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Common Genetic Variation in Circadian Rhythm Genes and Risk of Epithelial Ovarian Cancer (EOC).

Journal of genetics and genome research

Jim HS, Lin HY, Tyrer JP, Lawrenson K, Dennis J, Chornokur G, Chen Z, Chen AY, Permuth-Wey J, Aben KK, Anton-Culver H, Antonenkova N, Bruinsma F, Bandera EV, Bean YT, Beckmann MW, Bisogna M, Bjorge L, Bogdanova N, Brinton LA, Brooks-Wilson A, Bunker CH, Butzow R, Campbell IG, Carty K, Chang-Claude J, Cook LS, Cramer DW, Cunningham JM, Cybulski C, Dansonka-Mieszkowska A, du Bois A, Despierre E, Sieh W, Doherty JA, Dörk T, Dürst M, Easton DF, Eccles DM, Edwards RP, Ekici AB, Fasching PA, Fridley BL, Gao YT, Gentry-Maharaj A, Giles GG, Glasspool R, Goodman MT, Gronwald J, Harter P, Hasmad HN, Hein A, Heitz F, Hildebrandt MA, Hillemanns P, Hogdall CK, Hogdall E, Hosono S, Iversen ES, Jakubowska A, Jensen A, Ji BT, Karlan BY, Kellar M, Kiemeney LA, Krakstad C, Kjaer SK, Kupryjanczyk J, Vierkant RA, Lambrechts D, Lambrechts S, Le ND, Lee AW, Lele S, Leminen A, Lester J, Levine DA, Liang D, Lim BK, Lissowska J, Lu K, Lubinski J, Lundvall L, Massuger LF, Matsuo K, McGuire V, McLaughlin JR, McNeish I, Menon U, Milne RL, Modugno F, Thomsen L, Moysich KB, Ness RB, Nevanlinna H, Eilber U, Odunsi K, Olson SH, Orlow I, Orsulic S, Palmieri Weber R, Paul J, Pearce CL, Pejovic T, Pelttari LM, Pike MC, Poole EM, Schernhammer E, Risch HA, Rosen B, Rossing MA, Rothstein JH, Rudolph A, Runnebaum IB, Rzepecka IK, Salvesen HB, Schwaab I, Shu XO, Shvetsov YB, Siddiqui N, Song H, Southey MC, Spiewankiewicz B, Sucheston-Campbell L, Teo SH, Terry KL, Thompson PJ, Tangen IL, Tworoger SS, van Altena AM, Vergote I, Walsh CS, Wang-Gohrke S, Wentzensen N, Whittemore AS, Wicklund KG, Wilkens LR, Wu AH, Wu X, Woo YL, Yang H, Zheng W, Ziogas A, Amankwah E, Berchuck A, Schildkraut JM, Kelemen LE, Ramus SJ, Monteiro AN, Goode EL, Narod SA, Gayther SA, Pharoah PD, Sellers TA, Phelan CM.
PMID: 26807442
J Genet Genome Res. 2015;2(2). doi: 10.23937/2378-3648/1410017. Epub 2015 Sep 15.

Disruption in circadian gene expression, whether due to genetic variation or environmental factors (e.g., light at night, shiftwork), is associated with increased incidence of breast, prostate, gastrointestinal and hematologic cancers and gliomas. Circadian genes are highly expressed in the...

Cite
Jim HS, Lin HY, Tyrer JP, et al. Common Genetic Variation in Circadian Rhythm Genes and Risk of Epithelial Ovarian Cancer (EOC). J Genet Genome Res. 2015;2(2)doi: 10.23937/2378-3648/1410017.
Jim, H. S., Lin, H. Y., Tyrer, J. P., Lawrenson, K., Dennis, J., Chornokur, G., Chen, Z., Chen, A. Y., Permuth-Wey, J., Aben, K. K., Anton-Culver, H., Antonenkova, N., Bruinsma, F., Bandera, E. V., Bean, Y. T., Beckmann, M. W., Bisogna, M., Bjorge, L., Bogdanova, N., Brinton, L. A., Brooks-Wilson, A., Bunker, C. H., Butzow, R., Campbell, I. G., Carty, K., Chang-Claude, J., Cook, L. S., Cramer, D. W., Cunningham, J. M., Cybulski, C., Dansonka-Mieszkowska, A., du Bois, A., Despierre, E., Sieh, W., Doherty, J. A., Dörk, T., Dürst, M., Easton, D. F., Eccles, D. M., Edwards, R. P., Ekici, A. B., Fasching, P. A., Fridley, B. L., Gao, Y. T., Gentry-Maharaj, A., Giles, G. G., Glasspool, R., Goodman, M. T., Gronwald, J., Harter, P., Hasmad, H. N., Hein, A., Heitz, F., Hildebrandt, M. A., Hillemanns, P., Hogdall, C. K., Hogdall, E., Hosono, S., Iversen, E. S., Jakubowska, A., Jensen, A., Ji, B. T., Karlan, B. Y., Kellar, M., Kiemeney, L. A., Krakstad, C., Kjaer, S. K., Kupryjanczyk, J., Vierkant, R. A., Lambrechts, D., Lambrechts, S., Le, N. D., Lee, A. W., Lele, S., Leminen, A., Lester, J., Levine, D. A., Liang, D., Lim, B. K., Lissowska, J., Lu, K., Lubinski, J., Lundvall, L., Massuger, L. F., Matsuo, K., McGuire, V., McLaughlin, J. R., McNeish, I., Menon, U., Milne, R. L., Modugno, F., Thomsen, L., Moysich, K. B., Ness, R. B., Nevanlinna, H., Eilber, U., Odunsi, K., Olson, S. H., Orlow, I., Orsulic, S., Palmieri Weber, R., Paul, J., Pearce, C. L., Pejovic, T., Pelttari, L. M., Pike, M. C., Poole, E. M., Schernhammer, E., Risch, H. A., Rosen, B., Rossing, M. A., Rothstein, J. H., Rudolph, A., Runnebaum, I. B., Rzepecka, I. K., Salvesen, H. B., Schwaab, I., Shu, X. O., Shvetsov, Y. B., Siddiqui, N., Song, H., Southey, M. C., Spiewankiewicz, B., Sucheston-Campbell, L., Teo, S. H., Terry, K. L., Thompson, P. J., Tangen, I. L., Tworoger, S. S., van Altena, A. M., Vergote, I., Walsh, C. S., Wang-Gohrke, S., Wentzensen, N., Whittemore, A. S., Wicklund, K. G., Wilkens, L. R., Wu, A. H., Wu, X., Woo, Y. L., Yang, H., Zheng, W., Ziogas, A., Amankwah, E., Berchuck, A., Schildkraut, J. M., Kelemen, L. E., Ramus, S. J., Monteiro, A. N., Goode, E. L., Narod, S. A., Gayther, S. A., Pharoah, P. D., Sellers, T. A., & Phelan, C. M. (2015). Common Genetic Variation in Circadian Rhythm Genes and Risk of Epithelial Ovarian Cancer (EOC). Journal of genetics and genome research, 2(2), . https://doi.org/10.23937/2378-3648/1410017
Jim, Heather S L, et al. "Common Genetic Variation in Circadian Rhythm Genes and Risk of Epithelial Ovarian Cancer (EOC)." Journal of genetics and genome research vol. 2,2 (2015). doi: https://doi.org/10.23937/2378-3648/1410017
Jim HS, Lin HY, Tyrer JP, Lawrenson K, Dennis J, Chornokur G, Chen Z, Chen AY, Permuth-Wey J, Aben KK, Anton-Culver H, Antonenkova N, Bruinsma F, Bandera EV, Bean YT, Beckmann MW, Bisogna M, Bjorge L, Bogdanova N, Brinton LA, Brooks-Wilson A, Bunker CH, Butzow R, Campbell IG, Carty K, Chang-Claude J, Cook LS, Cramer DW, Cunningham JM, Cybulski C, Dansonka-Mieszkowska A, du Bois A, Despierre E, Sieh W, Doherty JA, Dörk T, Dürst M, Easton DF, Eccles DM, Edwards RP, Ekici AB, Fasching PA, Fridley BL, Gao YT, Gentry-Maharaj A, Giles GG, Glasspool R, Goodman MT, Gronwald J, Harter P, Hasmad HN, Hein A, Heitz F, Hildebrandt MA, Hillemanns P, Hogdall CK, Hogdall E, Hosono S, Iversen ES, Jakubowska A, Jensen A, Ji BT, Karlan BY, Kellar M, Kiemeney LA, Krakstad C, Kjaer SK, Kupryjanczyk J, Vierkant RA, Lambrechts D, Lambrechts S, Le ND, Lee AW, Lele S, Leminen A, Lester J, Levine DA, Liang D, Lim BK, Lissowska J, Lu K, Lubinski J, Lundvall L, Massuger LF, Matsuo K, McGuire V, McLaughlin JR, McNeish I, Menon U, Milne RL, Modugno F, Thomsen L, Moysich KB, Ness RB, Nevanlinna H, Eilber U, Odunsi K, Olson SH, Orlow I, Orsulic S, Palmieri Weber R, Paul J, Pearce CL, Pejovic T, Pelttari LM, Pike MC, Poole EM, Schernhammer E, Risch HA, Rosen B, Rossing MA, Rothstein JH, Rudolph A, Runnebaum IB, Rzepecka IK, Salvesen HB, Schwaab I, Shu XO, Shvetsov YB, Siddiqui N, Song H, Southey MC, Spiewankiewicz B, Sucheston-Campbell L, Teo SH, Terry KL, Thompson PJ, Tangen IL, Tworoger SS, van Altena AM, Vergote I, Walsh CS, Wang-Gohrke S, Wentzensen N, Whittemore AS, Wicklund KG, Wilkens LR, Wu AH, Wu X, Woo YL, Yang H, Zheng W, Ziogas A, Amankwah E, Berchuck A, Schildkraut JM, Kelemen LE, Ramus SJ, Monteiro AN, Goode EL, Narod SA, Gayther SA, Pharoah PD, Sellers TA, Phelan CM. Common Genetic Variation in Circadian Rhythm Genes and Risk of Epithelial Ovarian Cancer (EOC). J Genet Genome Res. 2015;2(2). doi: 10.23937/2378-3648/1410017. Epub 2015 Sep 15. PMID: 26807442; PMCID: PMC4722961.
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Corrigendum: Common variants at 19p13 are associated with susceptibility to ovarian cancer.

