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Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation.

Nature communications

Ghoussaini M, Edwards SL, Michailidou K, Nord S, Cowper-Sal Lari R, Desai K, Kar S, Hillman KM, Kaufmann S, Glubb DM, Beesley J, Dennis J, Bolla MK, Wang Q, Dicks E, Guo Q, Schmidt MK, Shah M, Luben R, Brown J, Czene K, Darabi H, Eriksson M, Klevebring D, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Lambrechts D, Thienpont B, Neven P, Wildiers H, Broeks A, Van't Veer LJ, Rutgers EJT, Couch FJ, Olson JE, Hallberg E, Vachon C, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Peto J, Dos-Santos-Silva I, Gibson L, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Hall P, Li J, Liu J, Humphreys K, Kang D, Choi JY, Park SK, Noh DY, Matsuo K, Ito H, Iwata H, Yatabe Y, Guénel P, Truong T, Menegaux F, Sanchez M, Burwinkel B, Marme F, Schneeweiss A, Sohn C, Wu AH, Tseng CC, Van Den Berg D, Stram DO, Benitez J, Pilar Zamora M, Perez JIA, Menéndez P, Shu XO, Lu W, Gao YT, Cai Q, Cox A, Cross SS, Reed MWR, Andrulis IL, Knight JA, Glendon G, Tchatchou S, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Lindblom A, Margolin S, Teo SH, Yip CH, Lee DSC, Wong TY, Hooning MJ, Martens JWM, Collée JM, van Deurzen CHM, Hopper JL, Southey MC, Tsimiklis H, Kapuscinski MK, Shen CY, Wu PE, Yu JC, Chen ST, Alnæs GG, Borresen-Dale AL, Giles GG, Milne RL, McLean C, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Hartman M, Miao H, Buhari SABS, Teo YY, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Swerdlow A, Ashworth A, Orr N, Schoemaker MJ, García-Closas M, Figueroa J, Chanock SJ, Lissowska J, Simard J, Goldberg MS, Labrèche F, Dumont M, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Brauch H, Brüning T, Koto YD, Radice P, Peterlongo P, Bonanni B, Volorio S, Dörk T, Bogdanova NV, Helbig S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Devilee P, Tollenaar RAEM, Seynaeve C, Van Asperen CJ, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Slager S, Toland AE, Ambrosone CB, Yannoukakos D, Sangrajrang S, Gaborieau V, Brennan P, McKay J, Hamann U, Torres D, Zheng W, Long J, Anton-Culver H, Neuhausen SL, Luccarini C, Baynes C, Ahmed S, Maranian M, Healey CS, González-Neira A, Pita G, Rosario Alonso M, Álvarez N, Herrero D, Tessier DC, Vincent D, Bacot F, de Santiago I, Carroll J, Caldas C, Brown MA, Lupien M, Kristensen VN, Pharoah PDP, Chenevix-Trench G, French JD, Easton DF, Dunning AM.
PMID: 29633761
Nat Commun. 2018 Apr 10;9:16193. doi: 10.1038/ncomms16193.

This corrects the article DOI: 10.1038/ncomms5999.

Cite
Ghoussaini M, Edwards SL, Michailidou K, et al. Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation. Nat Commun. 2018;9:16193doi: 10.1038/ncomms16193.
Ghoussaini, M., Edwards, S. L., Michailidou, K., Nord, S., Cowper-Sal Lari, R., Desai, K., Kar, S., Hillman, K. M., Kaufmann, S., Glubb, D. M., Beesley, J., Dennis, J., Bolla, M. K., Wang, Q., Dicks, E., Guo, Q., Schmidt, M. K., Shah, M., Luben, R., Brown, J., Czene, K., Darabi, H., Eriksson, M., Klevebring, D., Bojesen, S. E., Nordestgaard, B. G., Nielsen, S. F., Flyger, H., Lambrechts, D., Thienpont, B., Neven, P., Wildiers, H., Broeks, A., Van't Veer, L. J., Rutgers, E. J. T., Couch, F. J., Olson, J. E., Hallberg, E., Vachon, C., Chang-Claude, J., Rudolph, A., Seibold, P., Flesch-Janys, D., Peto, J., Dos-Santos-Silva, I., Gibson, L., Nevanlinna, H., Muranen, T. A., Aittomäki, K., Blomqvist, C., Hall, P., Li, J., Liu, J., Humphreys, K., Kang, D., Choi, J. Y., Park, S. K., Noh, D. Y., Matsuo, K., Ito, H., Iwata, H., Yatabe, Y., Guénel, P., Truong, T., Menegaux, F., Sanchez, M., Burwinkel, B., Marme, F., Schneeweiss, A., Sohn, C., Wu, A. H., Tseng, C. C., Van Den Berg, D., Stram, D. O., Benitez, J., Pilar Zamora, M., Perez, J. I. A., Menéndez, P., Shu, X. O., Lu, W., Gao, Y. T., Cai, Q., Cox, A., Cross, S. S., Reed, M. W. R., Andrulis, I. L., Knight, J. A., Glendon, G., Tchatchou, S., Sawyer, E. J., Tomlinson, I., Kerin, M. J., Miller, N., Haiman, C. A., Henderson, B. E., Schumacher, F., Le Marchand, L., Lindblom, A., Margolin, S., Teo, S. H., Yip, C. H., Lee, D. S. C., Wong, T. Y., Hooning, M. J., Martens, J. W. M., Collée, J. M., van Deurzen, C. H. M., Hopper, J. L., Southey, M. C., Tsimiklis, H., Kapuscinski, M. K., Shen, C. Y., Wu, P. E., Yu, J. C., Chen, S. T., Alnæs, G. G., Borresen-Dale, A. L., Giles, G. G., Milne, R. L., McLean, C., Muir, K., Lophatananon, A., Stewart-Brown, S., Siriwanarangsan, P., Hartman, M., Miao, H., Buhari, S. A. B. S., Teo, Y. Y., Fasching, P. A., Haeberle, L., Ekici, A. B., Beckmann, M. W., Brenner, H., Dieffenbach, A. K., Arndt, V., Stegmaier, C., Swerdlow, A., Ashworth, A., Orr, N., Schoemaker, M. J., García-Closas, M., Figueroa, J., Chanock, S. J., Lissowska, J., Simard, J., Goldberg, M. S., Labrèche, F., Dumont, M., Winqvist, R., Pylkäs, K., Jukkola-Vuorinen, A., Brauch, H., Brüning, T., Koto, Y. D., Radice, P., Peterlongo, P., Bonanni, B., Volorio, S., Dörk, T., Bogdanova, N. V., Helbig, S., Mannermaa, A., Kataja, V., Kosma, V. M., Hartikainen, J. M., Devilee, P., Tollenaar, R. A. E. M., Seynaeve, C., Van Asperen, C. J., Jakubowska, A., Lubinski, J., Jaworska-Bieniek, K., Durda, K., Slager, S., Toland, A. E., Ambrosone, C. B., Yannoukakos, D., Sangrajrang, S., Gaborieau, V., Brennan, P., McKay, J., Hamann, U., Torres, D., Zheng, W., Long, J., Anton-Culver, H., Neuhausen, S. L., Luccarini, C., Baynes, C., Ahmed, S., Maranian, M., Healey, C. S., González-Neira, A., Pita, G., Rosario Alonso, M., Álvarez, N., Herrero, D., Tessier, D. C., Vincent, D., Bacot, F., de Santiago, I., Carroll, J., Caldas, C., Brown, M. A., Lupien, M., Kristensen, V. N., Pharoah, P. D. P., Chenevix-Trench, G., French, J. D., Easton, D. F., & Dunning, A. M. (2018). Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation. Nature communications, 916193. https://doi.org/10.1038/ncomms16193
Ghoussaini, Maya, et al. "Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation." Nature communications vol. 9 (2018): 16193. doi: https://doi.org/10.1038/ncomms16193
Ghoussaini M, Edwards SL, Michailidou K, Nord S, Cowper-Sal Lari R, Desai K, Kar S, Hillman KM, Kaufmann S, Glubb DM, Beesley J, Dennis J, Bolla MK, Wang Q, Dicks E, Guo Q, Schmidt MK, Shah M, Luben R, Brown J, Czene K, Darabi H, Eriksson M, Klevebring D, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Lambrechts D, Thienpont B, Neven P, Wildiers H, Broeks A, Van't Veer LJ, Rutgers EJT, Couch FJ, Olson JE, Hallberg E, Vachon C, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Peto J, Dos-Santos-Silva I, Gibson L, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Hall P, Li J, Liu J, Humphreys K, Kang D, Choi JY, Park SK, Noh DY, Matsuo K, Ito H, Iwata H, Yatabe Y, Guénel P, Truong T, Menegaux F, Sanchez M, Burwinkel B, Marme F, Schneeweiss A, Sohn C, Wu AH, Tseng CC, Van Den Berg D, Stram DO, Benitez J, Pilar Zamora M, Perez JIA, Menéndez P, Shu XO, Lu W, Gao YT, Cai Q, Cox A, Cross SS, Reed MWR, Andrulis IL, Knight JA, Glendon G, Tchatchou S, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Lindblom A, Margolin S, Teo SH, Yip CH, Lee DSC, Wong TY, Hooning MJ, Martens JWM, Collée JM, van Deurzen CHM, Hopper JL, Southey MC, Tsimiklis H, Kapuscinski MK, Shen CY, Wu PE, Yu JC, Chen ST, Alnæs GG, Borresen-Dale AL, Giles GG, Milne RL, McLean C, Muir K, Lophatananon A, Stewart-Brown S, Siriwanarangsan P, Hartman M, Miao H, Buhari SABS, Teo YY, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Swerdlow A, Ashworth A, Orr N, Schoemaker MJ, García-Closas M, Figueroa J, Chanock SJ, Lissowska J, Simard J, Goldberg MS, Labrèche F, Dumont M, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Brauch H, Brüning T, Koto YD, Radice P, Peterlongo P, Bonanni B, Volorio S, Dörk T, Bogdanova NV, Helbig S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Devilee P, Tollenaar RAEM, Seynaeve C, Van Asperen CJ, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Slager S, Toland AE, Ambrosone CB, Yannoukakos D, Sangrajrang S, Gaborieau V, Brennan P, McKay J, Hamann U, Torres D, Zheng W, Long J, Anton-Culver H, Neuhausen SL, Luccarini C, Baynes C, Ahmed S, Maranian M, Healey CS, González-Neira A, Pita G, Rosario Alonso M, Álvarez N, Herrero D, Tessier DC, Vincent D, Bacot F, de Santiago I, Carroll J, Caldas C, Brown MA, Lupien M, Kristensen VN, Pharoah PDP, Chenevix-Trench G, French JD, Easton DF, Dunning AM. Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation. Nat Commun. 2018 Apr 10;9:16193. doi: 10.1038/ncomms16193. PMID: 29633761; PMCID: PMC5898457.
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Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers.

Nature communications

Coignard J, Lush M, Beesley J, O'Mara TA, Dennis J, Tyrer JP, Barnes DR, McGuffog L, Leslie G, Bolla MK, Adank MA, Agata S, Ahearn T, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Arnold N, Aronson KJ, Arun BK, Augustinsson A, Azzollini J, Barrowdale D, Baynes C, Becher H, Bermisheva M, Bernstein L, Białkowska K, Blomqvist C, Bojesen SE, Bonanni B, Borg A, Brauch H, Brenner H, Burwinkel B, Buys SS, Caldés T, Caligo MA, Campa D, Carter BD, Castelao JE, Chang-Claude J, Chanock SJ, Chung WK, Claes KBM, Clarke CL, Collée JM, Conroy DM, Czene K, Daly MB, Devilee P, Diez O, Ding YC, Domchek SM, Dörk T, Dos-Santos-Silva I, Dunning AM, Dwek M, Eccles DM, Eliassen AH, Engel C, Eriksson M, Evans DG, Fasching PA, Flyger H, Fostira F, Friedman E, Fritschi L, Frost D, Gago-Dominguez M, Gapstur SM, Garber J, Garcia-Barberan V, García-Closas M, García-Sáenz JA, Gaudet MM, Gayther SA, Gehrig A, Georgoulias V, Giles GG, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Guénel P, Haeberle L, Hahnen E, Haiman CA, Håkansson N, Hall P, Hamann U, Harrington PA, Hart SN, He W, Hogervorst FBL, Hollestelle A, Hopper JL, Horcasitas DJ, Hulick PJ, Hunter DJ, Imyanitov EN, Jager A, Jakubowska A, James PA, Jensen UB, John EM, Jones ME, Kaaks R, Kapoor PM, Karlan BY, Keeman R, Khusnutdinova E, Kiiski JI, Ko YD, Kosma VM, Kraft P, Kurian AW, Laitman Y, Lambrechts D, Le Marchand L, Lester J, Lesueur F, Lindstrom T, Lopez-Fernández A, Loud JT, Luccarini C, Mannermaa A, Manoukian S, Margolin S, Martens JWM, Mebirouk N, Meindl A, Miller A, Milne RL, Montagna M, Nathanson KL, Neuhausen SL, Nevanlinna H, Nielsen FC, O'Brien KM, Olopade OI, Olson JE, Olsson H, Osorio A, Ottini L, Park-Simon TW, Parsons MT, Pedersen IS, Peshkin B, Peterlongo P, Peto J, Pharoah PDP, Phillips KA, Polley EC, Poppe B, Presneau N, Pujana MA, Punie K, Radice P, Rantala J, Rashid MU, Rennert G, Rennert HS, Robson M, Romero A, Rossing M, Saloustros E, Sandler DP, Santella R, Scheuner MT, Schmidt MK, Schmidt G, Scott C, Sharma P, Soucy P, Southey MC, Spinelli JJ, Steinsnyder Z, Stone J, Stoppa-Lyonnet D, Swerdlow A, Tamimi RM, Tapper WJ, Taylor JA, Terry MB, Teulé A, Thull DL, Tischkowitz M, Toland AE, Torres D, Trainer AH, Truong T, Tung N, Vachon CM, Vega A, Vijai J, Wang Q, Wappenschmidt B, Weinberg CR, Weitzel JN, Wendt C, Wolk A, Yadav S, Yang XR, Yannoukakos D, Zheng W, Ziogas A, Zorn KK, Park SK, Thomassen M, Offit K, Schmutzler RK, Couch FJ, Simard J, Chenevix-Trench G, Easton DF, Andrieu N, Antoniou AC.
PMID: 33990587
Nat Commun. 2021 May 14;12(1):2986. doi: 10.1038/s41467-021-23162-4.

A Correction to this paper has been published: https://doi.org/10.1038/s41467-021-23162-4.

Cite
Coignard J, Lush M, Beesley J, et al. Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers. Nat Commun. 2021;12(1):2986doi: 10.1038/s41467-021-23162-4.
Coignard, J., Lush, M., Beesley, J., O'Mara, T. A., Dennis, J., Tyrer, J. P., Barnes, D. R., McGuffog, L., Leslie, G., Bolla, M. K., Adank, M. A., Agata, S., Ahearn, T., Aittomäki, K., Andrulis, I. L., Anton-Culver, H., Arndt, V., Arnold, N., Aronson, K. J., Arun, B. K., Augustinsson, A., Azzollini, J., Barrowdale, D., Baynes, C., Becher, H., Bermisheva, M., Bernstein, L., Białkowska, K., Blomqvist, C., Bojesen, S. E., Bonanni, B., Borg, A., Brauch, H., Brenner, H., Burwinkel, B., Buys, S. S., Caldés, T., Caligo, M. A., Campa, D., Carter, B. D., Castelao, J. E., Chang-Claude, J., Chanock, S. J., Chung, W. K., Claes, K. B. M., Clarke, C. L., Collée, J. M., Conroy, D. M., Czene, K., Daly, M. B., Devilee, P., Diez, O., Ding, Y. C., Domchek, S. M., Dörk, T., Dos-Santos-Silva, I., Dunning, A. M., Dwek, M., Eccles, D. M., Eliassen, A. H., Engel, C., Eriksson, M., Evans, D. G., Fasching, P. A., Flyger, H., Fostira, F., Friedman, E., Fritschi, L., Frost, D., Gago-Dominguez, M., Gapstur, S. M., Garber, J., Garcia-Barberan, V., García-Closas, M., García-Sáenz, J. A., Gaudet, M. M., Gayther, S. A., Gehrig, A., Georgoulias, V., Giles, G. G., Godwin, A. K., Goldberg, M. S., Goldgar, D. E., González-Neira, A., Greene, M. H., Guénel, P., Haeberle, L., Hahnen, E., Haiman, C. A., Håkansson, N., Hall, P., Hamann, U., Harrington, P. A., Hart, S. N., He, W., Hogervorst, F. B. L., Hollestelle, A., Hopper, J. L., Horcasitas, D. J., Hulick, P. J., Hunter, D. J., Imyanitov, E. N., Jager, A., Jakubowska, A., James, P. A., Jensen, U. B., John, E. M., Jones, M. E., Kaaks, R., Kapoor, P. M., Karlan, B. Y., Keeman, R., Khusnutdinova, E., Kiiski, J. I., Ko, Y. D., Kosma, V. M., Kraft, P., Kurian, A. W., Laitman, Y., Lambrechts, D., Le Marchand, L., Lester, J., Lesueur, F., Lindstrom, T., Lopez-Fernández, A., Loud, J. T., Luccarini, C., Mannermaa, A., Manoukian, S., Margolin, S., Martens, J. W. M., Mebirouk, N., Meindl, A., Miller, A., Milne, R. L., Montagna, M., Nathanson, K. L., Neuhausen, S. L., Nevanlinna, H., Nielsen, F. C., O'Brien, K. M., Olopade, O. I., Olson, J. E., Olsson, H., Osorio, A., Ottini, L., Park-Simon, T. W., Parsons, M. T., Pedersen, I. S., Peshkin, B., Peterlongo, P., Peto, J., Pharoah, P. D. P., Phillips, K. A., Polley, E. C., Poppe, B., Presneau, N., Pujana, M. A., Punie, K., Radice, P., Rantala, J., Rashid, M. U., Rennert, G., Rennert, H. S., Robson, M., Romero, A., Rossing, M., Saloustros, E., Sandler, D. P., Santella, R., Scheuner, M. T., Schmidt, M. K., Schmidt, G., Scott, C., Sharma, P., Soucy, P., Southey, M. C., Spinelli, J. J., Steinsnyder, Z., Stone, J., Stoppa-Lyonnet, D., Swerdlow, A., Tamimi, R. M., Tapper, W. J., Taylor, J. A., Terry, M. B., Teulé, A., Thull, D. L., Tischkowitz, M., Toland, A. E., Torres, D., Trainer, A. H., Truong, T., Tung, N., Vachon, C. M., Vega, A., Vijai, J., Wang, Q., Wappenschmidt, B., Weinberg, C. R., Weitzel, J. N., Wendt, C., Wolk, A., Yadav, S., Yang, X. R., Yannoukakos, D., Zheng, W., Ziogas, A., Zorn, K. K., Park, S. K., Thomassen, M., Offit, K., Schmutzler, R. K., Couch, F. J., Simard, J., Chenevix-Trench, G., Easton, D. F., Andrieu, N., & Antoniou, A. C. (2021). Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers. Nature communications, 12(1), 2986. https://doi.org/10.1038/s41467-021-23162-4
Coignard, Juliette, et al. "Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers." Nature communications vol. 12,1 (2021): 2986. doi: https://doi.org/10.1038/s41467-021-23162-4
Coignard J, Lush M, Beesley J, O'Mara TA, Dennis J, Tyrer JP, Barnes DR, McGuffog L, Leslie G, Bolla MK, Adank MA, Agata S, Ahearn T, Aittomäki K, Andrulis IL, Anton-Culver H, Arndt V, Arnold N, Aronson KJ, Arun BK, Augustinsson A, Azzollini J, Barrowdale D, Baynes C, Becher H, Bermisheva M, Bernstein L, Białkowska K, Blomqvist C, Bojesen SE, Bonanni B, Borg A, Brauch H, Brenner H, Burwinkel B, Buys SS, Caldés T, Caligo MA, Campa D, Carter BD, Castelao JE, Chang-Claude J, Chanock SJ, Chung WK, Claes KBM, Clarke CL, Collée JM, Conroy DM, Czene K, Daly MB, Devilee P, Diez O, Ding YC, Domchek SM, Dörk T, Dos-Santos-Silva I, Dunning AM, Dwek M, Eccles DM, Eliassen AH, Engel C, Eriksson M, Evans DG, Fasching PA, Flyger H, Fostira F, Friedman E, Fritschi L, Frost D, Gago-Dominguez M, Gapstur SM, Garber J, Garcia-Barberan V, García-Closas M, García-Sáenz JA, Gaudet MM, Gayther SA, Gehrig A, Georgoulias V, Giles GG, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Guénel P, Haeberle L, Hahnen E, Haiman CA, Håkansson N, Hall P, Hamann U, Harrington PA, Hart SN, He W, Hogervorst FBL, Hollestelle A, Hopper JL, Horcasitas DJ, Hulick PJ, Hunter DJ, Imyanitov EN, Jager A, Jakubowska A, James PA, Jensen UB, John EM, Jones ME, Kaaks R, Kapoor PM, Karlan BY, Keeman R, Khusnutdinova E, Kiiski JI, Ko YD, Kosma VM, Kraft P, Kurian AW, Laitman Y, Lambrechts D, Le Marchand L, Lester J, Lesueur F, Lindstrom T, Lopez-Fernández A, Loud JT, Luccarini C, Mannermaa A, Manoukian S, Margolin S, Martens JWM, Mebirouk N, Meindl A, Miller A, Milne RL, Montagna M, Nathanson KL, Neuhausen SL, Nevanlinna H, Nielsen FC, O'Brien KM, Olopade OI, Olson JE, Olsson H, Osorio A, Ottini L, Park-Simon TW, Parsons MT, Pedersen IS, Peshkin B, Peterlongo P, Peto J, Pharoah PDP, Phillips KA, Polley EC, Poppe B, Presneau N, Pujana MA, Punie K, Radice P, Rantala J, Rashid MU, Rennert G, Rennert HS, Robson M, Romero A, Rossing M, Saloustros E, Sandler DP, Santella R, Scheuner MT, Schmidt MK, Schmidt G, Scott C, Sharma P, Soucy P, Southey MC, Spinelli JJ, Steinsnyder Z, Stone J, Stoppa-Lyonnet D, Swerdlow A, Tamimi RM, Tapper WJ, Taylor JA, Terry MB, Teulé A, Thull DL, Tischkowitz M, Toland AE, Torres D, Trainer AH, Truong T, Tung N, Vachon CM, Vega A, Vijai J, Wang Q, Wappenschmidt B, Weinberg CR, Weitzel JN, Wendt C, Wolk A, Yadav S, Yang XR, Yannoukakos D, Zheng W, Ziogas A, Zorn KK, Park SK, Thomassen M, Offit K, Schmutzler RK, Couch FJ, Simard J, Chenevix-Trench G, Easton DF, Andrieu N, Antoniou AC. Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers. Nat Commun. 2021 May 14;12(1):2986. doi: 10.1038/s41467-021-23162-4. PMID: 33990587; PMCID: PMC8121813.
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When cascade testing for familial variant seems inadequate to provide clinically actionable information for blood relatives.

Cancer genetics

Apostolou P, Fostira F, Fountzilas G, Razis E, Yannoukakos D, Konstantopoulou I.
PMID: 34478935
Cancer Genet. 2021 Nov;258:49-50. doi: 10.1016/j.cancergen.2021.08.003. Epub 2021 Aug 24.

No abstract available.

Cite
Apostolou P, Fostira F, Fountzilas G, et al. When cascade testing for familial variant seems inadequate to provide clinically actionable information for blood relatives. Cancer Genet. 2021;258:49-50doi: 10.1016/j.cancergen.2021.08.003.
Apostolou, P., Fostira, F., Fountzilas, G., Razis, E., Yannoukakos, D., & Konstantopoulou, I. (2021). When cascade testing for familial variant seems inadequate to provide clinically actionable information for blood relatives. Cancer genetics, 25849-50. https://doi.org/10.1016/j.cancergen.2021.08.003
Apostolou, Paraskevi, et al. "When cascade testing for familial variant seems inadequate to provide clinically actionable information for blood relatives." Cancer genetics vol. 258 (2021): 49-50. doi: https://doi.org/10.1016/j.cancergen.2021.08.003
Apostolou P, Fostira F, Fountzilas G, Razis E, Yannoukakos D, Konstantopoulou I. When cascade testing for familial variant seems inadequate to provide clinically actionable information for blood relatives. Cancer Genet. 2021 Nov;258:49-50. doi: 10.1016/j.cancergen.2021.08.003. Epub 2021 Aug 24. PMID: 34478935.
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Pitfalls in variant annotation for hereditary cancer diagnostics: The example of Illumina® VariantStudio®.

Genomics

Kalfakakou D, Konstantopoulou I, Yannoukakos D, Fostira F.
PMID: 33053411
Genomics. 2021 Jan;113(1):748-754. doi: 10.1016/j.ygeno.2020.10.005. Epub 2020 Oct 11.

Next Generation Sequencing (NGS), and specifically targeted panel sequencing is the state-of-the-art in clinical genetic diagnosis of Mendelian diseases. However, the bioinformatics analysis and interpretation of the generated data can be challenging. A spotlight on the default transcript selection...

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Kalfakakou D, Konstantopoulou I, Yannoukakos D, et al. Pitfalls in variant annotation for hereditary cancer diagnostics: The example of Illumina® VariantStudio®. Genomics. 2020;113(1):748-754doi: 10.1016/j.ygeno.2020.10.005.
Kalfakakou, D., Konstantopoulou, I., Yannoukakos, D., & Fostira, F. (2021). Pitfalls in variant annotation for hereditary cancer diagnostics: The example of Illumina® VariantStudio®. Genomics, 113(1), 748-754. https://doi.org/10.1016/j.ygeno.2020.10.005
Kalfakakou, Despoina, et al. "Pitfalls in variant annotation for hereditary cancer diagnostics: The example of Illumina® VariantStudio®." Genomics vol. 113,1 (2021): 748-754. doi: https://doi.org/10.1016/j.ygeno.2020.10.005
Kalfakakou D, Konstantopoulou I, Yannoukakos D, Fostira F. Pitfalls in variant annotation for hereditary cancer diagnostics: The example of Illumina® VariantStudio®. Genomics. 2021 Jan;113(1):748-754. doi: 10.1016/j.ygeno.2020.10.005. Epub 2020 Oct 11. PMID: 33053411.
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CanVaS: Documenting the genetic variation spectrum of Greek cancer patients.

Human mutation

Kalfakakou D, Fostira F, Papathanasiou A, Apostolou P, Dellatola V, Gavra IE, Vlachos IS, Scouras ZG, Drosopoulou E, Yannoukakos D, Konstantopoulou I.
PMID: 34174131
Hum Mutat. 2021 Sep;42(9):1081-1093. doi: 10.1002/humu.24249. Epub 2021 Jul 06.

National genetic variation registries vastly increase the level of detail for the relevant population, while directly affecting patient management. Herein, we report CanVaS, a Cancer Variation reSource aiming to document the genetic variation of cancer patients in Greece. CanVaS...

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Kalfakakou D, Fostira F, Papathanasiou A, et al. CanVaS: Documenting the genetic variation spectrum of Greek cancer patients. Hum Mutat. 2021;42(9):1081-1093doi: 10.1002/humu.24249.
Kalfakakou, D., Fostira, F., Papathanasiou, A., Apostolou, P., Dellatola, V., Gavra, I. E., Vlachos, I. S., Scouras, Z. G., Drosopoulou, E., Yannoukakos, D., & Konstantopoulou, I. (2021). CanVaS: Documenting the genetic variation spectrum of Greek cancer patients. Human mutation, 42(9), 1081-1093. https://doi.org/10.1002/humu.24249
Kalfakakou, Despoina, et al. "CanVaS: Documenting the genetic variation spectrum of Greek cancer patients." Human mutation vol. 42,9 (2021): 1081-1093. doi: https://doi.org/10.1002/humu.24249
Kalfakakou D, Fostira F, Papathanasiou A, Apostolou P, Dellatola V, Gavra IE, Vlachos IS, Scouras ZG, Drosopoulou E, Yannoukakos D, Konstantopoulou I. CanVaS: Documenting the genetic variation spectrum of Greek cancer patients. Hum Mutat. 2021 Sep;42(9):1081-1093. doi: 10.1002/humu.24249. Epub 2021 Jul 06. PMID: 34174131.
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A Patient Affected with Serous Ovarian/Peritoneal Carcinoma Carrying the .

Case reports in oncological medicine

Nikolaidi A, Konstantopoulou I, Pistalmantzian N, Fostira F, Yannoukakos D, Athanasiadis I.
PMID: 31223512
Case Rep Oncol Med. 2019 May 16;2019:9357924. doi: 10.1155/2019/9357924. eCollection 2019.

We report a case of a 58-year-old female with ovarian cancer. The patient presented with ascites, and the biopsies revealed a low-grade adenocarcinoma, either a serous papillary ovarian cancer with peritoneal implants or a primary peritoneal carcinoma. She received...

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Nikolaidi A, Konstantopoulou I, Pistalmantzian N, et al. A Patient Affected with Serous Ovarian/Peritoneal Carcinoma Carrying the . Case Rep Oncol Med. 2019;2019:9357924doi: 10.1155/2019/9357924.
Nikolaidi, A., Konstantopoulou, I., Pistalmantzian, N., Fostira, F., Yannoukakos, D., & Athanasiadis, I. (2019). A Patient Affected with Serous Ovarian/Peritoneal Carcinoma Carrying the . Case reports in oncological medicine, 20199357924. https://doi.org/10.1155/2019/9357924
Nikolaidi, Adamantia, et al. "A Patient Affected with Serous Ovarian/Peritoneal Carcinoma Carrying the ." Case reports in oncological medicine vol. 2019 (2019): 9357924. doi: https://doi.org/10.1155/2019/9357924
Nikolaidi A, Konstantopoulou I, Pistalmantzian N, Fostira F, Yannoukakos D, Athanasiadis I. A Patient Affected with Serous Ovarian/Peritoneal Carcinoma Carrying the . Case Rep Oncol Med. 2019 May 16;2019:9357924. doi: 10.1155/2019/9357924. eCollection 2019. PMID: 31223512; PMCID: PMC6541994.
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Association of germline variation with the survival of women with .

NPJ breast cancer

Muranen TA, Khan S, Fagerholm R, Aittomäki K, Cunningham JM, Dennis J, Leslie G, McGuffog L, Parsons MT, Simard J, Slager S, Soucy P, Easton DF, Tischkowitz M, Spurdle AB, Schmutzler RK, Wappenschmidt B, Hahnen E, Hooning MJ, Singer CF, Wagner G, Thomassen M, Pedersen IS, Domchek SM, Nathanson KL, Lazaro C, Rossing CM, Andrulis IL, Teixeira MR, James P, Garber J, Weitzel JN, Jakubowska A, Yannoukakos D, John EM, Southey MC, Schmidt MK, Antoniou AC, Chenevix-Trench G, Blomqvist C, Nevanlinna H.
PMID: 32964118
NPJ Breast Cancer. 2020 Sep 10;6:44. doi: 10.1038/s41523-020-00185-6. eCollection 2020.

Germline genetic variation has been suggested to influence the survival of breast cancer patients independently of tumor pathology. We have studied survival associations of genetic variants in two etiologically unique groups of breast cancer patients, the carriers of germline...

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Muranen TA, Khan S, Fagerholm R, et al. Association of germline variation with the survival of women with . NPJ Breast Cancer. 2020;6:44doi: 10.1038/s41523-020-00185-6.
Muranen, T. A., Khan, S., Fagerholm, R., Aittomäki, K., Cunningham, J. M., Dennis, J., Leslie, G., McGuffog, L., Parsons, M. T., Simard, J., Slager, S., Soucy, P., Easton, D. F., Tischkowitz, M., Spurdle, A. B., Schmutzler, R. K., Wappenschmidt, B., Hahnen, E., Hooning, M. J., Singer, C. F., Wagner, G., Thomassen, M., Pedersen, I. S., Domchek, S. M., Nathanson, K. L., Lazaro, C., Rossing, C. M., Andrulis, I. L., Teixeira, M. R., James, P., Garber, J., Weitzel, J. N., Jakubowska, A., Yannoukakos, D., John, E. M., Southey, M. C., Schmidt, M. K., Antoniou, A. C., Chenevix-Trench, G., Blomqvist, C., & Nevanlinna, H. (2020). Association of germline variation with the survival of women with . NPJ breast cancer, 644. https://doi.org/10.1038/s41523-020-00185-6
Muranen, Taru A, et al. "Association of germline variation with the survival of women with ." NPJ breast cancer vol. 6 (2020): 44. doi: https://doi.org/10.1038/s41523-020-00185-6
Muranen TA, Khan S, Fagerholm R, Aittomäki K, Cunningham JM, Dennis J, Leslie G, McGuffog L, Parsons MT, Simard J, Slager S, Soucy P, Easton DF, Tischkowitz M, Spurdle AB, Schmutzler RK, Wappenschmidt B, Hahnen E, Hooning MJ, Singer CF, Wagner G, Thomassen M, Pedersen IS, Domchek SM, Nathanson KL, Lazaro C, Rossing CM, Andrulis IL, Teixeira MR, James P, Garber J, Weitzel JN, Jakubowska A, Yannoukakos D, John EM, Southey MC, Schmidt MK, Antoniou AC, Chenevix-Trench G, Blomqvist C, Nevanlinna H. Association of germline variation with the survival of women with . NPJ Breast Cancer. 2020 Sep 10;6:44. doi: 10.1038/s41523-020-00185-6. eCollection 2020. PMID: 32964118; PMCID: PMC7483417.
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Polygenic risk modeling for prediction of epithelial ovarian cancer risk.

European journal of human genetics : EJHG

Dareng EO, Tyrer JP, Barnes DR, Jones MR, Yang X, Aben KKH, Adank MA, Agata S, Andrulis IL, Anton-Culver H, Antonenkova NN, Aravantinos G, Arun BK, Augustinsson A, Balmaña J, Bandera EV, Barkardottir RB, Barrowdale D, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bermisheva M, Bernardini MQ, Bjorge L, Black A, Bogdanova NV, Bonanni B, Borg A, Brenton JD, Budzilowska A, Butzow R, Buys SS, Cai H, Caligo MA, Campbell I, Cannioto R, Cassingham H, Chang-Claude J, Chanock SJ, Chen K, Chiew YE, Chung WK, Claes KBM, Colonna S, Cook LS, Couch FJ, Daly MB, Dao F, Davies E, de la Hoya M, de Putter R, Dennis J, DePersia A, Devilee P, Diez O, Ding YC, Doherty JA, Domchek SM, Dörk T, du Bois A, Dürst M, Eccles DM, Eliassen HA, Engel C, Evans GD, Fasching PA, Flanagan JM, Fortner RT, Machackova E, Friedman E, Ganz PA, Garber J, Gensini F, Giles GG, Glendon G, Godwin AK, Goodman MT, Greene MH, Gronwald J, Hahnen E, Haiman CA, Håkansson N, Hamann U, Hansen TVO, Harris HR, Hartman M, Heitz F, Hildebrandt MAT, Høgdall E, Høgdall CK, Hopper JL, Huang RY, Huff C, Hulick PJ, Huntsman DG, Imyanitov EN, Isaacs C, Jakubowska A, James PA, Janavicius R, Jensen A, Johannsson OT, John EM, Jones ME, Kang D, Karlan BY, Karnezis A, Kelemen LE, Khusnutdinova E, Kiemeney LA, Kim BG, Kjaer SK, Komenaka I, Kupryjanczyk J, Kurian AW, Kwong A, Lambrechts D, Larson MC, Lazaro C, Le ND, Leslie G, Lester J, Lesueur F, Levine DA, Li L, Li J, Loud JT, Lu KH, Lubiński J, Mai PL, Manoukian S, Marks JR, Matsuno RK, Matsuo K, May T, McGuffog L, McLaughlin JR, McNeish IA, Mebirouk N, Menon U, Miller A, Milne RL, Minlikeeva A, Modugno F, Montagna M, Moysich KB, Munro E, Nathanson KL, Neuhausen SL, