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British Journal of Cancer, ISSN 0007-0920, 2013, Volume 108, pp. 2172 - 2177
Journal Article
Familial Cancer, ISSN 1389-9600, 2017, Volume 16, pp. 271 - 277
Since the 1980s the genetic cause of many hereditary tumor syndromes has been elucidated. As a consequence, carriers of a deleterious mutation in these genes... 
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
by Vigorito, E and Kuchenbaecker, K.B and Beesley, J and Adlard, J and Agnarsson, B.A and Anulis, I.L and Arun, B.K and Barjhoux, L and Belotti, M and Benitez, J and Berger, A and Bojesen, A and Bonanni, B and Brewer, C and Caldes, T and Caligo, M.A and Campbell, I and Chan, S.B and Claes, K.B and Cohn, D.E and Cook, J and Daly, M.B and Damiola, F and Davidson, R and Pauw, A. de and Delnatte, C and Diez, O and Domchek, S.M and Dumont, M and Durda, K and Dworniczak, B and Easton, D.F and Eccles, D and Edwinsdotter Ardnor, C and Eeles, R and Ejlertsen, B and Ellis, S and Evans, D.G and Feliubadalo, L and Fostira, F and Foulkes, W.D and Friedman, E and Frost, D and Gaddam, P and Ganz, P.A and Garber, J and Garcia-Barberan, V and Gauthier-Villars, M and Gehrig, A and Gerdes, A.M and Giraud, S and Godwin, A.K and Goldgar, D.E and Hake, C.R and Hansen, T.V and Healey, S and Hodgson, S and Hogervorst, F.B and Houdayer, C and Hulick, P.J and Imyanitov, E.N and Isaacs, C and Izatt, L and Izquierdo, A and Jacobs, L and Jakubowska, A and Janavicius, R and Jaworska-Bieniek, K and Jensen, U.B and John, E.M and Vijai, J and Karlan, B.Y and Kast, K and Khan, S and Kwong, A and Laitman, Y and Lester, J and Lesueur, F and Liljegren, A and Lubinski, J and Mai, P.L and Manoukian, S and Mazoyer, S and Meindl, A and Mensenkamp, A.R and Montagna, M and Nathanson, K.L and Neuhausen, S.L and Nevanlinna, H and Niederacher, D and Olah, E and Olopade, O.I and Ong, K.R and Osorio, A and Park, S.K and Paulsson-Karlsson, Y and Pedersen, I.S and Peissel, B and Peterlongo, P and et al and Kconfab Investigators and Medicinska fakulteten and Institutionen för strålningsvetenskaper and Onkologi and Umeå universitet
Plos One, ISSN 1932-6203, 2016, Volume 11, Issue 7, p. e0158801
Journal Article
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 Southey, M.C and Goldgar, D.E and Winqvist, R and Pylkas, K and Couch, F and Tischkowitz, M and Foulkes, W.D and Dennis, J and Michailidou, K and Rensburg, E.J. van and Heikkinen, T and Nevanlinna, H and Hopper, J.L and Dork, T and Claes, K.B and Reis-Filho, J and Teo, Z.L and Radice, P and Catucci, I and Peterlongo, P and Tsimiklis, H and Odefrey, F.A and Dowty, J.G and Schmidt, M.K and Broeks, A and Hogervorst, F.B and Verhoef, S and Carpenter, J and Clarke, C and Scott, R.J and Fasching, P.A and Haeberle, L and Ekici, A.B and Beckmann, M.W and Peto, J and Dos-Santos-Silva, I and Fletcher, O and Johnson, N and Bolla, M.K and Sawyer, E.J and Tomlinson, I and Kerin, M.J and Miller, N and Marme, F and Burwinkel, B and Yang, R and Guenel, P and Truong, T and Menegaux, F and Sanchez, M and Bojesen, S and Nielsen, S.F and Flyger, H and Benitez, J and Zamora, M.P and Perez, J.I and Menendez, P and Anton-Culver, H and Neuhausen, S and Ziogas, A and Clarke, C.A and Brenner, H and Arndt, V and Stegmaier, C and Brauch, H and Bruning, T and Ko, Y.D and Muranen, T.A and Aittomaki, K and Blomqvist, C and Bogdanova, N.V and Antonenkova, N.N and Lindblom, A and Margolin, S and Mannermaa, A and Kataja, V and Kosma, V.M and Hartikainen, J.M and Spurdle, A.B and Wauters, E and Smeets, D and Beuselinck, B and Floris, G and Chang-Claude, J and Rudolph, A and Seibold, P and Flesch-Janys, D and Olson, J.E and Vachon, C and Pankratz, V.S and McLean, C and Haiman, C.A and Henderson, B.E and Schumacher, F and Marchand, L. Le and Kristensen, V and Alnaes, G.G and Zheng, W and Hunter, D.J and Altena, A.M. van and ...
Journal of Medical Genetics, ISSN 0022-2593, 2016, Volume 53, pp. 800 - 811
BACKGROUND: The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies... 