Nature genetics

Bolton KL, Tyrer J, Song H, Ramus SJ, Notaridou M, Jones C, Sher T, Gentry-Maharaj A, Wozniak E, Tsai YY, Weidhaas J, Paik D, Van Den Berg DJ, Stram DO, Pearce CL, Wu AH, Brewster W, Anton-Culver H, Ziogas A, Narod SA, Levine DA, Kaye SB, Brown R, Paul J, Flanagan J, Sieh W, McGuire V, Whittemore AS, Campbell I, Gore ME, Lissowska J, Yang HP, Medrek K, Gronwald J, Lubinski J, Jakubowska A, Le ND, Cook LS, Kelemen LE, Brooks-Wilson A, Massuger LF, Kiemeney LA, Aben KK, van Altena AM, Houlston R, Tomlinson I, Palmieri RT, Moorman PG, Schildkraut J, Iversen ES, Phelan C, Vierkant RA, Cunningham JM, Goode EL, Fridley BL, Kruger-Kjaer S, Blaeker J, Hogdall E, Hogdall C, Gross J, Karlan BY, Ness RB, Edwards RP, Odunsi K, Moyisch KB, Baker JA, Modugno F, Heikkinenen T, Butzow R, Nevanlinna H, Leminen A, Bogdanova N, Antonenkova N, Doerk T, Hillemanns P, Dürst M, Runnebaum I, Thompson PJ, Carney ME, Goodman MT, Lurie G, Wang-Gohrke S, Hein R, Chang-Claude J, Rossing MA, Cushing-Haugen KL, Doherty J, Chen C, Rafnar T, Besenbacher S, Sulem P, Stefansson K, Birrer MJ, Terry KL, Hernandez D, Cramer DW, Vergote I, Amant F, Lambrechts D, Despierre E, Fasching PA, Beckmann MW, Thiel FC, Ekici AB, Chen X, Johnatty SE, Webb PM, Beesley J, Chanock S, Garcia-Closas M, Sellers T, Easton DF, Berchuck A, Chenevix-Trench G, Pharoah PD, Gayther SA.
PMID: 26711112
Nat Genet. 2016 Jan;48(1):101. doi: 10.1038/ng0116-101b.

No abstract available.

Cite
Bolton KL, Tyrer J, Song H, et al. Corrigendum: Common variants at 19p13 are associated with susceptibility to ovarian cancer. Nat Genet. 2016;48(1):101doi: 10.1038/ng0116-101b.
Bolton, K. L., Tyrer, J., Song, H., Ramus, S. J., Notaridou, M., Jones, C., Sher, T., Gentry-Maharaj, A., Wozniak, E., Tsai, Y. Y., Weidhaas, J., Paik, D., Van Den Berg, D. J., Stram, D. O., Pearce, C. L., Wu, A. H., Brewster, W., Anton-Culver, H., Ziogas, A., Narod, S. A., Levine, D. A., Kaye, S. B., Brown, R., Paul, J., Flanagan, J., Sieh, W., McGuire, V., Whittemore, A. S., Campbell, I., Gore, M. E., Lissowska, J., Yang, H. P., Medrek, K., Gronwald, J., Lubinski, J., Jakubowska, A., Le, N. D., Cook, L. S., Kelemen, L. E., Brooks-Wilson, A., Massuger, L. F., Kiemeney, L. A., Aben, K. K., van Altena, A. M., Houlston, R., Tomlinson, I., Palmieri, R. T., Moorman, P. G., Schildkraut, J., Iversen, E. S., Phelan, C., Vierkant, R. A., Cunningham, J. M., Goode, E. L., Fridley, B. L., Kruger-Kjaer, S., Blaeker, J., Hogdall, E., Hogdall, C., Gross, J., Karlan, B. Y., Ness, R. B., Edwards, R. P., Odunsi, K., Moyisch, K. B., Baker, J. A., Modugno, F., Heikkinenen, T., Butzow, R., Nevanlinna, H., Leminen, A., Bogdanova, N., Antonenkova, N., Doerk, T., Hillemanns, P., Dürst, M., Runnebaum, I., Thompson, P. J., Carney, M. E., Goodman, M. T., Lurie, G., Wang-Gohrke, S., Hein, R., Chang-Claude, J., Rossing, M. A., Cushing-Haugen, K. L., Doherty, J., Chen, C., Rafnar, T., Besenbacher, S., Sulem, P., Stefansson, K., Birrer, M. J., Terry, K. L., Hernandez, D., Cramer, D. W., Vergote, I., Amant, F., Lambrechts, D., Despierre, E., Fasching, P. A., Beckmann, M. W., Thiel, F. C., Ekici, A. B., Chen, X., Johnatty, S. E., Webb, P. M., Beesley, J., Chanock, S., Garcia-Closas, M., Sellers, T., Easton, D. F., Berchuck, A., Chenevix-Trench, G., Pharoah, P. D., & Gayther, S. A. (2016). Corrigendum: Common variants at 19p13 are associated with susceptibility to ovarian cancer. Nature genetics, 48(1), 101. https://doi.org/10.1038/ng0116-101b
Bolton, Kelly L, et al. "Corrigendum: Common variants at 19p13 are associated with susceptibility to ovarian cancer." Nature genetics vol. 48,1 (2016): 101. doi: https://doi.org/10.1038/ng0116-101b
Bolton KL, Tyrer J, Song H, Ramus SJ, Notaridou M, Jones C, Sher T, Gentry-Maharaj A, Wozniak E, Tsai YY, Weidhaas J, Paik D, Van Den Berg DJ, Stram DO, Pearce CL, Wu AH, Brewster W, Anton-Culver H, Ziogas A, Narod SA, Levine DA, Kaye SB, Brown R, Paul J, Flanagan J, Sieh W, McGuire V, Whittemore AS, Campbell I, Gore ME, Lissowska J, Yang HP, Medrek K, Gronwald J, Lubinski J, Jakubowska A, Le ND, Cook LS, Kelemen LE, Brooks-Wilson A, Massuger LF, Kiemeney LA, Aben KK, van Altena AM, Houlston R, Tomlinson I, Palmieri RT, Moorman PG, Schildkraut J, Iversen ES, Phelan C, Vierkant RA, Cunningham JM, Goode EL, Fridley BL, Kruger-Kjaer S, Blaeker J, Hogdall E, Hogdall C, Gross J, Karlan BY, Ness RB, Edwards RP, Odunsi K, Moyisch KB, Baker JA, Modugno F, Heikkinenen T, Butzow R, Nevanlinna H, Leminen A, Bogdanova N, Antonenkova N, Doerk T, Hillemanns P, Dürst M, Runnebaum I, Thompson PJ, Carney ME, Goodman MT, Lurie G, Wang-Gohrke S, Hein R, Chang-Claude J, Rossing MA, Cushing-Haugen KL, Doherty J, Chen C, Rafnar T, Besenbacher S, Sulem P, Stefansson K, Birrer MJ, Terry KL, Hernandez D, Cramer DW, Vergote I, Amant F, Lambrechts D, Despierre E, Fasching PA, Beckmann MW, Thiel FC, Ekici AB, Chen X, Johnatty SE, Webb PM, Beesley J, Chanock S, Garcia-Closas M, Sellers T, Easton DF, Berchuck A, Chenevix-Trench G, Pharoah PD, Gayther SA. Corrigendum: Common variants at 19p13 are associated with susceptibility to ovarian cancer. Nat Genet. 2016 Jan;48(1):101. doi: 10.1038/ng0116-101b. PMID: 26711112.
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Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores.

Journal of the National Cancer Institute

Barnes DR, Silvestri V, Leslie G, McGuffog L, Dennis J, Yang X, Adlard J, Agnarsson BA, Ahmed M, Aittomäki K, Andrulis IL, Arason A, Arnold N, Auber B, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Barwell J, Belotti M, Benitez J, Berthet P, Boonen SE, Borg Å, Bozsik A, Brady AF, Brennan P, Brewer C, Brunet J, Bucalo A, Buys SS, Caldés T, Caligo MA, Campbell I, Cassingham H, Christensen LL, Cini G, Claes KBM, Cook J, Coppa A, Cortesi L, Damante G, Darder E, Davidson R, de la Hoya M, De Leeneer K, de Putter R, Del Valle J, Diez O, Ding YC, Domchek SM, Donaldson A, Eason J, Eeles R, Engel C, Evans DG, Feliubadaló L, Fostira F, Frone M, Frost D, Gallagher D, Gehrig A, Giraud S, Glendon G, Godwin AK, Goldgar DE, Greene MH, Gregory H, Gross E, Hahnen E, Hamann U, Hansen TVO, Hanson H, Hentschel J, Horvath J, Izatt L, Izquierdo A, James PA, Janavicius R, Jensen UB, Johannsson OT, John EM, Kramer G, Kroeldrup L, Kruse TA, Lautrup C, Lazaro C, Lesueur F, Lopez-Fernández A, Mai PL, Manoukian S, Matrai Z, Matricardi L, Maxwell KN, Mebirouk N, Meindl A, Montagna M, Monteiro AN, Morrison PJ, Muranen TA, Murray A, Nathanson KL, Neuhausen SL, Nevanlinna H, Nguyen-Dumont T, Niederacher D, Olah E, Olopade OI, Palli D, Parsons MT, Pedersen IS, Peissel B, Perez-Segura P, Peterlongo P, Petersen AH, Pinto P, Porteous ME, Pottinger C, Pujana MA, Radice P, Ramser J, Rantala J, Robson M, Rogers MT, Rønlund K, Rump A, Sánchez de Abajo AM, Shah PD, Sharif S, Side LE, Singer CF, Stadler Z, Steele L, Stoppa-Lyonnet D, Sutter C, Tan YY, Teixeira MR, Teulé A, Thull DL, Tischkowitz M, Toland AE, Tommasi S, Toss A, Trainer AH, Tripathi V, Valentini V, van Asperen CJ, Venturelli M, Viel A, Vijai J, Walker L, Wang-Gohrke S, Wappenschmidt B, Whaite A, Zanna I, Offit K, Thomassen M, Couch FJ, Schmutzler RK, Simard J, Easton DF, Chenevix-Trench G, Antoniou AC, Ottini L.
PMID: 34320204
J Natl Cancer Inst. 2022 Jan 11;114(1):109-122. doi: 10.1093/jnci/djab147.

BACKGROUND: Recent population-based female breast cancer and prostate cancer polygenic risk scores (PRS) have been developed. We assessed the associations of these PRS with breast and prostate cancer risks for male BRCA1 and BRCA2 pathogenic variant carriers.METHODS: 483 BRCA1...

