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Journal of the National Cancer Institute, ISSN 0027-8874, 2015, Volume 107
BACKGROUND: Previous studies have reported a breast cancer (BC) risk reduction of approximately 50% after risk-reducing salpingo-oophorectomy (RRSO) in BRCA1/2... 
Journal Article
PLoS One, ISSN 1932-6203, 2015, Volume 10, Issue 4
General practitioners (GPs) are increasingly called upon to identify patients at risk for hereditary cancers, and their genetic competencies need to be... 
Journal Article
International Journal of Cancer, ISSN 0020-7136, 2015, Volume 136, pp. 668 - 677
Data on survival of BRCA1/2-associated primary breast cancer (PBC) patients who opt for subsequent contralateral risk-reducing mastectomy (CRRM) are scarce and... 
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 07/2013, Volume 50, Issue 7, pp. 463 - 472
Journal Article
Plos One, ISSN 1932-6203, 2015, Volume 10, Issue 4, p. e0122648
Journal Article
Cancer Epidemiology, Biomarkers & Prevention, ISSN 1055-9965, 2014, Volume 23, pp. 2482 - 2491
BACKGROUND: We aimed to quantify previously observed relatively high cancer risks in BRCA2 mutation carriers (BRCA2 carriers) older than 60 in the Northern... 
Journal Article
Circulation. Cardiovascular Genetics, ISSN 1942-325X, 2015, Volume 8, pp. 383 - 388
BACKGROUND: It has been shown that losartan reduces aortic dilatation in patients with Marfan syndrome. However, treatment response is highly variable. This... 
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2014, Volume 51, pp. 98 - 107
BACKGROUND: BRCA1 or BRCA2 mutations confer increased risks of breast and ovarian cancer, but risks have been found to vary across studies and populations.... 
Journal Article
by Hamdi, Y and Soucy, P and Kuchenbaeker, K.B and Pastinen, T and it, A and Lemacon, A and Adlard, J and Aittomaki, K and Anulis, I.L and Arason, A and Arnold, N and Arun, B.K and Azzollini, J and Bane, A and Barjhoux, L and Barrowdale, D and Benitez, J and Berthet, P and Blok, M.J and Bobolis, K and Bonadona, V and Bonanni, B and Bradbury, A.R and Brewer, C and Buecher, B and Buys, S.S and Caligo, M.A and Chiquette, J and Chung, W.K and Claes, K.B and Daly, M.B and Damiola, F and Davidson, R and Hoya, M. de la and Leeneer, K. De and Diez, O and Ding, Y.C and Dolcetti, R and Domchek, S.M and Dorfling, C.M and Eccles, D and Eeles, R and Einbeigi, Z and Ejlertsen, B and Engel, C and Evans, D and Feliubadalo, L and Foretova, L and Fostira, F and Foulkes, W.D and Fountzilas, G and Friedman, E and Frost, D and Ganschow, P and Ganz, P.A and Garber, J and Gayther, S.A and Gerdes, A.M and Glendon, G and Godwin, A.K and Goldgar, D.E and Greene, M.H and Gronwald, J and Hahnen, E and Hamann, U and Hansen, T.V and Hart, S and Hays, J.L and Hogervorst, F.B and Hulick, P.J and Imyanitov, E.N and Isaacs, C and Izatt, L and Jakubowska, A and James, P and Janavicius, R and Jensen, U.B and John, E.M and Joseph, V and Just, W and Kaczmarek, K and Karlan, B.Y and Kets, C.M and Kirk, J and Kriege, M and Laitman, Y and Laurent, M and Lazaro, C and Leslie, G and Lester, J and Lesueur, F and Liljegren, A and Loman, N and Loud, J.T and Manoukian, S and Mariani, M and Mazoyer, S and McGuffog, L and Meijers-Heijboer, H.E and Meindl, A and ... and KConFab Investigators and HEBON and EMBRACE and GEMO Study Collaborators and Onkologi och Patologi, MV and Lund University and Oncology and Pathology, MV and Lunds universitet
Breast Cancer Research and Treatment, ISSN 0167-6806, 2017, Volume 161, Issue 1, pp. 117 - 134
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 2013, Volume 369, pp. 1529 - 1536
Plastin 3 (PLS3), a protein involved in the formation of filamentous actin (F-actin) bundles, appears to be important in human bone health, on the basis of... 