Journal Article
by Meeks, H.D and Song, H and Michailidou, K and Bolla, M.K and Dennis, J and Wang, Q and Barrowdale, D and Frost, D and McGuffog, L and Ellis, S and Feng, B and Buys, S.S and Hopper, J.L and Southey, M.C and Tesoriero, A and James, P.A and Bruinsma, F and Campbell, I.G and Broeks, A and Schmidt, M.K and Hogervorst, F.B and Beckman, M.W and Fasching, P.A and Fletcher, O and Johnson, N and Sawyer, E.J and Riboli, E and Banerjee, S and Menon, U and Tomlinson, I and Burwinkel, B and Hamann, U and Marme, F and Rudolph, A and Janavicius, R and Tihomirova, L and Tung, N and Garber, J and Cramer, D and Terry, K.L and Poole, E.M and Tworoger, S.S and Dorfling, C.M and Rensburg, E.J. van and Godwin, A.K and Guenel, P and Truong, T and Stoppa-Lyonnet, D and Damiola, F and Mazoyer, S and Sinilnikova, O.M and Isaacs, C and Maugard, C and Bojesen, S.E and Flyger, H and Gerdes, A.M and Hansen, T.V and Jensen, A and Kjaer, S.K and Hogdall, C and Hogdall, E and Pedersen, I.S and Thomassen, M and Benitez, J and Gonzalez-Neira, A and Osorio, A and Mde, L. Hoya and Segura, P.P and Diez, O and Lazaro, C and Brunet, J and Anton-Culver, H and Eunjung, L and John, E.M and Neuhausen, S.L and Ding, Y.C and Castillo, D. Del and Weitzel, J.N and Ganz, P.A and Nussbaum, R.L and Chan, S.B and Karlan, B.Y and Lester, J and Wu, A and Gayther, S and Ramus, S.J and Sieh, W and Whittermore, A.S and Monteiro, A.N and Phelan, C.M and Terry, M.B and Piedmonte, M and Offit, K and Robson, M and Levine, D and Moysich, K.B and Cannioto, R and Olson, S.H and Daly, M.B and Nathanson, K.L and ...
Journal of the National Cancer Institute, ISSN 0027-8874, 2016, Volume 108, Issue 2
BACKGROUND: The K3326X variant in BRCA2 (BRCA2*c.9976A>T; p.Lys3326*; rs11571833) has been found to be associated with small increased risks of breast cancer.... 
Journal Article
by Kuchenbaecker, K.B and Ramus, S.J and Tyrer, J and Lee, A and Shen, H.C and Beesley, J and Lawrenson, K and McGuffog, L and Healey, S and Lee, J.M and Spindler, T.J and Lin, Y.G and Pejovic, T and Bean, Y and Li, Q and Coetzee, S and Hazelett, D and Miron, A and Southey, M and Terry, M.B and Goldgar, D.E and Buys, S.S and Janavicius, R and Dorfling, C.M and Rensburg, E.J. van and Neuhausen, S.L and Ding, Y.C and Hansen, T.V and Jonson, L and Gerdes, A.M and Ejlertsen, B and Barrowdale, D and Dennis, J and Benitez, J and Osorio, A and Garcia, M.J and Komenaka, I and Weitzel, J.N and Ganschow, P and Peterlongo, P and Bernard, L and Viel, A and Bonanni, B and Peissel, B and Manoukian, S and Radice, P and Papi, L and Ottini, L and Fostira, F and Konstantopoulou, I and Garber, J and Frost, D and Perkins, J and Platte, R and Ellis, S and Embrace and Godwin, A.K and Schmutzler, R.K and Meindl, A and Engel, C and Sutter, C and Sinilnikova, O.M and Damiola, F and Mazoyer, S and Stoppa-Lyonnet, D and Claes, K and Leeneer, K. De and Kirk, J and Roiguez, G.C and Piedmonte, M and O'Malley, D.M and Hoya, M. de la and Caldes, T and Aittomaki, K and Nevanlinna, H and Collee, J.M and Rookus, M.A and Oosterwijk, J.C and Tihomirova, L and Tung, N and Hamann, U and Isaccs, C and Tischkowitz, M and Imyanitov, E.N and Caligo, M.A and Campbell, I.G and Hogervorst, F.B and Olah, E and Diez, O and Blanco, I and Brunet, J and Lazaro, C and Pujana, M.A and Jakubowska, A and Gronwald, J and Lubinski, J and Sukiennicki, G and Massuger, L.F.A.G and Altena, A.M. van and Aben, K.K.H and ...
Nature Genetics, ISSN 1061-4036, 2015, Volume 47, Issue 2, pp. 164 - 171
Genome-wide association studies (GWAS) have identified 12 epithelial ovarian cancer (EOC) susceptibility alleles. The pattern of association at these loci is... 
Cèl·lules epitelials | Càncer d'ovari | Developmental genetics | Human genome | Epithelial cells | Genètica del desenvolupament | Nucleotides | Genoma humà | Nucleòtids | Ovarian cancer
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
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