Cite
Barnes DR, Silvestri V, Leslie G, et al. Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores. J Natl Cancer Inst. 2022;114(1):109-122doi: 10.1093/jnci/djab147.
Barnes, D. R., Silvestri, V., Leslie, G., McGuffog, L., Dennis, J., Yang, X., Adlard, J., Agnarsson, B. A., Ahmed, M., Aittomäki, K., Andrulis, I. L., Arason, A., Arnold, N., Auber, B., Azzollini, J., Balmaña, J., Barkardottir, R. B., Barrowdale, D., Barwell, J., Belotti, M., Benitez, J., Berthet, P., Boonen, S. E., Borg, �. �., Bozsik, A., Brady, A. F., Brennan, P., Brewer, C., Brunet, J., Bucalo, A., Buys, S. S., Caldés, T., Caligo, M. A., Campbell, I., Cassingham, H., Christensen, L. L., Cini, G., Claes, K. B. M., Cook, J., Coppa, A., Cortesi, L., Damante, G., Darder, E., Davidson, R., de la Hoya, M., De Leeneer, K., de Putter, R., Del Valle, J., Diez, O., Ding, Y. C., Domchek, S. M., Donaldson, A., Eason, J., Eeles, R., Engel, C., Evans, D. G., Feliubadaló, L., Fostira, F., Frone, M., Frost, D., Gallagher, D., Gehrig, A., Giraud, S., Glendon, G., Godwin, A. K., Goldgar, D. E., Greene, M. H., Gregory, H., Gross, E., Hahnen, E., Hamann, U., Hansen, T. V. O., Hanson, H., Hentschel, J., Horvath, J., Izatt, L., Izquierdo, A., James, P. A., Janavicius, R., Jensen, U. B., Johannsson, O. T., John, E. M., Kramer, G., Kroeldrup, L., Kruse, T. A., Lautrup, C., Lazaro, C., Lesueur, F., Lopez-Fernández, A., Mai, P. L., Manoukian, S., Matrai, Z., Matricardi, L., Maxwell, K. N., Mebirouk, N., Meindl, A., Montagna, M., Monteiro, A. N., Morrison, P. J., Muranen, T. A., Murray, A., Nathanson, K. L., Neuhausen, S. L., Nevanlinna, H., Nguyen-Dumont, T., Niederacher, D., Olah, E., Olopade, O. I., Palli, D., Parsons, M. T., Pedersen, I. S., Peissel, B., Perez-Segura, P., Peterlongo, P., Petersen, A. H., Pinto, P., Porteous, M. E., Pottinger, C., Pujana, M. A., Radice, P., Ramser, J., Rantala, J., Robson, M., Rogers, M. T., Rønlund, K., Rump, A., Sánchez de Abajo, A. M., Shah, P. D., Sharif, S., Side, L. E., Singer, C. F., Stadler, Z., Steele, L., Stoppa-Lyonnet, D., Sutter, C., Tan, Y. Y., Teixeira, M. R., Teulé, A., Thull, D. L., Tischkowitz, M., Toland, A. E., Tommasi, S., Toss, A., Trainer, A. H., Tripathi, V., Valentini, V., van Asperen, C. J., Venturelli, M., Viel, A., Vijai, J., Walker, L., Wang-Gohrke, S., Wappenschmidt, B., Whaite, A., Zanna, I., Offit, K., Thomassen, M., Couch, F. J., Schmutzler, R. K., Simard, J., Easton, D. F., Chenevix-Trench, G., Antoniou, A. C., Ottini, L. (2022). Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores. Journal of the National Cancer Institute, 114(1), 109-122. https://doi.org/10.1093/jnci/djab147
Barnes, Daniel R, et al. "Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores." Journal of the National Cancer Institute vol. 114,1 (2022): 109-122. doi: https://doi.org/10.1093/jnci/djab147
Barnes DR, Silvestri V, Leslie G, McGuffog L, Dennis J, Yang X, Adlard J, Agnarsson BA, Ahmed M, Aittomäki K, Andrulis IL, Arason A, Arnold N, Auber B, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Barwell J, Belotti M, Benitez J, Berthet P, Boonen SE, Borg Å, Bozsik A, Brady AF, Brennan P, Brewer C, Brunet J, Bucalo A, Buys SS, Caldés T, Caligo MA, Campbell I, Cassingham H, Christensen LL, Cini G, Claes KBM, Cook J, Coppa A, Cortesi L, Damante G, Darder E, Davidson R, de la Hoya M, De Leeneer K, de Putter R, Del Valle J, Diez O, Ding YC, Domchek SM, Donaldson A, Eason J, Eeles R, Engel C, Evans DG, Feliubadaló L, Fostira F, Frone M, Frost D, Gallagher D, Gehrig A, Giraud S, Glendon G, Godwin AK, Goldgar DE, Greene MH, Gregory H, Gross E, Hahnen E, Hamann U, Hansen TVO, Hanson H, Hentschel J, Horvath J, Izatt L, Izquierdo A, James PA, Janavicius R, Jensen UB, Johannsson OT, John EM, Kramer G, Kroeldrup L, Kruse TA, Lautrup C, Lazaro C, Lesueur F, Lopez-Fernández A, Mai PL, Manoukian S, Matrai Z, Matricardi L, Maxwell KN, Mebirouk N, Meindl A, Montagna M, Monteiro AN, Morrison PJ, Muranen TA, Murray A, Nathanson KL, Neuhausen SL, Nevanlinna H, Nguyen-Dumont T, Niederacher D, Olah E, Olopade OI, Palli D, Parsons MT, Pedersen IS, Peissel B, Perez-Segura P, Peterlongo P, Petersen AH, Pinto P, Porteous ME, Pottinger C, Pujana MA, Radice P, Ramser J, Rantala J, Robson M, Rogers MT, Rønlund K, Rump A, Sánchez de Abajo AM, Shah PD, Sharif S, Side LE, Singer CF, Stadler Z, Steele L, Stoppa-Lyonnet D, Sutter C, Tan YY, Teixeira MR, Teulé A, Thull DL, Tischkowitz M, Toland AE, Tommasi S, Toss A, Trainer AH, Tripathi V, Valentini V, van Asperen CJ, Venturelli M, Viel A, Vijai J, Walker L, Wang-Gohrke S, Wappenschmidt B, Whaite A, Zanna I, Offit K, Thomassen M, Couch FJ, Schmutzler RK, Simard J, Easton DF, Chenevix-Trench G, Antoniou AC, Ottini L. Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores. J Natl Cancer Inst. 2022 Jan 11;114(1):109-122. doi: 10.1093/jnci/djab147. PMID: 34320204; PMCID: PMC8755508.
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Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores.

