitet and Gothenburg University and Institute of Biomedicine, Department of Medical and Clinical Genetics and Sahlgrenska Academy
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 2, pp. 107 - 115
Journal Article
by Mavaddat, N and Barrowdale, D and Anulis, I.L and Domchek, S.M and Eccles, D and Nevanlinna, H and Ramus, S.J and Spurdle, A and Robson, M and Sherman, M and Mulligan, A.M and Couch, F.J and Engel, C and McGuffog, L and Healey, S and Sinilnikova, O.M and Southey, M.C and Terry, M.B and Goldgar, D and O'Malley, F and John, E.M and Janavicius, R and Tihomirova, L and Hansen, T.V and Nielsen, F.C and Osorio, A and Stavropoulou, A and Benitez, J and Manoukian, S and Peissel, B and Barile, M and Volorio, S and Pasini, B and Dolcetti, R and Putignano, A.L and Ottini, L and Radice, P and Hamann, U and Rashid, M.U and Hogervorst, F.B.L and Kriege, M and Luijt, R.B. van der and Peock, S and Frost, D and Evans, D.G and Brewer, C and Walker, L and Rogers, M.T and Side, L.E and Houghton, C and Weaver, J and Godwin, A.K and Schmutzler, R.K and Wappenschmidt, B and Meindl, A and Kast, K and Arnold, N and Niederacher, D and Sutter, C and Deissler, H and Gadzicki, D and Preisler-Adams, S and Varon-Mateeva, R and Schonbuchner, I and Gevensleben, H and Stoppa-Lyonnet, D and Belotti, M and Barjhoux, L and Isaacs, C and Peshkin, B.N and Caldes, T and Hoya, M. de la and Canadas, C and Heikkinen, T and Heikkila, P and Aittomaki, K and Blanco, I and Lazaro, C and Brunet, J and Agnarsson, B.A and Arason, A and Barkardottir, R.B and Dumont, M and Simard, J and Montagna, M and Agata, S and D'Anea, E and Yan, M and Fox, S and Rebbeck, T.R and Rubinstein, W and Tung, N and Garber, J.E and Wang, X and Fredericksen, Z and Pankratz, V.S and Lindor, N.M and Szabo, C and Offit, K and Sakr, R and ... and kConFab Investigators and HEBON and EMBRACE and GEMO Study Collaborators and SWE-BRCA Collaborators and Consortium Investigators Modifiers and Consortium of Investigators of Modifiers of BRCA1/2 and for EMBRACE and for HEBON and for the Consortium of Investigators of Modifiers of BRCA1/2 and for SWE-BRCA Collaborators and for kConFab Investigators and for GEMO Study Collaborators and Onkologi och Patologi, MV and EpiHealth: Epidemiology for Health and Lund University and Oncology and Pathology, MV and Lunds universitet
Cancer Epidemiology, Biomarkers & Prevention, ISSN 1055-9965, 2012, Volume 21, Issue 1, pp. 134 - 147
Journal Article
Journal Article
Journal Article
Journal of the National Cancer Institute, ISSN 0027-8874, 07/1998, Volume 90, Issue 14, pp. 1039 - 1071
  A handbook of family cancer syndromes is presented. Included in the handbook are descriptions of, and symptoms and treatments for, cancers including Gorlin's... 
CUTANEOUS MALIGNANT-MELANOMA | ROTHMUND-THOMSON SYNDROME | ONCOLOGY | TUMOR-SUPPRESSOR GENE | PEUTZ-JEGHERS SYNDROME | LINE P53 MUTATIONS | RENAL-CELL-CARCINOMA | HEREDITARY MULTIPLE EXOSTOSES | ENDOCRINE NEOPLASIA TYPE-1 | DYSPLASTIC NEVUS SYNDROME | ADENOMATOUS POLYPOSIS | Familial diseases | Genetic aspects | Cancer | Heredity | Reference books
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 8/2014, Volume 16, Issue 8, pp. 588 - 593
Heterozygous loss-of-function (LOF) SMAD4 mutations are associated with juvenile polyposis syndrome (JP) and hereditary hemorrhagic telangiectasia (HHT). Some... 
juvenile polyposis | SMAD4 | HHT | connective tissue
Journal Article
Journal Article