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Men's decision-making about predictive BRCA1/2 testing: the role of family [PDF]
, 2005 Men who have a family history of breast and/or ovarian cancer may be offered a predictive genetic test to determine whether or not they carry the family specific BRCA1/2 mutation.Moynihan, C., R. Eeles, A. Lucassen, Eeles, R., Hallowell, N., A. Ardern‐Jones, C. Foster, Ardern-Jones, A., M. Watson, Lucassen, A., Foster, C., Watson, M., C. Moynihan, N. Hallowell +13 morecore +1 more sourceClinical outcome of breast cancer in carriers of BRCA1 and BRCA2 mutations according to molecular subtypes
Scientific Reports, 2020 BRCA1/BRCA2 genes play a central role in DNA repair and their mutations increase sensitivity to DNA-damaging agents. There are conflicting data regarding the prognostic value of BRCA germline mutations in breast cancer (BC) patients.S. de Talhouet, J. Péron, A. Vuilleumier, A. Friedlaender, V. Viassolo, A. Ayme, A. Bodmer, I. Treilleux, N. Lang, J. Tille, P. Chappuis, A. Buisson, S. Giraud, C. Lasset, V. Bonadona, O. Trédan, S. Labidi-Galy +16 moresemanticscholar +1 more sourceGuideline-Based, Multi-Gene Panel Germline Genetic Testing for at-Risk Patients with Breast Cancer
Breast Cancer: Targets and Therapy, 2023 Hikmat Abdel-Razeq,1,2 Lama Abujamous,3 Khansa Al-Azzam,1 Hala Abu-Fares,1 Hira Bani Hani,1 Mais Alkyam,1 Baha’ Sharaf,1 Shatha Elemian,1 Faris Tamimi,1 Fawzi Abuhijla,4 Sarah Edaily,1 Osama Salama,1 Hazem Abdulelah,1 Rand Daoud,1 Mohammad Abubaker,1 ...Abdel-Razeq H, Abujamous L, Al-Azzam K, Abu-Fares H, Bani Hani H, Alkyam M, Sharaf B, Elemian S, Tamimi F, Abuhijla F, Edaily S, Salama O, Abdulelah H, Daoud R, Abubaker M, Al-Atary A +15 moredoaj Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. [PDF]
, 2012 Several common alleles have been shown to be associated with breast and/or ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility ...Dutra-Clarke, Ana, CIMBA, SWE-BRCA, Bruno Buecher, Theo A. Van Os, Dorfling, Cecelia M., Beesley, Jonathan, Donaldson, A., Mark H Greene, Verhoef, Senno, Tihomirova, L, Pankratz, Vernon, Engel, C., Muy-Kheng Tea, Barrowdale, D., Douglas, F., Maria A Caligo, Lespérance, B, Anne Marie Gerdes, Barkardottir, Rosa B, Varon-Mateeva, Raymonda, Ozcelik, Hilmi, Kast, K, Raymonda Varon Mateeva, Hurteau, J., Meindl, A., Heli Nevanlinna, Diez, O., Patricia A. Ganz, Harbst, K, Jennifer T Loud, de la Hoya, Miguel, Odunsi, K, Andrew K. Godwin, Jan C. Oosterwijk, Dorfling, Cecelia, Skytte, Anne-Bine, Zlowowcka-Perlowska, Elzbieta, Paolo Peterlongo, Bonanni, Bernardo, Ana Osorio, John L Hopper, Walker, L, Arnold, N, Morrison, Patrick, Hopper, JL, Yuan C. Ding, Arver, Brita, Ausems, Margreet, Brita Arver, Niederacher, D, Lubinski, Jan, Tihomirova, L., Kuchenbaecker, Karoline B, Ana Dutra Clarke, Gómez Garcia, Encarna B., Douglas F. Easton, Brewer, C., Mulligan, A.M., Osorio, A, Antonis C. Antoniou, Simone Heidemann, Esther M John, Mazoyer, S, Calender, A, Blanco, I, Rosa B. Barkardottir, Patrick J Morrison, Lee, A, Papi, Laura, GEMO Collaborators Study, Beattie, M.S., Lindblom, A., van Os, Theo A, van Rensburg, Elizabeth Jansen, van Os, Theo, Platte, Radka, Mieke Kriege, Spurdle, Amanda B, Antoniou, Antonis, Kirk, J, Ganz, Patricia A, Greene, Mark H., Ferrer, Sandra F, Gross, Jenny, Susan L Neuhausen, Yuan C Ding, Os, T.A., Mortemousque, Isabelle, Kirk, Judy, Ignacio Blanco, Hansen, T.V., Donaldson, A, Fredericksen, Z, Eeles, R., Hopper, J.L., Andrea Gehrig, Taru A Muranen, Godwin, AK, Nathanson, K, Buys, S., Peterlongo, Paolo, Kwong, A., Varon-Mateeva, R, Calender, A., Kruse, Torben A, Ros Eeles, Muy-Kheng, Tea, Terry, Mary, Kuchenbaecker, K. B., Montagna, M., Fiorica, J, Kruse, Torben A., Noralane M. Lindor, Gadzicki, D., Lindor, Noralane M, Loud, Jennifer, Pankratz, Vernon S, Davidson, R., Soucy, Penny, Raymonda Varon-Mateeva, D. E. Antoine Pauw, Brewer, Carole, Study Gemo Collaborators, Kruse, T.A., Judy Kirk, Sue Healey, Gerdes, Anne-Marie, Singer, Christian, Radka Platte, Engel, Christoph, Taru A. Muranen, Lindblom, Annika, Annika Lindblom, Torben A. Kruse, Ligtenberg, Marjolijn J., Schäfer, Dieter, Muranen, Taru, Xiaoqing Chen, Verhoef, S, Kirchhoff, T., Prieur, Fabienne, Hansen, Thomas V., Morrison, Patrick J., Godwin, Andrew K, Christian Sutter, Meindl, A, D. Geschwantler Kaulich, Muy Kheng Tea, Karlan, B.Y., Toland, Amanda E, Gómez Garcia, EB, Dieter Niederacher, Collée, J. Margriet, Wijnen, J., Ottini, Laura, Gross, J, Orland Diez, Os, T.A. van, Evans, Gareth; id_orcid, Isaacs, Claudine, Peterlongo, P, Jaworska, K., Fredericksen, Z., Jaworska, Katarzyna, Wijnen, J, Loman, Niklas,, Ozcelik, H, Rosa B Barkardottir, Manoukian, S., Rogers, Mark, Daniel Barrowdale, Gaudet, M., Hogervorst, Frans B, Adlard, J, Easton, Douglas F., Léoné, Mélanie, van Os , Theo, Fineberg, E, Byron, John, Collee, Margriet, Bernard Peissel, SWE-BRCA Study Collaborator, Caligo, MA, Lazaro, C, Muranen, TA, Ausems, M.G., Hanne EJ Meijers-Heijboer, Wang, X.S., Ferrer, S.F., Hogervorst, F.B., Domchek, S., Schmutzler, RK, Gomez Garcia, E.B., Anne Bine Skytte, Frenay, M, Lubinski, J., Kuchenbaecker, KB, Maria A. Caligo, Sutter, C., Anne-Marie Gerdes, Helmut Deissler, Finn C Nielsen, Garcia, E.B.G., Beattie, Mary S., Caligo, Maria A, Toland, Amanda E., Penny Soucy, Mulligan, Anna Marie, Mads Thomassen, Spurdle, Amanda, EMBRACE Study Collaborator, Dolcetti, Riccardo, Mazoyer, S., Deissler, H., Eeles, Ros, Gayther, Simon A, Tea, Muy-Kheng, Marjolijn J. Ligtenberg, van Os , Theo A, Gadzicki, D, Ferrer, Sandra, Sobol, H., Lesperance, B., Kirchhoff, T, Gayther, SA, Fergus J Couch, A. De Pauw, Cristina Oliani, Hansen, TV, Lespérance, Bernard, Frost, D., Vernon S Pankratz, Terry, MB, Hansen, Thomas V, Neuhausen, Susan, Hopper, John L., Hansen, TVO, van Os, TA, Hamann, U, Conxi Lazaro, Antoniou, AC, Rosemarie Davidson, Imyanitov, E., Dorfling, C.M., Isaacs, C., Davidson, R, Teulé, A, Hansen, T.V.O., Donaldson, Alan, Kaulich, Daphne, J Margriet Collée, Kaulich, Daphne, Geschwantler, Domchek, S, Mary S Beattie, Collée, JM, Offit, K, Adlard, Julian, John M. Esther, Frost, D, Cook, J., Schaefer, Dieter, Wang, XS, Ottini, L, Wang, Xianshu, Caligo, Maria, Peock, Susan, Karlan, BY, Elizabeth Jansen van Rensburg, Terry, MU, Jakubowska, Anna, Papi, L., Lee, A., Nielsen, FC, Paillerets, B. Bressac-de, John, EM, Embrace Hebon, Mulligan, AM, Kriege, M, Muranen, Taru A., Gayther, Simon, Teo, S.H., Mulligan, AU, Meijers-Heijboer, HE, Dieter Schafer, Rita K. Schmutzler, Wang, X, Sutter, C, Susan Domchek, Piedmonte, Marion, Ganz, P.A., Lalloo, F., Bove, Betsy, Alan Donaldson, E. Jansen Van Rensburg, Evans, D G, Kriege, Mieke, Ferrer, Sandra U., Schafer, D., Durda, K., Adlard, J., Loris Bernard, Encarna B. Gomez Garcia, Hamann, Ute, Miguel De La Hoya, Singer, Christian F, Norbert Arnold, Ausems, MG, Easton, Douglas, McGuffog, L., Peissel, Bernard, Tomas Kirchhoff, Blanco, I., Buys, S, Nathanson, Kate, Miron, A., Collee, M, Ganz, PA, Frost, Debra, Radice, Paolo, Arnold, Norbert, Rebbeck, T, Kast, Karin, Lubinski, J, Barkardottir, Rosa, Caldes, T., Frans B Hogervorst, Alexander Miron, Sinilnikova, OM, Meijers-Heijboer, Hanne E, Lisa Walker, Frans B. Hogervorst, Rosenquist, Richard,, Riccardo Dolcetti, Valle, J. Del, Chris Jacobs, Fiorica, J., Ozcelik, H., Trinidad Caldes, Stoppa-Lyonnet, D., Léoné, M, Ferrer, Sandra,, K. Investigators, Dorkins, H, Cohn, David, Kuchenbaecker, K.B., Wijnen, J. van, van Os, Theo A., Hansen, Thomas VO, Katarzyna Durda, Morrison, PJ, Wijnen, Juul, David Cohn, Andrés, Raquel, Valle, J Del, Marc Frenay, Karin Kast, Huw Dorkins, Caldes, T, Oosterwijk, Jan, Heidemann, Simone, Hogervorst, FB, Margreet Gem Ausems, Stoppa-Lyonnet, D, Ligtenberg, M.J., Peterlongo, P., Garcia, Encarna B. Gomez, John, Esther, Greene, Mark H, Daphne Kaulich, Teule, A., Olah, E., Gehrig, Andrea, Montagna, M, Ligtenberg, Marjolijn, Beattie, Mary, Anneliese Fink-Retter, Beattie, MS, Vijai Joseph, Kaulich, DG, Kaulich, DU, E. Study, Jackie Cook, Mulligan, Anna, Marie, Encarna B Gómez Garcia, Neuhausen, Susan L, Terry, Mary, Beth, Karlsson, P., Lee, Andrew Roger, Barbara Wappenschmidt, Meindl, Alfons, Terry, Mary,, Neuhausen, S.L., Del Valle, J, van Os, T.A., Lazaro, Conxi, Olah, E, Durda, Katarzyna, Alain Calender, Evgeny Imyanitov, Anna Marie Mulligan, Soucy, P., E. Zlowocka Perlowska, Toland, Amanda, Złowowcka-Perłowska, Elżbieta, Isabelle Mortemousque, Durda, K, Dorkins, Huw, Healey, S, Chen, Xiaoqing, Couch, Fergus, Rosenquist, Richard, Research H. Facility, EMBRACE, Dorothea Gadzicki, Preisler-Adams, S., Glendon, Gord, Karoline B. Kuchenbaecker, Toland, A.E., Karlan, Beth, Greene, M.H., Kaulich, Daphne U., Nevanlinna, H., Hoya, M. de la, Elżbieta Złowowcka-Perłowska, McGuffog, Lesley, Lazaro, C (Conxi), Hilmi Ozcelik, Karoline B Kuchenbaecker, Melanie Leone, Złowowcka-Perłowska, E, Ana Dutra-Clarke, Muranen, Taru A, Lee, Andrew, Jensen, UB, Houdayer, Claude, Raquel Andres, Meijers-Heijboer, H.E., Mazoyer, Sylvie, Christian F. Singer, Olga M Sinilnikova, Hopper, John, Schmutzler, Rita, Platte, R, Antoniou, A.C., Claudine Isaacs, Ellis, Steve D, Terry, Mary U, Singer, CF, Ding, Yuan C., Blanco, Ignacio, Mulligan, Anna,, Oosterwijk, JC, Zlowowcka-Perłowska, Elżbieta, Andrulis, IL, HEBON Study Collaborator, Pankratz, VS, Lesley Mcguffog, Loud, J.T., Chen, XQ, Goldgar, D., Collée, J M, Ausems, Margreet GEM, Ava Kwong, Byron, J., Siranoush Manoukian, Nevanlinna, H, Terry, Mary B, Marjolijn J Ligtenberg, Goldgar, D, Mark H. Greene, Sylvie Mazoyer, Fink-Retter, A., Meijers-Heijboer, Hanne E J, Hanne E. J. Meijers Heijboer, Dorfling, CM, Loman, N., Zaffaroni, Daniela, Preisler-Adams, Sabine, Pankratz, V.S., Chen, X., Heidemann, S, Simard, J., Sobol, Hagay, Easton, D.F., Kwong, A, Sabine Preisler-Adams, Per Karlsson, Fiorica, James, Bernard, L, Godwin, Andrew K., Mary Beth Terry, Radice, P, Niklas Loman, Chenevix-Trench, G., Daly, Mary, V. Joseph, Ausems, MGEM, Sinilnikova, O.M., Terry, Mary Beth, Glendon, G, Ding, Y.C., Ausems, Margreet G. E. M., Elzbieta Złowowcka Perłowska, Muranen, T.A., Hansen, Thomas V. O., Lazaro, C., kConFab Investigators, Buecher, B, Imyanitov, E, Joseph, Vijai, Christoph Engel, van Rensburg, Elizabeth, Jansen, Loud, Jennifer T., Bernard, Loris, Betsy Bove, Ausems, M.G.E.M., Couch, Fergus J, Paterson, J., Garcia, EBG, van Rensburg, EU, Andrulis, Irene L, Barkardottir, Rosa B., Buecher, B., Ganz, Patricia, Olga M. Sinilnikova, Wappenschmidt, B, Zachary Fredericksen, Elena Fineberg, Niederacher, D., Simon A. Gayther, Douglas, F, Hurteau, J, Mia Gaudet, Kunle Odunsi, Cancer Study S. B. Swedish Breast, Carole Brewer, de Pauw, Antoine, Greene, MH, Karlan, Beth Y, Piedmonte, M, Laima Tihomirova, van Rensburg, EJ, Georgia Chenevix-Trench, Osorio, Ana, Bressac-de Paillerets, B., Offit, Kenneth, Nielsen, Finn, van Rensburg, Elizabeth,, Debra Frost, Piedmonte, M., et al., Mercedes Duran, Buecher, Bruno, Jensen, Uffe B, Southey, Melissa, Houdayer, C., Barrowdale, D, Jaworska, K, Spurdle, Amanda B., Kast, K., Nielsen, Finn C, Evans, D Gareth, Bonanni, B, Spurdle, AB, Ligtenberg, Marjolijn J, Greene, Mark, Soucy, P, Southey, M, Hagay Sobol, Evans, DG, Bove, B, Prieur, F, Rebbeck, Tim, Melissa Southey, Cecelia M Dorfling, Nina Ditsch, Frenay, M., Neuhausen, Susan L., Miron, A, Platte, R., Bove, B., Fink-Retter, Anneliese, Fiebig, B, Byron, J, Hodgson, Shirley, Schaefer, D, Jean Hurteau, Shirley Hodgson, Kate Nathanson, de Pauw, A, Oliani, C, Fineberg, E., Antoniou, Antonis C, Kaulich, Daphne,, Trevor Cole, Rogers, M.T., Gayther, Simon A., Paterson, Joan, Andrew K Godwin, Amanda E. Toland, Britta Fiebig, Zaffaroni, D., Joan Paterson, Ditsch, N, Oosterwijk, Jan C., Andres, R., Joseph, V, Fiebig, Britta, Bressac- de Paillerets, Brigitte, Thomassen, Mads, Meijers-Heijboer, HEJ, Soo-Hwang Teo, GEMO Study Collaborator, Prieur, F., Kruse, TA, Tihomirova, Laima, Preisler-Adams, S, Richard Rosenquist, Ferrer, Sandra, Fert, Daphne Geschwantler Kaulich, Rebbeck, T., Leone, M., Ellis, Steve, Thomas V. O. Hansen, Kenneth Offit, Jan Lubinski, Evans, D. Gareth, John Byron, Noralane M Lindor, Walker, Lisa, Marion Piedmonte, Ellis, Steve D., Jonathan Beesley, Caron, O., Heidemann, S., Diez, O, Ditsch, N., Easton, Douglas F, Jacobs, C, Steve D. Ellis, Hogervorst, Frans B., Theo A van Os, Christian F Singer, Morrison, P.J., Niederacher, Dieter, Chenevix-Trench, G, Teo, Soo-Hwang, Mary S. Beattie, Arver, B., Cohn, D., Mark T Rogers, Del Valle, J., Jensen, Uffe B., Lund University., Dolcetti, R, van Wijnen, J (Juul), Gehrig, A, Teulé, Alex, D. Gareth Evans, Dominique Stoppa Lyonnet, Oosterwijk, J.C., Pankratz, Vernon S., Geschwantler Kaulich, Daphne, Couch, FJ, Offit, K., Evans, D.G., Jensen, Uffe, Meijers-Heijboer, Hanne EJ, Eeles, R, Nevanlinna, Heli, Schäfer, D, Cook, Jackie, Ditsch, Nina, Healey, S., John L. Hopper, Jacques Simard, Ligtenberg, MJ, Hodgson, S., Benítez, J, van Rensburg, Elizabeth U., Engel, C, van Rensburg, Elizabeth J, Gehrig, A., Durán, M, Meijers-Heijboer, Hanne, Peissel, B., Simard, Jacques, Jakubowska, A, Hogervorst, Frans, Gayther, S.A., Glendon, G., Uffe B. Jensen, Caron, O (Olivier), J. Del Valle, Ding, Yuan, Beesley, J, Odunsi, Kunle, Terry, Mary U., Odunsi, K., Jacobs, Chris, Valle, J D, van Rensburg, Elizabeth U, Sabine Preisler Adams, Amanda E Toland, Cecelia M. Dorfling, Terry, M.U., Diez, Orland, Couch, Fergus J., Mulligan, Anna U., Benítez, Javier, Lindor, N.M., Sandra Ferrer, Sandra Fert Ferrer, Mulligan, Anna M, Joseph Vijai, Dutra-Clarke, A., Douglas, Fiona, Beattie, Mary S, Mulligan, Anna U, Couch, F.J., Loud, Jennifer T, Paterson, J, Thomas VO Hansen, Daly, M., Jenny Gross, Chen, X, Ellis, S.D., Montagna, Marco, Hamann, U., Patrick J. Morrison, Teo, SH, Ding, Yuan C, Steve D Ellis, Toland, AE, Douglas F Easton, Ferrer, Sandra Fert, Ausems, Margreet G E M, Saundra Buys, Fabienne Prieur, Kriege, M., Gómez Garcia, Encarna B, Irene L Andrulis, Mulligan, Anna, Karlan, Beth Y., A. Van, Laura Ottini, Kwong, Ava, Torben A Kruse, Manoukian, S, Laura Papi, Spurdle, A.B., Collée, J Margriet, Gross, J., Benitez, J., Caligo, Maria A., Andrulis, Irene, Gaudet, M, Neuhausen, SL, Simard, J, Andrés, R, Skytte, AB, James Fiorica, Kuchenbaecker, Karoline, Isaacs, C, Mortemousque, I, Mary Terry, Hurteau, Jean, Kruse, Torben, Ding, YC, Fiona Douglas, Brewer, C, null null, Mortemousque, I., Olah, Edith, Zlowowcka-Perlowska, E., Bressac-de Paillerets, B, Lindor, NM, John Em, CIMBA Study Collaborator, Sinilnikova, Olga M, Caron, Olivier, Andrulis, Irene L., Arnold, N., Gerdes, A-M, Thomassen, M, Soo Hwang Teo, Kuchenbaecker, Karoline B., Harbst, K., Juul Wijnen, Uffe B Jensen, Davidson, Rosemarie, Tea, M-K, David Goldgar, Bernardo Bonanni, Sinilnikova, Olga Muno, Hansen, Thomas, Jennifer T. Loud, Ganz, Patricia A., John, E.M., van Rensburg, Elizabeth, Easton, DF, Fiebig, B., Dorfling, Cecelia M, Harbst, Katja, Terry, M.B., Piedmonte, M., Gaudet, Mia, Ottini, L., Teo, S-H, Duran, M., Susan Peock, Kaulich, Daphne G, Barkardottir, RB, Zlowowcka-Perlowska, E, Nathanson, K., Singer, C.F., Simon A Gayther, Dolcetti, R., Kaulich, Daphne U, Senno Verhoef, John, Esther M., Chenevix-Trench, Georgia, Elizabeth Van Rensburg, J Del Valle, Papi, L, Skytte, A-B, Kaulich, D.G., Fink-Retter, A, Lalloo, Fiona, Godwin, A.K., Alex Teule, Ute Hamann, Lindor, Noralane, Marco Montagna, Valle, JD, Pauw, A. de, John, Esther M, Antoniou, Antonis C., Verhoef, S., Katarzyna Jaworska, Varon-Mateeva, R., Barrowdale, Daniel, Andrulis, I.L., Caligo, M.A., Oliani, C., Swe Brca Cimba, Sutter, Christian, Meijers-Heijboer, Hanne EJ., Rosenquist, R., Karlsson, P, D Gareth Evans, Frenay, Marc, Anna Mulligan, Claude Houdayer, Schmutzler, R.K., Anneliese Fink Retter, Brigitte Bressac De Paillerets, Cook, J.L., Cole, T., Lalloo, F, Anna Jakubowska, Bressac-de Paillerets, Brigitte, Fiona Lalloo, Jacobs, C., Katja Harbst, Karlsson, Per W., Cohn, D, Joseph, V., Collee, J.M., Sinilnikova, Olga M., Bonanni, B., de Pauw, A., Fineberg, Elena, Amanda B. Spurdle, Healey, Sue, Daly, M, Antoniou, A. C., Chen, X.Q., Rita K Schmutzler, Rogers, MT, Patricia A Ganz, Beesley, J., Calender, Alain, Finn C. Nielsen, Skytte, A.B., Gadzicki, Dorothea, Loman, N, Cook, J, Wappenschmidt, B., Beth Y. Karlan, Dorkins, H., Kaulich, D.U., Mary Daly, Hopper, John L, Domchek, Susan, Lindblom, A, Tim Rebbeck, Vernon S. Pankratz, Godwin, Andrew, Oosterwijk, Jan C, de la Hoya, M, Nielsen, F.C., Meijers-Heijboer, Hanne E. J., Thomassen, M., Deissler, Helmut, Kirchhoff, Tomas, Barkardottir, R.B., Rogers, Mark T., Daniela Zaffaroni, Harbst, Katja,, Paolo Radice, Gómez Garcia, Encarna, Buys, Saundra, Ligtenberg, M.J.L., Morrison, Patrick J, J. Margriet Collee, Jan C Oosterwijk, Ausems, Margreet G, Tea, MK, Peterlongo, Paulo, Miron, Alexander, Fergus J. Couch, Schmutzler, Rita K., Ferrer, Sandra U, Terry Mu, Singer, Christian F., Peock, S., Irene L. Andrulis, Georgia Chenevix Trench, Tea, M.K., Bernard, L., Terry Mb, Houdayer, C, Durán, Mercedes, Southey, M., Peock, S, Goldgar, David, Zaffaroni, D, Hodgson, S, Cole, Trevor, Imyanitov, Evgeny, Nielsen, Finn C., Rensburg, E.J. van, Jensen, U.B., Ferrer, SF, Jansen van Rensburg, Elizabeth, Bernard Lesperance, Gerdes, A.M., Oliani, Cristina, Arver, B, Deissler, H, HEBON, Ellis, SD, Karlsson, Per, Julian Adlard, Beth Y Karlan, Manoukian, Siranoush, Meijers-Heijboer, H.E.J., Javier Benitez, Osorio, A., Collee, M., Radice, P., Alfons Meindl, Andrew Lee, Mark T. Rogers, Kirk, J., Jakubowska, A., Gerdes, AM, Schmutzler, Rita K, Wappenschmidt, Barbara, Ferrer, SU, Thomassen, Marga, Rogers, Mark T, Caldes, Trinidad, Amanda B Spurdle, Lindor, Noralane M., Sinilnikova, Olga, Gord Glendon, Study G. Collaborators, Peissel, B, Dutra-Clarke, A, Edith Olah, McGuffog, L, Kaulich, Daphne Geschwantler, Loud, JT, Xianshu Wang, Brigitte Bressac- de Paillerets, Anne-Bine Skytte, Ferrer, S.U., Antonis C Antoniou, Rosenquist, R, Caron, O, Loman, Niklas, Sobol, H, Cole, T, Olivier Caron, Antoine de Pauw, Fredericksen, Zachary, Dominique Stoppa-Lyonnet, Meijers-Heijboer, E.J., Susan L. Neuhausen +999 morecore +1 more sourceComprehensive molecular comparison of BRCA1 hypermethylated and BRCA1 mutated triple negative breast cancers
Nature Communications, 2020 Homologous recombination deficiency (HRD) is a defining characteristic in BRCA-deficient breast tumors caused by genetic or epigenetic alterations in key pathway genes.D. Głodzik, A. Bosch, J. Hartman, M. Aine, J. Vallon-Christersson, C. Reuterswärd, Anna K Karlsson, Shamik Mitra, E. Niméus, K. Holm, J. Häkkinen, C. Hegardt, L. Saal, C. Larsson, M. Malmberg, L. Rydén, A. Ehinger, N. Loman, A. Kvist, H. Ehrencrona, S. Nik-Zainal, Å. Borg, J. Staaf +22 moresemanticscholar +1 more sourceSomatic mutational landscape in von Hippel–Lindau familial hemangioblastoma
Molecular Oncology, EarlyView.The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...Maja Dembic, Anne Nørremølle, Lilian Bomme Ousager, Lars van Brakel Andersen, Marie Louise Mølgaard Binderup, Mads Thomassen +5 morewiley +1 more source53BP1 inhibits homologous recombination in Brca1-deficient cells by blocking resection of DNA breaks
Cell, 2010 SUMMARY Defective DNA repair by homologous recombination (HR) is thought to be a major contributor to tumorigenesis in individuals carrying Brca1 mutations.S. Bunting, E. Callen, N. Wong, Hua-Tang Chen, F. Polato, Amanda L. Gunn, Anne Bothmer, N. Feldhahn, O. Fernández-Capetillo, Liu Cao, Xiaoling Xu, C. Deng, T. Finkel, M. Nussenzweig, Jeremy M. Stark, A. Nussenzweig +15 moresemanticscholar +1 more source