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Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.

Genetics in medicine : official journal of the American College of Medical Genetics

Li H, Engel C, de la Hoya M, Peterlongo P, Yannoukakos D, Livraghi L, Radice P, Thomassen M, Hansen TVO, Gerdes AM, Nielsen HR, Caputo SM, Zambelli A, Borg A, Solano A, Thomas A, Parsons MT, Antoniou AC, Leslie G, Yang X, Chenevix-Trench G, Caldes T, Kwong A, Pedersen IS, Lautrup CK, John EM, Terry MB, Hopper JL, Southey MC, Andrulis IL, Tischkowitz M, Janavicius R, Boonen SE, Kroeldrup L, Varesco L, Hamann U, Vega A, Palmero EI, Garber J, Montagna M, Van Asperen CJ, Foretova L, Greene MH, Selkirk T, Moller P, Toland AE, Domchek SM, James PA, Thorne H, Eccles DM, Nielsen SM, Manoukian S, Pasini B, Caligo MA, Lazaro C, Kirk J, Wappenschmidt B, Spurdle AB, Couch FJ, Schmutzler R, Goldgar DE.
PMID: 34906479
Genet Med. 2022 Jan;24(1):119-129. doi: 10.1016/j.gim.2021.08.016. Epub 2021 Nov 30.

PURPOSE: Germline genetic testing for BRCA1 and BRCA2 variants has been a part of clinical practice for >2 decades. However, no studies have compared the cancer risks associated with missense pathogenic variants (PVs) with those associated with protein truncating...

Cite
Li H, Engel C, de la Hoya M, et al. Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants. Genet Med. 2021;24(1):119-129doi: 10.1016/j.gim.2021.08.016.
Li, H., Engel, C., de la Hoya, M., Peterlongo, P., Yannoukakos, D., Livraghi, L., Radice, P., Thomassen, M., Hansen, T. V. O., Gerdes, A. M., Nielsen, H. R., Caputo, S. M., Zambelli, A., Borg, A., Solano, A., Thomas, A., Parsons, M. T., Antoniou, A. C., Leslie, G., Yang, X., Chenevix-Trench, G., Caldes, T., Kwong, A., Pedersen, I. S., Lautrup, C. K., John, E. M., Terry, M. B., Hopper, J. L., Southey, M. C., Andrulis, I. L., Tischkowitz, M., Janavicius, R., Boonen, S. E., Kroeldrup, L., Varesco, L., Hamann, U., Vega, A., Palmero, E. I., Garber, J., Montagna, M., Van Asperen, C. J., Foretova, L., Greene, M. H., Selkirk, T., Moller, P., Toland, A. E., Domchek, S. M., James, P. A., Thorne, H., Eccles, D. M., Nielsen, S. M., Manoukian, S., Pasini, B., Caligo, M. A., Lazaro, C., Kirk, J., Wappenschmidt, B., Spurdle, A. B., Couch, F. J., Schmutzler, R., Goldgar, D. E. (2022). Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants. Genetics in medicine : official journal of the American College of Medical Genetics, 24(1), 119-129. https://doi.org/10.1016/j.gim.2021.08.016
Li, Hongyan, et al. "Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants." Genetics in medicine : official journal of the American College of Medical Genetics vol. 24,1 (2022): 119-129. doi: https://doi.org/10.1016/j.gim.2021.08.016
Li H, Engel C, de la Hoya M, Peterlongo P, Yannoukakos D, Livraghi L, Radice P, Thomassen M, Hansen TVO, Gerdes AM, Nielsen HR, Caputo SM, Zambelli A, Borg A, Solano A, Thomas A, Parsons MT, Antoniou AC, Leslie G, Yang X, Chenevix-Trench G, Caldes T, Kwong A, Pedersen IS, Lautrup CK, John EM, Terry MB, Hopper JL, Southey MC, Andrulis IL, Tischkowitz M, Janavicius R, Boonen SE, Kroeldrup L, Varesco L, Hamann U, Vega A, Palmero EI, Garber J, Montagna M, Van Asperen CJ, Foretova L, Greene MH, Selkirk T, Moller P, Toland AE, Domchek SM, James PA, Thorne H, Eccles DM, Nielsen SM, Manoukian S, Pasini B, Caligo MA, Lazaro C, Kirk J, Wappenschmidt B, Spurdle AB, Couch FJ, Schmutzler R, Goldgar DE. Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants. Genet Med. 2022 Jan;24(1):119-129. doi: 10.1016/j.gim.2021.08.016. Epub 2021 Nov 30. PMID: 34906479.
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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...

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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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Study of the effectiveness of first-line treatment in renal cell carcinoma.

Molecular and clinical oncology

Sastre-Heres AJ, Calero MA, Ruiz-Sánchez D, García MT, Hernandez MA, Martínez FM, Peña-Díaz J.
PMID: 25279217
Mol Clin Oncol. 2014 Nov;2(6):1167-1171. doi: 10.3892/mco.2014.353. Epub 2014 Jul 18.