Journal of the National Cancer Institute

Barnes DR, Silvestri V, Leslie G, McGuffog L, Dennis J, Yang X, Adlard J, Agnarsson BA, Ahmed M, Aittomäki K, Andrulis IL, Arason A, Arnold N, Auber B, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Barwell J, Belotti M, Benitez J, Berthet P, Boonen SE, Borg Å, Bozsik A, Brady AF, Brennan P, Brewer C, Brunet J, Bucalo A, Buys SS, Caldés T, Caligo MA, Campbell I, Cassingham H, Christensen LL, Cini G, Claes KBM, Cook J, Coppa A, Cortesi L, Damante G, Darder E, Davidson R, de la Hoya M, De Leeneer K, de Putter R, Del Valle J, Diez O, Ding YC, Domchek SM, Donaldson A, Eason J, Eeles R, Engel C, Evans DG, Feliubadaló L, Fostira F, Frone M, Frost D, Gallagher D, Gehrig A, Giraud S, Glendon G, Godwin AK, Goldgar DE, Greene MH, Gregory H, Gross E, Hahnen E, Hamann U, Hansen TVO, Hanson H, Hentschel J, Horvath J, Izatt L, Izquierdo A, James PA, Janavicius R, Jensen UB, Johannsson OT, John EM, Kramer G, Kroeldrup L, Kruse TA, Lautrup C, Lazaro C, Lesueur F, Lopez-Fernández A, Mai PL, Manoukian S, Matrai Z, Matricardi L, Maxwell KN, Mebirouk N, Meindl A, Montagna M, Monteiro AN, Morrison PJ, Muranen TA, Murray A, Nathanson KL, Neuhausen SL, Nevanlinna H, Nguyen-Dumont T, Niederacher D, Olah E, Olopade OI, Palli D, Parsons MT, Pedersen IS, Peissel B, Perez-Segura P, Peterlongo P, Petersen AH, Pinto P, Porteous ME, Pottinger C, Pujana MA, Radice P, Ramser J, Rantala J, Robson M, Rogers MT, Rønlund K, Rump A, Sánchez de Abajo AM, Shah PD, Sharif S, Side LE, Singer CF, Stadler Z, Steele L, Stoppa-Lyonnet D, Sutter C, Tan YY, Teixeira MR, Teulé A, Thull DL, Tischkowitz M, Toland AE, Tommasi S, Toss A, Trainer AH, Tripathi V, Valentini V, van Asperen CJ, Venturelli M, Viel A, Vijai J, Walker L, Wang-Gohrke S, Wappenschmidt B, Whaite A, Zanna I, Offit K, Thomassen M, Couch FJ, Schmutzler RK, Simard J, Easton DF, Chenevix-Trench G, Antoniou AC, Ottini L.
PMID: 34320204
J Natl Cancer Inst. 2022 Jan 11;114(1):109-122. doi: 10.1093/jnci/djab147.

BACKGROUND: Recent population-based female breast cancer and prostate cancer polygenic risk scores (PRS) have been developed. We assessed the associations of these PRS with breast and prostate cancer risks for male BRCA1 and BRCA2 pathogenic variant carriers.METHODS: 483 BRCA1...

Cite
Barnes DR, Silvestri V, Leslie G, et al. Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores. J Natl Cancer Inst. 2022;114(1):109-122doi: 10.1093/jnci/djab147.
Barnes, D. R., Silvestri, V., Leslie, G., McGuffog, L., Dennis, J., Yang, X., Adlard, J., Agnarsson, B. A., Ahmed, M., Aittomäki, K., Andrulis, I. L., Arason, A., Arnold, N., Auber, B., Azzollini, J., Balmaña, J., Barkardottir, R. B., Barrowdale, D., Barwell, J., Belotti, M., Benitez, J., Berthet, P., Boonen, S. E., Borg, �. �., Bozsik, A., Brady, A. F., Brennan, P., Brewer, C., Brunet, J., Bucalo, A., Buys, S. S., Caldés, T., Caligo, M. A., Campbell, I., Cassingham, H., Christensen, L. L., Cini, G., Claes, K. B. M., Cook, J., Coppa, A., Cortesi, L., Damante, G., Darder, E., Davidson, R., de la Hoya, M., De Leeneer, K., de Putter, R., Del Valle, J., Diez, O., Ding, Y. C., Domchek, S. M., Donaldson, A., Eason, J., Eeles, R., Engel, C., Evans, D. G., Feliubadaló, L., Fostira, F., Frone, M., Frost, D., Gallagher, D., Gehrig, A., Giraud, S., Glendon, G., Godwin, A. K., Goldgar, D. E., Greene, M. H., Gregory, H., Gross, E., Hahnen, E., Hamann, U., Hansen, T. V. O., Hanson, H., Hentschel, J., Horvath, J., Izatt, L., Izquierdo, A., James, P. A., Janavicius, R., Jensen, U. B., Johannsson, O. T., John, E. M., Kramer, G., Kroeldrup, L., Kruse, T. A., Lautrup, C., Lazaro, C., Lesueur, F., Lopez-Fernández, A., Mai, P. L., Manoukian, S., Matrai, Z., Matricardi, L., Maxwell, K. N., Mebirouk, N., Meindl, A., Montagna, M., Monteiro, A. N., Morrison, P. J., Muranen, T. A., Murray, A., Nathanson, K. L., Neuhausen, S. L., Nevanlinna, H., Nguyen-Dumont, T., Niederacher, D., Olah, E., Olopade, O. I., Palli, D., Parsons, M. T., Pedersen, I. S., Peissel, B., Perez-Segura, P., Peterlongo, P., Petersen, A. H., Pinto, P., Porteous, M. E., Pottinger, C., Pujana, M. A., Radice, P., Ramser, J., Rantala, J., Robson, M., Rogers, M. T., Rønlund, K., Rump, A., Sánchez de Abajo, A. M., Shah, P. D., Sharif, S., Side, L. E., Singer, C. F., Stadler, Z., Steele, L., Stoppa-Lyonnet, D., Sutter, C., Tan, Y. Y., Teixeira, M. R., Teulé, A., Thull, D. L., Tischkowitz, M., Toland, A. E., Tommasi, S., Toss, A., Trainer, A. H., Tripathi, V., Valentini, V., van Asperen, C. J., Venturelli, M., Viel, A., Vijai, J., Walker, L., Wang-Gohrke, S., Wappenschmidt, B., Whaite, A., Zanna, I., Offit, K., Thomassen, M., Couch, F. J., Schmutzler, R. K., Simard, J., Easton, D. F., Chenevix-Trench, G., Antoniou, A. C., Ottini, L. (2022). Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores. Journal of the National Cancer Institute, 114(1), 109-122. https://doi.org/10.1093/jnci/djab147
Barnes, Daniel R, et al. "Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores." Journal of the National Cancer Institute vol. 114,1 (2022): 109-122. doi: https://doi.org/10.1093/jnci/djab147
Barnes DR, Silvestri V, Leslie G, McGuffog L, Dennis J, Yang X, Adlard J, Agnarsson BA, Ahmed M, Aittomäki K, Andrulis IL, Arason A, Arnold N, Auber B, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Barwell J, Belotti M, Benitez J, Berthet P, Boonen SE, Borg Å, Bozsik A, Brady AF, Brennan P, Brewer C, Brunet J, Bucalo A, Buys SS, Caldés T, Caligo MA, Campbell I, Cassingham H, Christensen LL, Cini G, Claes KBM, Cook J, Coppa A, Cortesi L, Damante G, Darder E, Davidson R, de la Hoya M, De Leeneer K, de Putter R, Del Valle J, Diez O, Ding YC, Domchek SM, Donaldson A, Eason J, Eeles R, Engel C, Evans DG, Feliubadaló L, Fostira F, Frone M, Frost D, Gallagher D, Gehrig A, Giraud S, Glendon G, Godwin AK, Goldgar DE, Greene MH, Gregory H, Gross E, Hahnen E, Hamann U, Hansen TVO, Hanson H, Hentschel J, Horvath J, Izatt L, Izquierdo A, James PA, Janavicius R, Jensen UB, Johannsson OT, John EM, Kramer G, Kroeldrup L, Kruse TA, Lautrup C, Lazaro C, Lesueur F, Lopez-Fernández A, Mai PL, Manoukian S, Matrai Z, Matricardi L, Maxwell KN, Mebirouk N, Meindl A, Montagna M, Monteiro AN, Morrison PJ, Muranen TA, Murray A, Nathanson KL, Neuhausen SL, Nevanlinna H, Nguyen-Dumont T, Niederacher D, Olah E, Olopade OI, Palli D, Parsons MT, Pedersen IS, Peissel B, Perez-Segura P, Peterlongo P, Petersen AH, Pinto P, Porteous ME, Pottinger C, Pujana MA, Radice P, Ramser J, Rantala J, Robson M, Rogers MT, Rønlund K, Rump A, Sánchez de Abajo AM, Shah PD, Sharif S, Side LE, Singer CF, Stadler Z, Steele L, Stoppa-Lyonnet D, Sutter C, Tan YY, Teixeira MR, Teulé A, Thull DL, Tischkowitz M, Toland AE, Tommasi S, Toss A, Trainer AH, Tripathi V, Valentini V, van Asperen CJ, Venturelli M, Viel A, Vijai J, Walker L, Wang-Gohrke S, Wappenschmidt B, Whaite A, Zanna I, Offit K, Thomassen M, Couch FJ, Schmutzler RK, Simard J, Easton DF, Chenevix-Trench G, Antoniou AC, Ottini L. Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores. J Natl Cancer Inst. 2022 Jan 11;114(1):109-122. doi: 10.1093/jnci/djab147. PMID: 34320204.
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Performance of Breast Cancer Polygenic Risk Scores in 760 Female CHEK2 Germline Mutation Carriers.