Journal Article
The New England journal of medicine, ISSN 0028-4793, 2013, Volume 369, Issue 16, pp. 1529 - 1536
Plastin 3 (PLS3), a protein involved in the formation of filamentous actin (F-actin) bundles, appears to be important in human bone health, on the basis of... 
Journal Article
by Ramus, S.J and Antoniou, A.C and Kuchenbaecker, K.B and Soucy, P and Beesley, J and Chen, X and McGuffog, L and Sinilnikova, O.M and Healey, S and Barrowdale, D and Lee, A and Thomassen, M and Gerdes, A.M and Kruse, T.A and Jensen, U.B and Skytte, A.B and Caligo, M.A and Liljegren, A and Lindblom, A and Olsson, H and Kristoffersson, U and Stenmark-Askmalm, M and Melin, B and Swe, B and Domchek, S.M and Nathanson, K.L and Rebbeck, T.R and Jakubowska, A and Lubinski, J and Jaworska, K and Durda, K and Zlowocka, E and Gronwald, J and Huzarski, T and Byrski, T and Cybulski, C and Toloczko-Grabarek, A and Osorio, A and Benitez, J and Duran, M and Tejada, M.I and Hamann, U and Rookus, M and van Leeuwen, F.E and Aalfs, C.M and Meijers-Heijboer, H.E and Asperen, C.J. van and van Roozendaal, K.E and Hoogerbrugge-van der Linden, N and Collee, J.M and Kriege, M and van der Luijt, R.B and Hebon and Embrace and Peock, S and Frost, D and Ellis, S.D and Platte, R and Fineberg, E and Evans, D.G and Lalloo, F and Jacobs, C and Eeles, R and Adlard, J and Davidson, R and Eccles, D and Cole, T and Cook, J and Paterson, J and Douglas, F and Brewer, C and Hodgson, S and Morrison, P.J and Walker, L and Porteous, M.E and Kennedy, M.J and Pathak, H and Godwin, A.K and Stoppa-Lyonnet, D and Caux-Moncoutier, V and de Pauw, A and Gauthier-Villars, M and Mazoyer, S and Leone, M and Calender, A and Lasset, C and Bonadona, V and Hardouin, A and Berthet, P and Bignon, Y.J and Uhrhammer, N and Faivre, L and Loustalot, C and Gemo and Buys, S and Daly, M and Miron, A and Terry, M.B and Chung, W.K and John, E.M and ... and KConFab and EMBRACE and Consortium Investigators Modifiers and GEMO and HEBON and Ocgn and SWE-BRCA and Medicinska fakulteten and Institutionen för strålningsvetenskaper and Onkologi and Umeå universitet
Human Mutation, ISSN 1059-7794, 2012, Volume 33, Issue 4, pp. 690 - 702
Germline mutations in BRCA1 and BRCA2 are associated with increased risks of breast and ovarian cancer. A genome-wide association study (GWAS) identified six... 
association | BRCA1 | SNP | BRCA2 | ovarian cancer | GENETICS & HEREDITY | Càncer de mama | Càncer d'ovari | Breast cancer | Ovarian cancer | Clinical Medicine | Medical and Health Sciences | Medicin och hälsovetenskap | Cancer and Oncology | Klinisk medicin | Cancer och onkologi
Journal Article
by Blanco, I and Kuchenbaecker, K and Cuaas, D and Wang, X and Barrowdale, D and Garibay, G.R. de and Librado, P and Sanchez-Gracia, A and Rozas, J and Bonifaci, N and McGuffog, L and Pankratz, V.S and Islam, A and Mateo, F and Berenguer, A and Petit, A and Catala, I and Brunet, J and Feliubadalo, L and Tornero, E and Benitez, J and Osorio, A and Ramon Y Cajal, T and Nevanlinna, H and Aittomaki, K and Arun, B.K and Toland, A.E and Karlan, B.Y and Walsh, C and Lester, J and Greene, M.H and Mai, P.L and Nussbaum, R.L and Anulis, I.L and Domchek, S.M and Nathanson, K.L and Rebbeck, T.R and Barkardottir, R.B and Jakubowska, A and Lubinski, J and Durda, K and Jaworska-Bieniek, K and Claes, K and Maerken, T. Van and Diez, O and Hansen, T.V and Jonson, L and Gerdes, A.M and Ejlertsen, B and Hoya, M. de la and Caldes, T and Dunning, A.M and Oliver, C and Fineberg, E and Cook, M and Peock, S and McCann, E and Murray, A and Jacobs, C and Pichert, G and Lalloo, F and Chu, C and Dorkins, H and Paterson, J and Ong, K.R and