Results 51 to 60 of about 143,588 (347)
Accurate classification of BRCA1 variants with saturation genome editing
Nature, 2018 Variants of uncertain significance fundamentally limit the clinical utility of genetic information. The challenge they pose is epitomized by BRCA1, a tumour suppressor gene in which germline loss-of-function variants predispose women to breast and ...Gregory M. Findlay, R. Daza, Beth K. Martin, Melissa D. Zhang, Anh P. Leith, Molly Gasperini, Joseph D. Janizek, Xingfan Huang, Lea M. Starita, J. Shendure +9 moresemanticscholar +1 more sourcePan-Cancer Analysis of BRCA1 and BRCA2 Genomic Alterations and Their Association With Genomic Instability as Measured by Genome-Wide Loss of Heterozygosity
JCO Precision Oncology, 2020 PURPOSE BRCA1 or BRCA2 loss of function results in homologous recombination deficiency (HRD), which is targetable by poly (ADP-ribose) polymerase (PARP) inhibitors and other DNA-damaging agents.E. Sokol, D. Pavlick, Hossein Khiabanian, G. Frampton, J. Ross, J. Gregg, P. Lara, S. Oesterreich, N. Agarwal, A. Necchi, V. Miller, B. Alexander, Siraj M. Ali, S. Ganesan, Jon H. Chung +14 moresemanticscholar +1 more sourceEvaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA) [PDF]
, 2009 BACKGROUND: In this study we aimed to evaluate the role of a SNP in intron I of the ERCC4 gene (rs744154), previously reported to be associated with a reduced risk of breast cancer in the general population, as a breast cancer risk modifier in BRCA1 and ...Rodriguez, GC, S V Blank, Gomez Garcia, E. B., O Barnett-Griness, Caligo, M A, de la Hoya, M.,, Schaefer, D.,, SWE-BRCA, Fricker, J. P., Imyanitov, E.N., Engel, C., H T Lynch, Spiess, A.C., Olivier-Faivre, L, Douglas, F., D Frost, E N Imyanitov, Rennert, G. (Gad), Meindl, A., Gschwantler-Kaulich, D. (Daphne), K Offit, De La Hoya, M., Couch, F.J. (Fergus), Milne, R.L. (Roger), Peyrat, JP, Schaefer, D., Johannsson, O.T., Ozcelik, H.,, Askmalm, M. S., Viel, A., Hogervorst, F. B.L., Bergman, Annika,, Arnold, N, Mai, P.L. (Phuong), C F Singer, Hopper, JL, Morrison, Patrick, Sinilnikova, O. M., Blank, S.V. (Stephanie), Weerasooriya, N.,, Group, EMBRACE, Douglas, F. (Fiona), M B Terry, A van den Ouweland, Dagan, E., Manoukian, S.,, Niederacher, D, Allavena, A., Froster, U.G. (U.), O M Sinilnikova, Versmold, B., Hansen, Thomas V.O., Revillion, F.,, Nevanlinna, H.,, Milne, R L, Radice, P.,, Boggess, J.F., Neuhausen, S.L. (Susan), Ding, Y C,, Easton, D F, Osorio, A, S Giraud, Dagan, E, Askmalm, M S, Evans, D.G. (Gareth), Benítez, J. (Javier), Muller, D, Rennert, G, Gómez García, EB, Claes, K.,, Moncoutier, V. (Virginie), Allavena, A, E M John, Moncoutier, V.,, L Barjhoux, F Révillion, Boggess, J F, Pita, G., Peyrat, J. -P, Antoniou, A C, Greene, M. H., S L Neuhausen, Wijnen, JT, Schwartz, P.E. (Peter), Hansen, T.v.O, Schaefer, D. (D.), A B Spurdle, Basil, J., Claes, K., Hopper, J. L., Fricker, J-P, Hansen, T.V., Milne, R.L., Eeles, R., Hopper, J.L., Cajal, T.R.Y., Godwin, AK, Buys, S., Varon-Mateeva, R, P Radice, Jernström, H. (H.), N. Imyanitov, E., Giraud, S. (Sophie), Fiebig, B.,, Montagna, M., Casella, C. (Cinzia), J Brunet, Group, GEMO, Barnett-Griness, O., A Meindl, Allavena, A. (Anna), S Peock, Simard, J. (Jacques), Jernström, Helena, van den Ouweland, A.,, Manoukian, S. (Siranoush), A E Toland, C Engel, Cassini, C., Peyrat, J-P,, Wang, X.,, Cruger, D G, Kaufman, B.,, Verhoef, S, Kirchhoff, T., Barnett-Griness, O.,, Blank, S V, Luccarini, C, A Osorio, Oliver, C T, Goldgar, D.,, Meindl, A, R Gershoni-Baruch, Pfeiler, G. (Georg), J Cook, Szabo, C.I., Kircchoff, T. (Tomas), E. Schwartz, P., Hamann, U. (Ute), Giraud, S, U G Froster, Boggess, JF, Arver, B. (Brita Wasteson), T. Johannsson, O.,, Kaufman, B. (Bella), Muller, D.W. (Danièle), Chen, X.C. (X. C.), G Pita, Tizzoni, L., Froster, U.G., Olivier-Faivre, L.,, Kosarin, K.,, Peterlongo, P, Oliver, C.T., Faivre, L. (Laurence), Milne, RL, Kosarin, K., Andrulis, I. L., Ozcelik, H, Manoukian, S., Antoniou, A.C. (Antonis), Peock, S. (Susan), Nathanson, K L,, Thomassen, M. (Mads), Domchek, SM, Pita, G. (Guillermo), Pfeiler, G.,, Tizzoni, L. (Laura), Schwartz, PE, Moncoutier, V., E Friedman, Mai, P., J Simard, Andrulis, I.L. (Irene), Caligo, MA, Heikinen, T. (Tuomas), Hogervorst, F.B., Schmutzler, RK, Gomez Garcia, E.B., F J Couch, Simard, J.,, Luccarini, C.,, Laitman, Y., Gerdes, A-M. (Anne-Marie), E. Toland, A.,, Spiess, A.-C., Ozcelik, H. (Hilmi), Garcia, E.B.G., Oliver, C.T. (Clare), Morrison, P J,, Eeles, R.,, Evans, D G,, S Cohen, Couch, F J, Domchek, S.M., Gomez Garcia, E B, Ditsch, N.,, B Arver, Caldes, T.,, Deissler, H., McGuffog, L. (Lesley), Weerasooriya, N, Hogervorst, F B L, Kirchhoff, T, Hansen, TV, Terry, MB, Frost, D., Spiess, A. C., Hansen, TVO, Hamann, U, Antoniou, AC, N Arnold, Spiess, AC, Luccarini, C. (Craig), Offit, K, Frost, D, Lynch, H T, Barjhoux, L. (Laure), Cook, J., Greene, M H, J-P Peyrat, F Douglas, Andrulis, I L,, EB Gómez García, Schmutzler, R. K., John, EM, KConFab, S Healey, D G Evans, Beesley, J.,, Caldes, T. (Trinidad), Claes, Kathleen, Beesley, J. (Jonathan), Nathanson, K.L. (Katherine), F Lejbkowicz, Offit, K.,, Kaufman, B, Wang, X, Muller, D., Heikkinen, T., Lalloo, F., Jernström, H, Evans, D G, Kontorovich, T. (Tair), G Pichert, Lalloo, F.,, Cook, M., Pichert, G., C. Rodriguez, G., Askmalm, M.S., B Malmer, Singer, C F, A-M Gerdes, Domchek, S M, C Cassini, Ding, Y. C., Yassin, Y. (Yosuf), Godwin, A.K. (Andrew), McGuffog, L., Buys, S, Weerasooriya, N. (Nayana), Spurdle, A B,, Miron, A., M Piedmonte, Miron, A. (Alexander), Gershoni-Baruch, R.,, Fricker, J.P., Laitman, Y.,, Caldes, T., Hamann, U.,, M Montagna, Sinilnikova, OM, Friedman, E.,, Pfeiler, G., Cruger, D.G., Ozcelik, H., G. Froster, U., Ditsch, N. (Nina), Froster, UG, Stoppa-Lyonnet, D., Peterlongo, P. (Paolo), Terry, M B,, Y C Ding, Toland, A E, Zikan, M., Daly, M.B. (Mary), L McGuffog, Pita, G.,, Versmold, B, Engel, C.,, Morrison, PJ, Oliver, C T,, J F Boggess, B Kaufman, Caldes, T, Hoya, M. (Miguel) de La, D Niederacher, A Allavena, Hogervorst, FB, Easton, D. F., Stoppa-Lyonnet, D, Peterlongo, P., Stoppa-Lyonnet, D. (Dominique), Caligo, M A,, Montagna, M, Viel, A. (Alessandra), Couch, F. J., Cook, M.,, G. Froster, U.,, GEMO, Zikan, M, Y Yassin, Wijnen, J.T., Family Registry, Breast Cancer, Rodriguez, G. C., Neuhausen, S.L., J Benítez, T Ramón y Cajal, Cruger, DG, Barjhoux, L.,, A C Antoniou, Pichert, G, J Beesley, Nathanson, K. L., S M Domchek, Benitez, J.,, Healey, S, Douglas, F.,, Ramon Y Cajal, T., P Peterlongo, EMBRACE, Group, HEBON, Toland, A.E., Group, KConFab, Greene, M.H., Nevanlinna, H., Hoya, M. de la, Boggess, J.F. (John), Ding, Y C, Gschwantler-Kaulich, D.,, Nathanson, K L, G Chenevix-Trench, Hodgson, S.,, Garcíla, E. B. G., Antoniou, A.C., N. Imyanitov, E.,, Blank, SV, Singer, CF, Yassin, Y.,, Friedman, E, Gerdes, A. M., Andrulis, IL, Mai, P.,, Fricker, J.P. (Jean Pierre), Breast Cancer Family Registry, Stenmark Askmalm, Marie, Lynch, H.T., Deissler, H.,, Wakeley, K., Goldgar, D., Claes, K, H Ozcelik, M Barile, Szabo, C. I., Barjhoux, L., Nevanlinna, H, Caligo, M.A. (Maria), Schmutzler, R K, Goldgar, D, Laitman, Y. (Yael), Nevanlinna, H. (Heli), Van Den Ouweland, A., Morrison, P. J., Pichert, G.,, Chen, X., Yannoukakos, D.,, Hansen, Thomas V O, Simard, J., Easton, D.F., Arver, B.,, Godwin, A K,, V. Blank, S., Johannson, O.T. (Oskar), Radice, P, Frost, D.,, Chenevix-Trench, G., Basil, J.,, Sinilnikova, O.M., Brunet, J.,, Ding, Y.C., U Hamann, K. Schmutzler, R.,, Cassini, C, Imyanitov, EN, Hansen, T.V.O. (Thomas), Hansen, T. V. O., Gerdes, A-M,, K. Schmutzler, R., H Deißler, Garcia, E.B. Gomez, Healey, S. (Sue), J-P Fricker, Sinilnikova, O M, C I Szabo, Foretova, L., Garcia, EBG, Gershoni-Baruch, R, Versmold, B.,, Fiebig, B. (Britta), M S Askmalm, Niederacher, D., F Lalloo, Fricker, JP, Zikan, M.,, Douglas, F, Barnett-Griness, O, Miron, A.,, Gomez Garcia, E B,, S Manoukian, Greene, MH, R L Milne, N Ditsch, Piedmonte, M, Kontorovich, T., J Basil, Rodriguez, G C, Chenevix-Trench, G.,, Greene, M.H. (Mark), Osorio, A.,, Friedman, E., Milne, R L,, Hopper, J L, Froster, U. G., R Eeles, Basil, J, Cassini, C. (C.), Blank, S.V., Lynch, H. (Henry), Morrison, P J, A-C Spiess, Spurdle, Amanda B., Spurdle, AB, Lynch, HT, Domchek, S.M. (Susan), v. O. Hansen, Thomas,, Godwin, A K, Ramón Y Cajal, T, Moncoutier, V, T Caldes, Sinilnikova, O M,, Wakeley, K.,, Evans, DG, John, E.M. (Esther), Hogervorst, F.B.L. (Frans), Giraud, S., v. O. Hansen, Thomas, D Yannoukakos, Peyrat, J. P., A Miron, Johannsson, O T, Terry, M. B., Miron, A, L Foretova, Chen, X.,, Piedmonte, M.,, M A Caligo, Fiebig, B, Schaefer, D, S Hodgson, Szabo, C I,, Spiess, A. -C, Kirchhoff, T.,, Andrulis, I L, Daly, M.,, Hogervorst, FBL, Cajal, T. Ramon y,, Oliver, CT, Casella, C., Ditsch, N, R Varon-Mateeva, John, E M, Spiess, A-C,, Group, SWE-BRCA, Gerdes, A.-M., Y Laitman, Pfeiler, G, Fricker, J. -P, Pita, G, Mai, P, Giraud, S.,, Kosarin, K. (Kristi), C Casella, Lejbkowicz, F. (Flavio), Yannoukakos, D. (Drakoulis), X Wang, Claes, K. (Kathleen), Buys, S. M., Révillion, F, Imyanitov, E.N. (Evgeny), Cruger, D. G., Schmutzler, R.K. (Rita), Ramon, Y.Cajal, K Wakeley, P Mai, Nathanson, K.L., Ditsch, N., Lindor, N.,, Arnold, N.,, Group, OCGN, G Rennert, Morrison, P.J., Chenevix-Trench, G, G Pfeiler, Arver, B., B Fiebig, Couch, FJ, Offit, K., Evans, D.G., Schwartz, P.E., Hogervorst, F. B. L., Ouweland, A.M.W. (Ans) van den, Malmer, Beatrice,, Eeles, R, Szabo, C I, Tizzoni, L, Healey, S., Hodgson, S., E. Toland, A., S Verhoef, Benítez, J, Singer, C F,, Montagna, M.,, Foretova, L.,, T Heikkinen, Engel, C, John, E. M., Dagan, E. (Efrat), V Moncoutier, Yannoukakos, D., M H Greene, Toland, A.E. (Amanda), Froster, U G, Domchek, S M,, Neuhausen, S. L., Cajal, T. Ramon y, Rennert, G.,, Kontorovich, T.,, Beesley, J, Meindl, A.,, McGuffog, L.,, Jernstrom, H., Heikkinen, T.,, OCGN, Malmer, B, J T Wijnen, K Kosarin, Johannsson, OT, Schwartz, P E, F. Boggess, J., Garcíla, EBG, Laitman, Y, Yannoukakos, D, Allavena, A.,, Couch, F.J., Hodgson, S.V. (Shirley), C T Oliver, Kontorovich, T, Szabo, CI, Niederacher, D.,, Daly, M., Chen, X, D Muller, Foretova, L, Yassin, Y., Hamann, U., Spurdle, A B, Toland, AE, T Kirchhoff, Wang, X., Peyrat, J.P., John, E M,, Barile, M, M Thomassen, Cruger, D. (Dorthe), Hansen, Thomas v. O., E Dagan, E. Schwartz, P.,, Caligo, M. A., Wakeley, K. (Katie), Buys, S.S. (Saundra), S Buys, Manoukian, S, Brunet, J., Spurdle, A.B., Benitez, J., A K Godwin, M Cook, Neuhausen, SL, Viel, A, Simard, J, Milne, R. L., Casella, C.,, Cohen, S.,, Lindor, N., Cook, J. (Jackie), Healey, S.,, Muller, D.,, M de la Hoya, Stoppa-Lyonnet, D.,, Ding, YC, Couch, F J,, Thomas v O Hansen, Lynch, H T,, CMBA, Thomassen, M.,, Verhoef, S.,, H Jernström, D Gschwantler-Kaulich, Peterlongo, P.,, Imyanitov, E. N., Brunet, J, Toland, A. E., Offit, K. (Kenneth), N Lindor, Rodriguez, G.C. (Gustavo), Arnold, N., Gerdes, A-M, D Schaefer, Garcíla, E.B.G. (E.B. Gómez), Thomassen, M, O T Johannsson, Rennert, G., Yassin, Y, Gershoni-Baruch, R., Cook, J.,, Gschwantler-Kaulich, D., Neuhausen, S L,, K Claes, C. Rodriguez, G.,, Tizzoni, L.,, Barjhoux, L, Revillion, F., Dagan, E.,, John, E.M., Malmer, B. (Beatrice), Brunet, J. (Joan), P E Schwartz, Easton, DF, Fiebig, B., Boggess, J. F., Terry, M.B., Piedmonte, M., Jernstrom, H.,, Hogervorst, F.B.L., Meindl, A. (Alfons), García, Eb Gómez, Blank, S. V., P J Morrison, C Luccarini, Hopper, J.L. (John), Singer, C.F., Casella, C, Singer, C.F. (Christian), Cassini, C.,, Askmalm, M.S. (Marie), Wijnen, J. T., Stenmark Askmalm, Marie,, Hogervorst, F B L,, D Stoppa-Lyonnet, Viel, A.,, Wang, X. (Xing), Spiess, E. (Eberhard), Nathanson, KL, Niederacher, D. (Dieter), Godwin, A.K., Heikkinen, T, Deiler, H. (H.), Verhoef, S., Varon-Mateeva, R., X Chen, H Nevanlinna, Andrulis, I.L., Caligo, M.A., Spiess, A-C, Johannsson, O. T., Lejbkowicz, F., Barile, M., Cohen, S, Sinilnikova, O. (Olga), Fricker, J-P,, Schmutzler, R.K., Olivier-Faivre, L., Goldgar, D. (David), Piedmonte, M. (Marion), Lalloo, F, Basil, J. (Jack), Terry, M B, Arnold, N. (Norbert), F B L Hogervorst, F. Boggess, J.,, Daly, M, Antoniou, A. C., Malmer, B., C. Antoniou, A., Cook, M, Beesley, J., Peock, S.,, Osorio, A. (Ana), B Versmold, Kaufman, B., Wakeley, K, Lynch, H. T., Cook, J, Szabo, C. (Csilla), Varon-Mateeva, R.,, Malmer, B.,, Pichert, G. (Gabriella), Cruger, D G,, Chenevix-Trench, G. (Georgia), R K Schmutzler, Peyrat, J-P, Easton, D F,, Kosarin, K, Oliver, C. T., Friedman, E. (Eitan), J L Hopper, Eeles, R. (Rosalind), Askmalm, MS, Lindor, N.M. (Noralane), Imyanitov, E N, de la Hoya, M, Hopper, J L,, Thomassen, M., Versmold, B. (Beatrix), Ouweland, A.M.W. van den, D G Cruger, Lalloo, F. (Fiona), Peyrat, J.-P., Gerdes, A. -M, Cajal, TRY, Zikan, M. (Michal), Montagna, M. (Marco), Easton, D.F. (Douglas), Lejbkowicz, F.,, Peock, S., Garcíla, E. B.Gómez, Weerasooriya, N., Cohen, S. (Shimrit), Morrison, P.J. (Patrick), Lejbkowicz, F, I L Andrulis, van den Ouweland, A, Ouweland, A. van den, Spurdle, A. B., Peock, S, Wijnen, J T, Hodgson, S, Révillion, F. (Françoise), L Olivier-Faivre, D F Easton, Gerdes, A.M., Luccarini, C., Radice, P. (Paolo), Wijnen, J.T. (Juul), Arver, B, Deissler, H, Domchek, S. M., HEBON, M Daly, M Zikan, V. Blank, S.,, Evans, D. G., Foretova, L. (Lenka), Osorio, A., Terry, M.-B. (Mary-Beth), Rodriguez, G.C., Radice, P., Buys, S.,, Gerdes, AM, Cook, M. (Margaret), Deiler, H., Wijnen, J T,, Cohen, S., Barile, M. (Monica), Frost, D. (Debra), Barnett-Griness, O. (Ofra), Godwin, A. K., T Kontorovich, D Goldgar, N Weerasooriya, Greene, M H,, McGuffog, L, K L Nathanson, G C Rodriguez, T. Johannsson, O., Nordling, Margareta,, Varon-Mateeva, R. (Raymonda), Lindor, N, Neuhausen, S L, Ding, Y.C. (Yuan), Singer, C. F., Spurdle, A.B. (Amanda), Schwartz, P. E., A Viel, C. Antoniou, A.,, Engel, C. (Christoph), Fricker, J.-P., Gschwantler-Kaulich, D, Barile, M.,, L Tizzoni +809 morecore +1 more sourceA New de novo BRCA1 Mutation in a Young Breast Cancer Patient: A Case Report [PDF]
, 2023 BACKGROUND
BRCA1 and BRCA2 genes represent the most investigated breast and ovarian cancer predisposition genes. Ten cases of pathogenic de novo BRCA1 variations and six cases of pathogenic de novo BRCA2 variation have been reported at present.Stoll, Susanna, Amina Scherz, Benno Rothlisberger, Scherz, Amina, Rothlisberger, Benno, Rabaglio, Manuela, Susanna Stoll, Manuela Rabaglio +7 morecore +2 more sourcesA randomised phase III trial of carboplatin compared with docetaxel in BRCA1/2 mutated and pre-specified triple negative breast cancer “BRCAness” subgroups: the TNT Trial
Nature Medicine, 2018 Germline mutations in BRCA1/2 predispose individuals to breast cancer (termed germline-mutated BRCA1/2 breast cancer, gBRCA-BC) by impairing homologous recombination (HR) and causing genomic instability.A. Tutt, H. Tovey, M. Cheang, S. Kernaghan, L. Kilburn, P. Gazinska, J. Owen, J. Abraham, S. Barrett, P. Barrett-Lee, Robert Brown, S. Chan, M. Dowsett, J. Flanagan, Lisa Fox, A. Grigoriadis, A. Gutin, C. Harper-wynne, M. Hatton, K. Hoadley, J. Parikh, P. Parker, C. Perou, R. Roylance, Vandna Shah, A. Shaw, I. Smith, K. Timms, A. Wardley, G. Wilson, C. Gillett, J. Lanchbury, A. Ashworth, N. Rahman, M. Harries, P. Ellis, S. Pinder, J. Bliss +37 moresemanticscholar +1 more sourceNF-κB regulates DNA double-strand break repair in conjunction with BRCA1-CtIP complexes [PDF]
, 2011 NF-κB is involved in immune responses, inflammation, oncogenesis, cell proliferation and apoptosis. Even though NF-κB can be activated by DNA damage via Ataxia telangiectasia-mutated (ATM) signalling, little was known about an involvement in DNA repair ...Salles, Daniela, Bernd Baumann, Lisa Wiesmüller, Volcic, Meta, Fulda, Simone, Meta Volcic, Volcic, M., Wiesmueller, L., Baumann, B., Daniel, P., Sabine Karl, Simone Fulda, Daniela Salles, Peter Daniel, Karl, Sabine, Baumann, Bernd, Fulda, S., Salles, D., Karl, S., Daniel, Peter, Wiesmüller, Lisa +20 morecore +1 more sourceEuropean guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender
BJS (British Journal of Surgery), EarlyView., 2020 Recommendations for clinical and molecular identification of LS, surgical and endoscopic management of LS‐associated colorectal cancer and preventive measures for cancer were produced. The emphasis was on surgical and gastroenterological aspects of the cancer spectrum.T. T. Seppälä, A. Latchford, I. Negoi, A. Sampaio Soares, R. Jimenez‐Rodriguez, L. Sánchez‐Guillén, D. G. Evans, N. Ryan, E. J. Crosbie, M. Dominguez‐Valentin, J. Burn, M. Kloor, M. von Knebel Doeberitz, F. J. B. van Duijnhoven, P. Quirke, J. R. Sampson, P. Møller, G. Möslein, on behalf of the European Hereditary Tumour Group (EHTG) and European Society of Coloproctology (ESCP) +18 morewiley +1 more source