Journal of the National Cancer Institute

Borde J, Ernst C, Wappenschmidt B, Niederacher D, Weber-Lassalle K, Schmidt G, Hauke J, Quante AS, Weber-Lassalle N, Horváth J, Pohl-Rescigno E, Arnold N, Rump A, Gehrig A, Hentschel J, Faust U, Dutrannoy V, Meindl A, Kuzyakova M, Wang-Gohrke S, Weber BHF, Sutter C, Volk AE, Giannakopoulou O, Lee A, Engel C, Schmidt MK, Antoniou AC, Schmutzler RK, Kuchenbaecker K, Hahnen E.
PMID: 33372680
J Natl Cancer Inst. 2021 Jul 01;113(7):893-899. doi: 10.1093/jnci/djaa203.

BACKGROUND: Genome-wide association studies suggest that the combined effects of breast cancer (BC)-associated single nucleotide polymorphisms (SNPs) can improve BC risk stratification using polygenic risk scores (PRSs). The performance of PRSs in genome-wide association studies-independent clinical cohorts is poorly...

Cite
Borde J, Ernst C, Wappenschmidt B, et al. Performance of Breast Cancer Polygenic Risk Scores in 760 Female CHEK2 Germline Mutation Carriers. J Natl Cancer Inst. 2021;113(7):893-899doi: 10.1093/jnci/djaa203.
Borde, J., Ernst, C., Wappenschmidt, B., Niederacher, D., Weber-Lassalle, K., Schmidt, G., Hauke, J., Quante, A. S., Weber-Lassalle, N., Horváth, J., Pohl-Rescigno, E., Arnold, N., Rump, A., Gehrig, A., Hentschel, J., Faust, U., Dutrannoy, V., Meindl, A., Kuzyakova, M., Wang-Gohrke, S., Weber, B. H. F., Sutter, C., Volk, A. E., Giannakopoulou, O., Lee, A., Engel, C., Schmidt, M. K., Antoniou, A. C., Schmutzler, R. K., Kuchenbaecker, K., & Hahnen, E. (2021). Performance of Breast Cancer Polygenic Risk Scores in 760 Female CHEK2 Germline Mutation Carriers. Journal of the National Cancer Institute, 113(7), 893-899. https://doi.org/10.1093/jnci/djaa203
Borde, Julika, et al. "Performance of Breast Cancer Polygenic Risk Scores in 760 Female CHEK2 Germline Mutation Carriers." Journal of the National Cancer Institute vol. 113,7 (2021): 893-899. doi: https://doi.org/10.1093/jnci/djaa203
Borde J, Ernst C, Wappenschmidt B, Niederacher D, Weber-Lassalle K, Schmidt G, Hauke J, Quante AS, Weber-Lassalle N, Horváth J, Pohl-Rescigno E, Arnold N, Rump A, Gehrig A, Hentschel J, Faust U, Dutrannoy V, Meindl A, Kuzyakova M, Wang-Gohrke S, Weber BHF, Sutter C, Volk AE, Giannakopoulou O, Lee A, Engel C, Schmidt MK, Antoniou AC, Schmutzler RK, Kuchenbaecker K, Hahnen E. Performance of Breast Cancer Polygenic Risk Scores in 760 Female CHEK2 Germline Mutation Carriers. J Natl Cancer Inst. 2021 Jul 01;113(7):893-899. doi: 10.1093/jnci/djaa203. PMID: 33372680; PMCID: PMC8246885.
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Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores.

Journal of the National Cancer Institute

Barnes DR, Silvestri V, Leslie G, McGuffog L, Dennis J, Yang X, Adlard J, Agnarsson BA, Ahmed M, Aittomäki K, Andrulis IL, Arason A, Arnold N, Auber B, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Barwell J, Belotti M, Benitez J, Berthet P, Boonen SE, Borg Å, Bozsik A, Brady A, Brennan P, Brewer C, Brunet J, Bucalo A, Buys SS, Caldés T, Caligo MA, Campbell I, Cassingham H, Lotte Christensen L, Cini G, Claes KBM, Cook J, Coppa A, Cortesi L, Damante G, Darder E, Davidson R, de la Hoya M, De Leeneer K, de Putter R, Del Valle J, Diez O, Chun Ding Y, Domchek SM, Donaldson A, Eason J, Eeles R, Engel C, Gareth Evans D, Feliubadaló L, Fostira F, Frone M, Frost D, Gallagher D, Gehrig A, Giraud S, Glendon G, Godwin AK, Goldgar DE, Greene MH, Gregory H, Gross E, Hahnen E, Hamann U, Hansen TVO, Hanson H, Hentschel J, Horvath J, Izatt L, Izquierdo A, James PA, Janavicius R, Birk Jensen U, Johannsson OT, John EM, Kramer G, Kroeldrup L, Kruse TA, Lautrup C, Lazaro C, Lesueur F, Lopez-Fernández A, Mai PL, Manoukian S, Matrai Z, Matricardi L, Maxwell KN, Mebirouk N, Meindl A, Montagna M, Monteiro AN, Morrison PJ, Muranen TA, Murray A, Nathanson KL, Neuhausen SL, Nevanlinna H, Nguyen-Dumont T, Niederacher D, Olah E, Olopade OI, Palli D, Parsons MT, Sokilde Pedersen I, Peissel B, Perez-Segura P, Peterlongo P, Petersen AH, Pinto P, Porteous ME, Pottinger C, Angel Pujana M, Radice P, Ramser J, Rantala J, Robson M, Rogers MT, Rønlund K, Rump A, María Sánchez de Abajo A, Shah PD, Sharif S, Side LE, Singer CF, Stadler Z, Steele L, Stoppa-Lyonnet D, Sutter C, Yen Tan Y, Teixeira MR, Teulé A, Thull DL, Tischkowitz M, Toland AE, Tommasi S, Toss A, Trainer AH, Tripathi V, Valentini V, van Asperen CJ, Venturelli M, Viel A, Vijai J, Walker L, Wang-Gohrke S, Wappenschmidt B, Whaite A, Zanna I, Offit K, Thomassen M, Couch FJ, Schmutzler RK, Simard J, Easton DF, Chenevix-Trench G, Antoniou AC, Ottini L.
PMID: 34320204
J Natl Cancer Inst. 2021 Jul 28; doi: 10.1093/jnci/djab147. Epub 2021 Jul 28.

BACKGROUND: Recent population-based female breast cancer and prostate cancer polygenic risk scores (PRS) have been developed. We assessed the associations of these PRS with breast and prostate cancer risks for male BRCA1 and BRCA2 pathogenic variant carriers.METHODS: 483 BRCA1...

Cite
Barnes DR, Silvestri V, Leslie G, et al. Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores. J Natl Cancer Inst. 2021;doi: 10.1093/jnci/djab147.
Barnes, D. R., Silvestri, V., Leslie, G., McGuffog, L., Dennis, J., Yang, X., Adlard, J., Agnarsson, B. A., Ahmed, M., Aittomäki, K., Andrulis, I. L., Arason, A., Arnold, N., Auber, B., Azzollini, J., Balmaña, J., Barkardottir, R. B., Barrowdale, D., Barwell, J., Belotti, M., Benitez, J., Berthet, P., Boonen, S. E., Borg, �. �., Bozsik, A., Brady, A., Brennan, P., Brewer, C., Brunet, J., Bucalo, A., Buys, S. S., Caldés, T., Caligo, M. A., Campbell, I., Cassingham, H., Lotte Christensen, L., Cini, G., Claes, K. B. M., Cook, J., Coppa, A., Cortesi, L., Damante, G., Darder, E., Davidson, R., de la Hoya, M., De Leeneer, K., de Putter, R., Del Valle, J., Diez, O., Chun Ding, Y., Domchek, S. M., Donaldson, A., Eason, J., Eeles, R., Engel, C., Gareth Evans, D., Feliubadaló, L., Fostira, F., Frone, M., Frost, D., Gallagher, D., Gehrig, A., Giraud, S., Glendon, G., Godwin, A. K., Goldgar, D. E., Greene, M. H., Gregory, H., Gross, E., Hahnen, E., Hamann, U., Hansen, T. V. O., Hanson, H., Hentschel, J., Horvath, J., Izatt, L., Izquierdo, A., James, P. A., Janavicius, R., Birk Jensen, U., Johannsson, O. T., John, E. M., Kramer, G., Kroeldrup, L., Kruse, T. A., Lautrup, C., Lazaro, C., Lesueur, F., Lopez-Fernández, A., Mai, P. L., Manoukian, S., Matrai, Z., Matricardi, L., Maxwell, K. N., Mebirouk, N., Meindl, A., Montagna, M., Monteiro, A. N., Morrison, P. J., Muranen, T. A., Murray, A., Nathanson, K. L., Neuhausen, S. L., Nevanlinna, H., Nguyen-Dumont, T., Niederacher, D., Olah, E., Olopade, O. I., Palli, D., Parsons, M. T., Sokilde Pedersen, I., Peissel, B., Perez-Segura, P., Peterlongo, P., Petersen, A. H., Pinto, P., Porteous, M. E., Pottinger, C., Angel Pujana, M., Radice, P., Ramser, J., Rantala, J., Robson, M., Rogers, M. T., Rønlund, K., Rump, A., María Sánchez de Abajo, A., Shah, P. D., Sharif, S., Side, L. E., Singer, C. F., Stadler, Z., Steele, L., Stoppa-Lyonnet, D., Sutter, C., Yen Tan, Y., Teixeira, M. R., Teulé, A., Thull, D. L., Tischkowitz, M., Toland, A. E., Tommasi, S., Toss, A., Trainer, A. H., Tripathi, V., Valentini, V., van Asperen, C. J., Venturelli, M., Viel, A., Vijai, J., Walker, L., Wang-Gohrke, S., Wappenschmidt, B., Whaite, A., Zanna, I., Offit, K., Thomassen, M., Couch, F. J., Schmutzler, R. K., Simard, J., Easton, D. F., Chenevix-Trench, G., Antoniou, A. C., Ottini, L. (2021). Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores. Journal of the National Cancer Institute, . https://doi.org/10.1093/jnci/djab147
Barnes, Daniel R, et al. "Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores." Journal of the National Cancer Institute vol. (2021). doi: https://doi.org/10.1093/jnci/djab147
Barnes DR, Silvestri V, Leslie G, McGuffog L, Dennis J, Yang X, Adlard J, Agnarsson BA, Ahmed M, Aittomäki K, Andrulis IL, Arason A, Arnold N, Auber B, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Barwell J, Belotti M, Benitez J, Berthet P, Boonen SE, Borg Å, Bozsik A, Brady A, Brennan P, Brewer C, Brunet J, Bucalo A, Buys SS, Caldés T, Caligo MA, Campbell I, Cassingham H, Lotte Christensen L, Cini G, Claes KBM, Cook J, Coppa A, Cortesi L, Damante G, Darder E, Davidson R, de la Hoya M, De Leeneer K, de Putter R, Del Valle J, Diez O, Chun Ding Y, Domchek SM, Donaldson A, Eason J, Eeles R, Engel C, Gareth Evans D, Feliubadaló L, Fostira F, Frone M, Frost D, Gallagher D, Gehrig A, Giraud S, Glendon G, Godwin AK, Goldgar DE, Greene MH, Gregory H, Gross E, Hahnen E, Hamann U, Hansen TVO, Hanson H, Hentschel J, Horvath J, Izatt L, Izquierdo A, James PA, Janavicius R, Birk Jensen U, Johannsson OT, John EM, Kramer G, Kroeldrup L, Kruse TA, Lautrup C, Lazaro C, Lesueur F, Lopez-Fernández A, Mai PL, Manoukian S, Matrai Z, Matricardi L, Maxwell KN, Mebirouk N, Meindl A, Montagna M, Monteiro AN, Morrison PJ, Muranen TA, Murray A, Nathanson KL, Neuhausen SL, Nevanlinna H, Nguyen-Dumont T, Niederacher D, Olah E, Olopade OI, Palli D, Parsons MT, Sokilde Pedersen I, Peissel B, Perez-Segura P, Peterlongo P, Petersen AH, Pinto P, Porteous ME, Pottinger C, Angel Pujana M, Radice P, Ramser J, Rantala J, Robson M, Rogers MT, Rønlund K, Rump A, María Sánchez de Abajo A, Shah PD, Sharif S, Side LE, Singer CF, Stadler Z, Steele L, Stoppa-Lyonnet D, Sutter C, Yen Tan Y, Teixeira MR, Teulé A, Thull DL, Tischkowitz M, Toland AE, Tommasi S, Toss A, Trainer AH, Tripathi V, Valentini V, van Asperen CJ, Venturelli M, Viel A, Vijai J, Walker L, Wang-Gohrke S, Wappenschmidt B, Whaite A, Zanna I, Offit K, Thomassen M, Couch FJ, Schmutzler RK, Simard J, Easton DF, Chenevix-Trench G, Antoniou AC, Ottini L. Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores. J Natl Cancer Inst. 2021 Jul 28; doi: 10.1093/jnci/djab147. Epub 2021 Jul 28. PMID: 34320204.
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Multiplex PCR (MPCR) Screening Can Detect Small Intragenic p53 Deletion and Insertion Mutations.

Methods in molecular medicine

Runnebaum IB, Wang-Gohrke S.
PMID: 21340788
Methods Mol Med. 2001;39:329-35. doi: 10.1385/1-59259-071-3:329.

Mutations of the p53 tumor suppressor gene are the most common alterations associated with malignancy identified so far. Inactivation of the p53 gene contributes to loss of a cell-cycle check point at the G1-S boundary and to genetic instability...

Cite
Runnebaum IB, Wang-Gohrke S. Multiplex PCR (MPCR) Screening Can Detect Small Intragenic p53 Deletion and Insertion Mutations. Methods Mol Med. 2001;39:329-35doi: 10.1385/1-59259-071-3:329.
Runnebaum, I. B., & Wang-Gohrke, S. (2001). Multiplex PCR (MPCR) Screening Can Detect Small Intragenic p53 Deletion and Insertion Mutations. Methods in molecular medicine, 39329-35. https://doi.org/10.1385/1-59259-071-3:329
Runnebaum, I B, and Wang-Gohrke, S. "Multiplex PCR (MPCR) Screening Can Detect Small Intragenic p53 Deletion and Insertion Mutations." Methods in molecular medicine vol. 39 (2001): 329-35. doi: https://doi.org/10.1385/1-59259-071-3:329
Runnebaum IB, Wang-Gohrke S. Multiplex PCR (MPCR) Screening Can Detect Small Intragenic p53 Deletion and Insertion Mutations. Methods Mol Med. 2001;39:329-35. doi: 10.1385/1-59259-071-3:329. PMID: 21340788.
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Performance of Breast Cancer Polygenic Risk Scores in 760 Female CHEK2 Germline Mutation Carriers.

Journal of the National Cancer Institute

Borde J, Ernst C, Wappenschmidt B, Niederacher D, Weber-Lassalle K, Schmidt G, Hauke J, Quante AS, Weber-Lassalle N, Horváth J, Pohl-Rescigno E, Arnold N, Rump A, Gehrig A, Hentschel J, Faust U, Dutrannoy V, Meindl A, Kuzyakova M, Wang-Gohrke S, Weber BHF, Sutter C, Volk AE, Giannakopoulou O, Lee A, Engel C, Schmidt MK, Antoniou AC, Schmutzler RK, Kuchenbaecker K, Hahnen E.
PMID: 33372680
J Natl Cancer Inst. 2021 Jul 01;113(7):893-899. doi: 10.1093/jnci/djaa203.

BACKGROUND: Genome-wide association studies suggest that the combined effects of breast cancer (BC)-associated single nucleotide polymorphisms (SNPs) can improve BC risk stratification using polygenic risk scores (PRSs). The performance of PRSs in genome-wide association studies-independent clinical cohorts is poorly...

Cite
Borde J, Ernst C, Wappenschmidt B, et al. Performance of Breast Cancer Polygenic Risk Scores in 760 Female CHEK2 Germline Mutation Carriers. J Natl Cancer Inst. 2021;113(7):893-899doi: 10.1093/jnci/djaa203.
Borde, J., Ernst, C., Wappenschmidt, B., Niederacher, D., Weber-Lassalle, K., Schmidt, G., Hauke, J., Quante, A. S., Weber-Lassalle, N., Horváth, J., Pohl-Rescigno, E., Arnold, N., Rump, A., Gehrig, A., Hentschel, J., Faust, U., Dutrannoy, V., Meindl, A., Kuzyakova, M., Wang-Gohrke, S., Weber, B. H. F., Sutter, C., Volk, A. E., Giannakopoulou, O., Lee, A., Engel, C., Schmidt, M. K., Antoniou, A. C., Schmutzler, R. K., Kuchenbaecker, K., & Hahnen, E. (2021). Performance of Breast Cancer Polygenic Risk Scores in 760 Female CHEK2 Germline Mutation Carriers. Journal of the National Cancer Institute, 113(7), 893-899. https://doi.org/10.1093/jnci/djaa203
Borde, Julika, et al. "Performance of Breast Cancer Polygenic Risk Scores in 760 Female CHEK2 Germline Mutation Carriers." Journal of the National Cancer Institute vol. 113,7 (2021): 893-899. doi: https://doi.org/10.1093/jnci/djaa203
Borde J, Ernst C, Wappenschmidt B, Niederacher D, Weber-Lassalle K, Schmidt G, Hauke J, Quante AS, Weber-Lassalle N, Horváth J, Pohl-Rescigno E, Arnold N, Rump A, Gehrig A, Hentschel J, Faust U, Dutrannoy V, Meindl A, Kuzyakova M, Wang-Gohrke S, Weber BHF, Sutter C, Volk AE, Giannakopoulou O, Lee A, Engel C, Schmidt MK, Antoniou AC, Schmutzler RK, Kuchenbaecker K, Hahnen E. Performance of Breast Cancer Polygenic Risk Scores in 760 Female CHEK2 Germline Mutation Carriers. J Natl Cancer Inst. 2021 Jul 01;113(7):893-899. doi: 10.1093/jnci/djaa203. PMID: 33372680; PMCID: PMC8246885.
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