Teixeira, M.R and Hogervorst, F.B and Hout, A.H. van der and Seynaeve, C and Luijt, R.B. van der and Ligtenberg, M.J and Devilee, P and Wijnen, J.T and Rookus, M.A and Meijers-Heijboer, H.E and Blok, M.J and Ouweland, A.M. van den and Aalfs, C.M and Roiguez, G.C and Phillips, K.A and Piedmonte, M and Nerenstone, S.R and Bae-Jump, V.L and O'Malley, D.M and Ratner, E.S and Schmutzler, R.K and Wappenschmidt, B and Rhiem, K and Engel, C and Meindl, A and Ditsch, N and Arnold, N and Plendl, H.J and Niederacher, D and Sutter, C and Wang-Gohrke, S and Steinemann, D and Preisler-Adams, S and Kast, K and Varon-Mateeva, R and ... and Onkologi och Patologi, MV and Oncology and Pathology, Kamprad Lab and Lund University and Oncology and Pathology, MV and Lunds universitet and Onkologi och Patologi, Kampradlab
Plos One, ISSN 1932-6203, 2015, Volume 10, Issue 4, p. e0120020
While interplay between BRCA1 and AURKA-RHAMM-TPX2-TUBG1 regulates mammary epithelial polarization, common genetic variation in HMMR (gene product RHAMM) may... 
Clinical Medicine | Medical and Health Sciences | Klinisk medicin | Cancer and Oncology | Medicin och hälsovetenskap | Cancer och onkologi
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2013, Volume 50, pp. 463 - 472
BACKGROUND: Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its first description in 2001 several case reports... 
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2013, Volume 50, Issue 7, pp. 463 - 472
Background: Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its first description in 2001 several case reports... 
Journal Article
by Blein, S and Bardel, C and Danjean, V and McGuffog, L and Healey, S and Barrowdale, D and Lee, A and Dennis, J and Kuchenbaecker, K.B and Soucy, P and Terry, M.B and Chung, W.K and Goldgar, D.E and Buys, S.S and Janavicius, R and Tihomirova, L and Tung, N and Dorfling, C.M and Rensburg, E.J. van and Neuhausen, S.L and Ding, Y.C and Gerdes, A.M and Ejlertsen, B and Nielsen, F.C and Hansen, T.V and Osorio, A and Benitez, J and Conejero, R.A and Segota, E and Weitzel, J.N and Thelander, M and Peterlongo, P and Radice, P and Pensotti, V and Dolcetti, R and Bonanni, B and Peissel, B and Zaffaroni, D and Scuvera, G and Manoukian, S and Varesco, L and Capone, G.L and Papi, L and Ottini, L and Yannoukakos, D and Konstantopoulou, I and Garber, J and Hamann, U and Donaldson, A and Brady, A and Brewer, C and Foo, C and Evans, D.G and Frost, D and Eccles, D and Douglas, F and Cook, J and Adlard, J and Barwell, J and Walker, L and Izatt, L and Side, L.E and Kennedy, M.J and Tischkowitz, M and Rogers, M.T and Porteous, M.E and Morrison, P.J and Platte, R and Eeles, R and Davidson, R and Hodgson, S and Cole, T and Godwin, A.K and Isaacs, C and Claes, K and Leeneer, K. De and Meindl, A and Gehrig, A and Wappenschmidt, B and Sutter, C and Engel, C and Niederacher, D and Steinemann, D and Plendl, H and Kast, K and Rhiem, K and Ditsch, N and Arnold, N and Varon-Mateeva, R and Schmutzler, R.K and Preisler-Adams, S and Markov, N.B and Wang-Gohrke, S and Pauw, A. de and Lefol, C and Lasset, C and Leroux, D and Rouleau, E and Damiola, F and yfus, H and ... and Oncology and Pathology, Kamprad Lab and Lund University and Lunds universitet and Onkologi och Patologi, Kampradlab
Breast Cancer Research, ISSN 1465-5411, 2015, Volume 17, Issue 1, p. 61
INTRODUCTION: Individuals carrying pathogenic mutations in the BRCA1 and BRCA2 genes have a high lifetime risk of breast cancer. BRCA1 and BRCA2 are involved... 
Clinical Medicine | Medical and Health Sciences | Klinisk medicin | Cancer and Oncology | Medicin och hälsovetenskap | Cancer och onkologi
Journal Article