The emergence of novel drugs corresponds with the determination of the effectiveness of the current treatments used in clinical practice. A retrospective observational study was conducted to evaluate the effectiveness of first-line treatments and to test the influence of...

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Sastre-Heres AJ, Calero MA, Ruiz-Sánchez D, et al. Study of the effectiveness of first-line treatment in renal cell carcinoma. Mol Clin Oncol. 2014;2(6):1167-1171doi: 10.3892/mco.2014.353.
Sastre-Heres, A. J., Calero, M. A., Ruiz-Sánchez, D., García, M. T., Hernandez, M. A., Martínez, F. M., & Peña-Díaz, J. (2014). Study of the effectiveness of first-line treatment in renal cell carcinoma. Molecular and clinical oncology, 2(6), 1167-1171. https://doi.org/10.3892/mco.2014.353
Sastre-Heres, Alejandro J, et al. "Study of the effectiveness of first-line treatment in renal cell carcinoma." Molecular and clinical oncology vol. 2,6 (2014): 1167-1171. doi: https://doi.org/10.3892/mco.2014.353
Sastre-Heres AJ, Calero MA, Ruiz-Sánchez D, García MT, Hernandez MA, Martínez FM, Peña-Díaz J. Study of the effectiveness of first-line treatment in renal cell carcinoma. Mol Clin Oncol. 2014 Nov;2(6):1167-1171. doi: 10.3892/mco.2014.353. Epub 2014 Jul 18. PMID: 25279217; PMCID: PMC4179786.
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Generation and mid-IR measurement of a gas-phase to predict security parameters of aviation jet fuel.

Talanta

Gómez-Carracedo MP, Andrade JM, Calviño MA, Prada D, Fernández E, Muniategui S.
PMID: 18969130
Talanta. 2003 Jul 27;60(5):1051-62. doi: 10.1016/S0039-9140(03)00174-7.

The worldwide use of kerosene as aviation jet fuel makes its safety considerations of most importance not only for aircraft security but for the workers' health (chronic and/or acute exposure). As most kerosene risks come from its vapours, this...

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Gómez-Carracedo MP, Andrade JM, Calviño MA, et al. Generation and mid-IR measurement of a gas-phase to predict security parameters of aviation jet fuel. Talanta. 2003;60(5):1051-62doi: 10.1016/S0039-9140(03)00174-7.
Gómez-Carracedo, M. P., Andrade, J. M., Calviño, M. A., Prada, D., Fernández, E., & Muniategui, S. (2003). Generation and mid-IR measurement of a gas-phase to predict security parameters of aviation jet fuel. Talanta, 60(5), 1051-62. https://doi.org/10.1016/S0039-9140(03)00174-7
Gómez-Carracedo, M P, et al. "Generation and mid-IR measurement of a gas-phase to predict security parameters of aviation jet fuel." Talanta vol. 60,5 (2003): 1051-62. doi: https://doi.org/10.1016/S0039-9140(03)00174-7
Gómez-Carracedo MP, Andrade JM, Calviño MA, Prada D, Fernández E, Muniategui S. Generation and mid-IR measurement of a gas-phase to predict security parameters of aviation jet fuel. Talanta. 2003 Jul 27;60(5):1051-62. doi: 10.1016/S0039-9140(03)00174-7. PMID: 18969130.
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Solution and solid-state variation of cupric phenanthroline complexes.

Inorganic chemistry

Aligo JA, Smith L, Eglin JL, Pence LE.
PMID: 15907128
Inorg Chem. 2005 May 30;44(11):4001-7. doi: 10.1021/ic049069o.

The 1:1 cupric-phenanthroline complexes, [Cu(5,6-Me2-phen)(MeCN)2(BF4)](BF4) (1), [Cu(o-phen)(MeCN)2(H2O)](BF4)2 (2), and [Cu(5-Cl-phen)(MeCN)2(BF4)](BF4) (3), have been prepared and characterized by X-ray crystallography. The structures of 1 and 3 are characterized by an equatorial plane about the copper center consisting of a phenanthroline...

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Aligo JA, Smith L, Eglin JL, et al. Solution and solid-state variation of cupric phenanthroline complexes. Inorg Chem. 2005;44(11):4001-7doi: 10.1021/ic049069o.
Aligo, J. A., Smith, L., Eglin, J. L., & Pence, L. E. (2005). Solution and solid-state variation of cupric phenanthroline complexes. Inorganic chemistry, 44(11), 4001-7. https://doi.org/10.1021/ic049069o
Aligo, Jason A, et al. "Solution and solid-state variation of cupric phenanthroline complexes." Inorganic chemistry vol. 44,11 (2005): 4001-7. doi: https://doi.org/10.1021/ic049069o
Aligo JA, Smith L, Eglin JL, Pence LE. Solution and solid-state variation of cupric phenanthroline complexes. Inorg Chem. 2005 May 30;44(11):4001-7. doi: 10.1021/ic049069o. PMID: 15907128.
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Effectiveness of the bevacizumab-irinotecan regimen in the treatment of recurrent glioblastoma multiforme: Comparison with other second-line treatments without this regimen.

Oncology letters

Ruiz-Sánchez D, Calero MA, Sastre-Heres AJ, García MT, Hernandez MA, Martinez FM, Peña-Díaz J.
PMID: 23162662
Oncol Lett. 2012 Nov;4(5):1114-1118. doi: 10.3892/ol.2012.861. Epub 2012 Aug 14.

A retrospective cohort study was conducted to analyse the effectiveness of bevacizumab and irinotecan (BVZ/CPT-11) as a second-line treatment in patients with primary glioblastoma multiforme (GBM) in comparison with a control group that were not administered BVZ/CPT-11 at the...

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Ruiz-Sánchez D, Calero MA, Sastre-Heres AJ, et al. Effectiveness of the bevacizumab-irinotecan regimen in the treatment of recurrent glioblastoma multiforme: Comparison with other second-line treatments without this regimen. Oncol Lett. 2012;4(5):1114-1118doi: 10.3892/ol.2012.861.
Ruiz-Sánchez, D., Calero, M. A., Sastre-Heres, A. J., García, M. T., Hernandez, M. A., Martinez, F. M., & Peña-Díaz, J. (2012). Effectiveness of the bevacizumab-irinotecan regimen in the treatment of recurrent glioblastoma multiforme: Comparison with other second-line treatments without this regimen. Oncology letters, 4(5), 1114-1118. https://doi.org/10.3892/ol.2012.861
Ruiz-Sánchez, Daniel, et al. "Effectiveness of the bevacizumab-irinotecan regimen in the treatment of recurrent glioblastoma multiforme: Comparison with other second-line treatments without this regimen." Oncology letters vol. 4,5 (2012): 1114-1118. doi: https://doi.org/10.3892/ol.2012.861
Ruiz-Sánchez D, Calero MA, Sastre-Heres AJ, García MT, Hernandez MA, Martinez FM, Peña-Díaz J. Effectiveness of the bevacizumab-irinotecan regimen in the treatment of recurrent glioblastoma multiforme: Comparison with other second-line treatments without this regimen. Oncol Lett. 2012 Nov;4(5):1114-1118. doi: 10.3892/ol.2012.861. Epub 2012 Aug 14. PMID: 23162662; PMCID: PMC3499589.
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NR5A1 Gene Variants: Variable Phenotypes, New Variants, Different Outcomes.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Faienza MF, Chiarito M, Baldinotti F, Canale D, Savino C, Paradies G, Corica D, Romeo C, Tyutyusheva N, Caligo MA, Wasniewska MG, Bertelloni S.
PMID: 32369823
Sex Dev. 2019;13(5):258-263. doi: 10.1159/000507411. Epub 2020 May 06.

NR5A1 (nuclear receptor subfamily 5 group A member 1) is a transcriptional regulator of adrenal and gonadal development and function. Heterozygous and homozygous NR5A1 mutations have been described in people with 46,XY disorders of sex development (DSD). The clinical,...

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Faienza MF, Chiarito M, Baldinotti F, et al. NR5A1 Gene Variants: Variable Phenotypes, New Variants, Different Outcomes. Sex Dev. 2020;13(5):258-263doi: 10.1159/000507411.
Faienza, M. F., Chiarito, M., Baldinotti, F., Canale, D., Savino, C., Paradies, G., Corica, D., Romeo, C., Tyutyusheva, N., Caligo, M. A., Wasniewska, M. G., & Bertelloni, S. (2019). NR5A1 Gene Variants: Variable Phenotypes, New Variants, Different Outcomes. Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation, 13(5), 258-263. https://doi.org/10.1159/000507411
Faienza, Maria F, et al. "NR5A1 Gene Variants: Variable Phenotypes, New Variants, Different Outcomes." Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation vol. 13,5 (2019): 258-263. doi: https://doi.org/10.1159/000507411
Faienza MF, Chiarito M, Baldinotti F, Canale D, Savino C, Paradies G, Corica D, Romeo C, Tyutyusheva N, Caligo MA, Wasniewska MG, Bertelloni S. NR5A1 Gene Variants: Variable Phenotypes, New Variants, Different Outcomes. Sex Dev. 2019;13(5):258-263. doi: 10.1159/000507411. Epub 2020 May 06. PMID: 32369823.
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Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.

Genetics in medicine : official journal of the American College of Medical Genetics

Li H, Engel C, de la Hoya M, Peterlongo P, Yannoukakos D, Livraghi L, Radice P, Thomassen M, Hansen TVO, Gerdes AM, Nielsen HR, Caputo SM, Zambelli A, Borg A, Solano A, Thomas A, Parsons MT, Antoniou AC, Leslie G, Yang X, Chenevix-Trench G, Caldes T, Kwong A, Pedersen IS, Lautrup CK, John EM, Terry MB, Hopper JL, Southey MC, Andrulis IL, Tischkowitz M, Janavicius R, Boonen SE, Kroeldrup L, Varesco L, Hamann U, Vega A, Palmero EI, Garber J, Montagna M, Van Asperen CJ, Foretova L, Greene MH, Selkirk T, Moller P, Toland AE, Domchek SM, James PA, Thorne H, Eccles DM, Nielsen SM, Manoukian S, Pasini B, Caligo MA, Lazaro C, Kirk J, Wappenschmidt B, Spurdle AB, Couch FJ, Schmutzler R, Goldgar DE.
PMID: 34906479
Genet Med. 2021 Nov 17; doi: 10.1016/j.gim.2021.08.016. Epub 2021 Nov 17.

PURPOSE: Germline genetic testing for BRCA1 and BRCA2 variants has been a part of clinical practice for >2 decades. However, no studies have compared the cancer risks associated with missense pathogenic variants (PVs) with those associated with protein truncating...

Cite
Li H, Engel C, de la Hoya M, et al. Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants. Genet Med. 2021;doi: 10.1016/j.gim.2021.08.016.
Li, H., Engel, C., de la Hoya, M., Peterlongo, P., Yannoukakos, D., Livraghi, L., Radice, P., Thomassen, M., Hansen, T. V. O., Gerdes, A. M., Nielsen, H. R., Caputo, S. M., Zambelli, A., Borg, A., Solano, A., Thomas, A., Parsons, M. T., Antoniou, A. C., Leslie, G., Yang, X., Chenevix-Trench, G., Caldes, T., Kwong, A., Pedersen, I. S., Lautrup, C. K., John, E. M., Terry, M. B., Hopper, J. L., Southey, M. C., Andrulis, I. L., Tischkowitz, M., Janavicius, R., Boonen, S. E., Kroeldrup, L., Varesco, L., Hamann, U., Vega, A., Palmero, E. I., Garber, J., Montagna, M., Van Asperen, C. J., Foretova, L., Greene, M. H., Selkirk, T., Moller, P., Toland, A. E., Domchek, S. M., James, P. A., Thorne, H., Eccles, D. M., Nielsen, S. M., Manoukian, S., Pasini, B., Caligo, M. A., Lazaro, C., Kirk, J., Wappenschmidt, B., Spurdle, A. B., Couch, F. J., Schmutzler, R., Goldgar, D. E. (2021). Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants. Genetics in medicine : official journal of the American College of Medical Genetics, . https://doi.org/10.1016/j.gim.2021.08.016
Li, Hongyan, et al. "Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants." Genetics in medicine : official journal of the American College of Medical Genetics vol. (2021). doi: https://doi.org/10.1016/j.gim.2021.08.016
Li H, Engel C, de la Hoya M, Peterlongo P, Yannoukakos D, Livraghi L, Radice P, Thomassen M, Hansen TVO, Gerdes AM, Nielsen HR, Caputo SM, Zambelli A, Borg A, Solano A, Thomas A, Parsons MT, Antoniou AC, Leslie G, Yang X, Chenevix-Trench G, Caldes T, Kwong A, Pedersen IS, Lautrup CK, John EM, Terry MB, Hopper JL, Southey MC, Andrulis IL, Tischkowitz M, Janavicius R, Boonen SE, Kroeldrup L, Varesco L, Hamann U, Vega A, Palmero EI, Garber J, Montagna M, Van Asperen CJ, Foretova L, Greene MH, Selkirk T, Moller P, Toland AE, Domchek SM, James PA, Thorne H, Eccles DM, Nielsen SM, Manoukian S, Pasini B, Caligo MA, Lazaro C, Kirk J, Wappenschmidt B, Spurdle AB, Couch FJ, Schmutzler R, Goldgar DE. Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants. Genet Med. 2021 Nov 17; doi: 10.1016/j.gim.2021.08.016. Epub 2021 Nov 17. PMID: 34906479.
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Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of .

Molecular syndromology

Bertini V, Valetto A, Baldinotti F, Azzarà A, Cambi F, Toschi B, Giacomina A, Gatti GL, Gana S, Caligo MA, Bertelloni S.
PMID: 31191203
Mol Syndromol. 2019 May;10(3):147-153. doi: 10.1159/000497092. Epub 2019 Mar 20.

Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is due to heterozygous

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Bertini V, Valetto A, Baldinotti F, et al. Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of . Mol Syndromol. 2019;10(3):147-153doi: 10.1159/000497092.
Bertini, V., Valetto, A., Baldinotti, F., Azzarà, A., Cambi, F., Toschi, B., Giacomina, A., Gatti, G. L., Gana, S., Caligo, M. A., & Bertelloni, S. (2019). Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of . Molecular syndromology, 10(3), 147-153. https://doi.org/10.1159/000497092
Bertini, Veronica, et al. "Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of ." Molecular syndromology vol. 10,3 (2019): 147-153. doi: https://doi.org/10.1159/000497092
Bertini V, Valetto A, Baldinotti F, Azzarà A, Cambi F, Toschi B, Giacomina A, Gatti GL, Gana S, Caligo MA, Bertelloni S. Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of . Mol Syndromol. 2019 May;10(3):147-153. doi: 10.1159/000497092. Epub 2019 Mar 20. PMID: 31191203; PMCID: PMC6528085.
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Correction to: Whole exome sequencing in familial isolated primary hyperparathyroidism.

Journal of endocrinological investigation

Cetani F, Pardi E, Aretini P, Saponaro F, Borsari S, Mazoni L, Apicella M, Civita P, La Ferla M, Caligo MA, Lessi F, Mazzanti CM, Torregrossa L, Oppo A, Marcocci C.
PMID: 31559585
J Endocrinol Invest. 2020 Mar;43(3):399. doi: 10.1007/s40618-019-01118-2.

Unfortunately, the 13th author name has been published incorrectly in the original publication.

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Cetani F, Pardi E, Aretini P, et al. Correction to: Whole exome sequencing in familial isolated primary hyperparathyroidism. J Endocrinol Invest. 2020;43(3):399doi: 10.1007/s40618-019-01118-2.
Cetani, F., Pardi, E., Aretini, P., Saponaro, F., Borsari, S., Mazoni, L., Apicella, M., Civita, P., La Ferla, M., Caligo, M. A., Lessi, F., Mazzanti, C. M., Torregrossa, L., Oppo, A., & Marcocci, C. (2020). Correction to: Whole exome sequencing in familial isolated primary hyperparathyroidism. Journal of endocrinological investigation, 43(3), 399. https://doi.org/10.1007/s40618-019-01118-2
Cetani, F, et al. "Correction to: Whole exome sequencing in familial isolated primary hyperparathyroidism." Journal of endocrinological investigation vol. 43,3 (2020): 399. doi: https://doi.org/10.1007/s40618-019-01118-2
Cetani F, Pardi E, Aretini P, Saponaro F, Borsari S, Mazoni L, Apicella M, Civita P, La Ferla M, Caligo MA, Lessi F, Mazzanti CM, Torregrossa L, Oppo A, Marcocci C. Correction to: Whole exome sequencing in familial isolated primary hyperparathyroidism. J Endocrinol Invest. 2020 Mar;43(3):399. doi: 10.1007/s40618-019-01118-2. PMID: 31559585.
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Feasibility and Acceptability of a Motivational Intervention Combined with Text Messaging for Alcohol and Sex Risk Reduction with Emergency Department Patients: A Pilot Trial.

Addiction research & theory

Mastroleo NR, Celio MA, Barnett NP, Colby SM, Kahler CW, Operario D, Suffoletto BP, Monti PM.
PMID: 31073283
Addict Res Theory. 2019;27(2):85-94. doi: 10.1080/16066359.2018.1444159. Epub 2018 Feb 26.

BACKGROUND: Interventions aimed at reducing co-occurring heavy drinking and risky sexual behavior among Emergency Department (ED) patients require feasibility and acceptability to optimally engage individuals.OBJECTIVES: This pilot study explored the feasibility and acceptability of an interactive text-messaging (TM) supplement...

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Mastroleo NR, Celio MA, Barnett NP, et al. Feasibility and Acceptability of a Motivational Intervention Combined with Text Messaging for Alcohol and Sex Risk Reduction with Emergency Department Patients: A Pilot Trial. Addict Res Theory. 2018;27(2):85-94doi: 10.1080/16066359.2018.1444159.
Mastroleo, N. R., Celio, M. A., Barnett, N. P., Colby, S. M., Kahler, C. W., Operario, D., Suffoletto, B. P., & Monti, P. M. (2019). Feasibility and Acceptability of a Motivational Intervention Combined with Text Messaging for Alcohol and Sex Risk Reduction with Emergency Department Patients: A Pilot Trial. Addiction research & theory, 27(2), 85-94. https://doi.org/10.1080/16066359.2018.1444159
Mastroleo, Nadine R, et al. "Feasibility and Acceptability of a Motivational Intervention Combined with Text Messaging for Alcohol and Sex Risk Reduction with Emergency Department Patients: A Pilot Trial." Addiction research & theory vol. 27,2 (2019): 85-94. doi: https://doi.org/10.1080/16066359.2018.1444159
Mastroleo NR, Celio MA, Barnett NP, Colby SM, Kahler CW, Operario D, Suffoletto BP, Monti PM. Feasibility and Acceptability of a Motivational Intervention Combined with Text Messaging for Alcohol and Sex Risk Reduction with Emergency Department Patients: A Pilot Trial. Addict Res Theory. 2019;27(2):85-94. doi: 10.1080/16066359.2018.1444159. Epub 2018 Feb 26. PMID: 31073283; PMCID: PMC6502468.
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The .

NPJ breast cancer

Figlioli G, Bogliolo M, Catucci I, Caleca L, Lasheras SV, Pujol R, Kiiski JI, Muranen TA, Barnes DR, Dennis J, Michailidou K, Bolla MK, Leslie G, Aalfs CM, Adank MA, Adlard J, Agata S, Cadoo K, Agnarsson BA, Ahearn T, Aittomäki K, Ambrosone CB, Andrews L, Anton-Culver H, Antonenkova NN, Arndt V, Arnold N, Aronson KJ, Arun BK, Asseryanis E, Auber B, Auvinen P, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Barwell J, Beane Freeman LE, Beauparlant CJ, Beckmann MW, Behrens S, Benitez J, Berger R, Bermisheva M, Blanco AM, Blomqvist C, Bogdanova NV, Bojesen A, Bojesen SE, Bonanni B, Borg A, Brady AF, Brauch H, Brenner H, Brüning T, Burwinkel B, Buys SS, Caldés T, Caliebe A, Caligo MA, Campa D, Campbell IG, Canzian F, Castelao JE, Chang-Claude J, Chanock SJ, Claes KBM, Clarke CL, Collavoli A, Conner TA, Cox DG, Cybulski C, Czene K, Daly MB, de la Hoya M, Devilee P, Diez O, Ding YC, Dite GS, Ditsch N, Domchek SM, Dorfling CM, Dos-Santos-Silva I, Durda K, Dwek M, Eccles DM, Ekici AB, Eliassen AH, Ellberg C, Eriksson M, Evans DG, Fasching PA, Figueroa J, Flyger H, Foulkes WD, Friebel TM, Friedman E, Gabrielson M, Gaddam P, Gago-Dominguez M, Gao C, Gapstur SM, Garber J, García-Closas M, García-Sáenz JA, Gaudet MM, Gayther SA, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, Guénel P, Gutierrez-Barrera AM, Haeberle L, Haiman CA, Håkansson N, Hall P, Hamann U, Harrington PA, Hein A, Heyworth J, Hillemanns P, Hollestelle A, Hopper JL, Hosgood HD, Howell A, Hu C, Hulick PJ, Hunter DJ, Imyanitov EN, Isaacs C, Jakimovska M, Jakubowska A, James P, Janavicius R, Janni W, John EM, Jones ME, Jung A, Kaaks R, Karlan BY, Khusnutdinova E, Kitahara CM, Konstantopoulou I, Koutros S, Kraft P, Lambrechts D, Lazaro C, Le Marchand L, Lester J, Lesueur F, Lilyquist J, Loud JT, Lu KH, Luben RN, Lubinski J, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martens JWM, Maurer T, Mavroudis D, Mebirouk N, Meindl A, Menon U, Miller A, Montagna M, Nathanson KL, Neuhausen SL, Newman WG, Nguyen-Dumont T, Nielsen FC, Nielsen S, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Olshan AF, Olson JE, Olsson H, Osorio A, Ottini L, Peissel B, Peixoto A, Peto J, Plaseska-Karanfilska D, Pocza T, Presneau N, Pujana MA, Punie K, Rack B, Rantala J, Rashid MU, Rau-Murthy R, Rennert G, Lejbkowicz F, Rhenius V, Romero A, Rookus MA, Ross EA, Rossing M, Rudaitis V, Ruebner M, Saloustros E, Sanden K, Santamariña M, Scheuner MT, Schmutzler RK, Schneider M, Scott C, Senter L, Shah M, Sharma P, Shu XO, Simard J, Singer CF, Sohn C, Soucy P, Southey MC, Spinelli JJ, Steele L, Stoppa-Lyonnet D, Tapper WJ, Teixeira MR, Terry MB, Thomassen M, Thompson J, Thull DL, Tischkowitz M, Tollenaar RAEM, Torres D, Troester MA, Truong T, Tung N, Untch M, Vachon CM, van Rensburg EJ, van Veen EM, Vega A, Viel A, Wappenschmidt B, Weitzel JN, Wendt C, Wieme G, Wolk A, Yang XR, Zheng W, Ziogas A, Zorn KK, Dunning AM, Lush M, Wang Q, McGuffog L, Parsons MT, Pharoah PDP, Fostira F, Toland AE, Andrulis IL, Ramus SJ, Swerdlow AJ, Greene MH, Chung WK, Milne RL, Chenevix-Trench G, Dörk T, Schmidt MK, Easton DF, Radice P, Hahnen E, Antoniou AC, Couch FJ, Nevanlinna H, Surrallés J, Peterlongo P.
PMID: 31700994
NPJ Breast Cancer. 2019 Nov 01;5:38. doi: 10.1038/s41523-019-0127-5. eCollection 2019.

Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes

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Figlioli G, Bogliolo M, Catucci I, et al. The . NPJ Breast Cancer. 2019;5:38doi: 10.1038/s41523-019-0127-5.
Figlioli, G., Bogliolo, M., Catucci, I., Caleca, L., Lasheras, S. V., Pujol, R., Kiiski, J. I., Muranen, T. A., Barnes, D. R., Dennis, J., Michailidou, K., Bolla, M. K., Leslie, G., Aalfs, C. M., Adank, M. A., Adlard, J., Agata, S., Cadoo, K., Agnarsson, B. A., Ahearn, T., Aittomäki, K., Ambrosone, C. B., Andrews, L., Anton-Culver, H., Antonenkova, N. N., Arndt, V., Arnold, N., Aronson, K. J., Arun, B. K., Asseryanis, E., Auber, B., Auvinen, P., Azzollini, J., Balmaña, J., Barkardottir, R. B., Barrowdale, D., Barwell, J., Beane Freeman, L. E., Beauparlant, C. J., Beckmann, M. W., Behrens, S., Benitez, J., Berger, R., Bermisheva, M., Blanco, A. M., Blomqvist, C., Bogdanova, N. V., Bojesen, A., Bojesen, S. E., Bonanni, B., Borg, A., Brady, A. F., Brauch, H., Brenner, H., Brüning, T., Burwinkel, B., Buys, S. S., Caldés, T., Caliebe, A., Caligo, M. A., Campa, D., Campbell, I. G., Canzian, F., Castelao, J. E., Chang-Claude, J., Chanock, S. J., Claes, K. B. M., Clarke, C. L., Collavoli, A., Conner, T. A., Cox, D. G., Cybulski, C., Czene, K., Daly, M. B., de la Hoya, M., Devilee, P., Diez, O., Ding, Y. C., Dite, G. S., Ditsch, N., Domchek, S. M., Dorfling, C. M., Dos-Santos-Silva, I., Durda, K., Dwek, M., Eccles, D. M., Ekici, A. B., Eliassen, A. H., Ellberg, C., Eriksson, M., Evans, D. G., Fasching, P. A., Figueroa, J., Flyger, H., Foulkes, W. D., Friebel, T. M., Friedman, E., Gabrielson, M., Gaddam, P., Gago-Dominguez, M., Gao, C., Gapstur, S. M., Garber, J., García-Closas, M., García-Sáenz, J. A., Gaudet, M. M., Gayther, S. A., Giles, G. G., Glendon, G., Godwin, A. K., Goldberg, M. S., Goldgar, D. E., Guénel, P., Gutierrez-Barrera, A. M., Haeberle, L., Haiman, C. A., Håkansson, N., Hall, P., Hamann, U., Harrington, P. A., Hein, A., Heyworth, J., Hillemanns, P., Hollestelle, A., Hopper, J. L., Hosgood, H. D., Howell, A., Hu, C., Hulick, P. J., Hunter, D. J., Imyanitov, E. N., Isaacs, C., Jakimovska, M., Jakubowska, A., James, P., Janavicius, R., Janni, W., John, E. M., Jones, M. E., Jung, A., Kaaks, R., Karlan, B. Y., Khusnutdinova, E., Kitahara, C. M., Konstantopoulou, I., Koutros, S., Kraft, P., Lambrechts, D., Lazaro, C., Le Marchand, L., Lester, J., Lesueur, F., Lilyquist, J., Loud, J. T., Lu, K. H., Luben, R. N., Lubinski, J., Mannermaa, A., Manoochehri, M., Manoukian, S., Margolin, S., Martens, J. W. M., Maurer, T., Mavroudis, D., Mebirouk, N., Meindl, A., Menon, U., Miller, A., Montagna, M., Nathanson, K. L., Neuhausen, S. L., Newman, W. G., Nguyen-Dumont, T., Nielsen, F. C., Nielsen, S., Nikitina-Zake, L., Offit, K., Olah, E., Olopade, O. I., Olshan, A. F., Olson, J. E., Olsson, H., Osorio, A., Ottini, L., Peissel, B., Peixoto, A., Peto, J., Plaseska-Karanfilska, D., Pocza, T., Presneau, N., Pujana, M. A., Punie, K., Rack, B., Rantala, J., Rashid, M. U., Rau-Murthy, R., Rennert, G., Lejbkowicz, F., Rhenius, V., Romero, A., Rookus, M. A., Ross, E. A., Rossing, M., Rudaitis, V., Ruebner, M., Saloustros, E., Sanden, K., Santamariña, M., Scheuner, M. T., Schmutzler, R. K., Schneider, M., Scott, C., Senter, L., Shah, M., Sharma, P., Shu, X. O., Simard, J., Singer, C. F., Sohn, C., Soucy, P., Southey, M. C., Spinelli, J. J., Steele, L., Stoppa-Lyonnet, D., Tapper, W. J., Teixeira, M. R., Terry, M. B., Thomassen, M., Thompson, J., Thull, D. L., Tischkowitz, M., Tollenaar, R. A. E. M., Torres, D., Troester, M. A., Truong, T., Tung, N., Untch, M., Vachon, C. M., van Rensburg, E. J., van Veen, E. M., Vega, A., Viel, A., Wappenschmidt, B., Weitzel, J. N., Wendt, C., Wieme, G., Wolk, A., Yang, X. R., Zheng, W., Ziogas, A., Zorn, K. K., Dunning, A. M., Lush, M., Wang, Q., McGuffog, L., Parsons, M. T., Pharoah, P. D. P., Fostira, F., Toland, A. E., Andrulis, I. L., Ramus, S. J., Swerdlow, A. J., Greene, M. H., Chung, W. K., Milne, R. L., Chenevix-Trench, G., Dörk, T., Schmidt, M. K., Easton, D. F., Radice, P., Hahnen, E., Antoniou, A. C., Couch, F. J., Nevanlinna, H., Surrallés, J., & Peterlongo, P. (2019). The . NPJ breast cancer, 538. https://doi.org/10.1038/s41523-019-0127-5
Figlioli, Gisella, et al. "The ." NPJ breast cancer vol. 5 (2019): 38. doi: https://doi.org/10.1038/s41523-019-0127-5
Figlioli G, Bogliolo M, Catucci I, Caleca L, Lasheras SV, Pujol R, Kiiski JI, Muranen TA, Barnes DR, Dennis J, Michailidou K, Bolla MK, Leslie G, Aalfs CM, Adank MA, Adlard J, Agata S, Cadoo K, Agnarsson BA, Ahearn T, Aittomäki K, Ambrosone CB, Andrews L, Anton-Culver H, Antonenkova NN, Arndt V, Arnold N, Aronson KJ, Arun BK, Asseryanis E, Auber B, Auvinen P, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Barwell J, Beane Freeman LE, Beauparlant CJ, Beckmann MW, Behrens S, Benitez J, Berger R, Bermisheva M, Blanco AM, Blomqvist C, Bogdanova NV, Bojesen A, Bojesen SE, Bonanni B, Borg A, Brady AF, Brauch H, Brenner H, Brüning T, Burwinkel B, Buys SS, Caldés T, Caliebe A, Caligo MA, Campa D, Campbell IG, Canzian F, Castelao JE, Chang-Claude J, Chanock SJ, Claes KBM, Clarke CL, Collavoli A, Conner TA, Cox DG, Cybulski C, Czene K, Daly MB, de la Hoya M, Devilee P, Diez O, Ding YC, Dite GS, Ditsch N, Domchek SM, Dorfling CM, Dos-Santos-Silva I, Durda K, Dwek M, Eccles DM, Ekici AB, Eliassen AH, Ellberg C, Eriksson M, Evans DG, Fasching PA, Figueroa J, Flyger H, Foulkes WD, Friebel TM, Friedman E, Gabrielson M, Gaddam P, Gago-Dominguez M, Gao C, Gapstur SM, Garber J, García-Closas M, García-Sáenz JA, Gaudet MM, Gayther SA, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, Guénel P, Gutierrez-Barrera AM, Haeberle L, Haiman CA, Håkansson N, Hall P, Hamann U, Harrington PA, Hein A, Heyworth J, Hillemanns P, Hollestelle A, Hopper JL, Hosgood HD, Howell A, Hu C, Hulick PJ, Hunter DJ, Imyanitov EN, Isaacs C, Jakimovska M, Jakubowska A, James P, Janavicius R, Janni W, John EM, Jones ME, Jung A, Kaaks R, Karlan BY, Khusnutdinova E, Kitahara CM, Konstantopoulou I, Koutros S, Kraft P, Lambrechts D, Lazaro C, Le Marchand L, Lester J, Lesueur F, Lilyquist J, Loud JT, Lu KH, Luben RN, Lubinski J, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martens JWM, Maurer T, Mavroudis D, Mebirouk N, Meindl A, Menon U, Miller A, Montagna M, Nathanson KL, Neuhausen SL, Newman WG, Nguyen-Dumont T, Nielsen FC, Nielsen S, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Olshan AF, Olson JE, Olsson H, Osorio A, Ottini L, Peissel B, Peixoto A, Peto J, Plaseska-Karanfilska D, Pocza T, Presneau N, Pujana MA, Punie K, Rack B, Rantala J, Rashid MU, Rau-Murthy R, Rennert G, Lejbkowicz F, Rhenius V, Romero A, Rookus MA, Ross EA, Rossing M, Rudaitis V, Ruebner M, Saloustros E, Sanden K, Santamariña M, Scheuner MT, Schmutzler RK, Schneider M, Scott C, Senter L, Shah M, Sharma P, Shu XO, Simard J, Singer CF, Sohn C, Soucy P, Southey MC, Spinelli JJ, Steele L, Stoppa-Lyonnet D, Tapper WJ, Teixeira MR, Terry MB, Thomassen M, Thompson J, Thull DL, Tischkowitz M, Tollenaar RAEM, Torres D, Troester MA, Truong T, Tung N, Untch M, Vachon CM, van Rensburg EJ, van Veen EM, Vega A, Viel A, Wappenschmidt B, Weitzel JN, Wendt C, Wieme G, Wolk A, Yang XR, Zheng W, Ziogas A, Zorn KK, Dunning AM, Lush M, Wang Q, McGuffog L, Parsons MT, Pharoah PDP, Fostira F, Toland AE, Andrulis IL, Ramus SJ, Swerdlow AJ, Greene MH, Chung WK, Milne RL, Chenevix-Trench G, Dörk T, Schmidt MK, Easton DF, Radice P, Hahnen E, Antoniou AC, Couch FJ, Nevanlinna H, Surrallés J, Peterlongo P. The . NPJ Breast Cancer. 2019 Nov 01;5:38. doi: 10.1038/s41523-019-0127-5. eCollection 2019. PMID: 31700994; PMCID: PMC6825205.
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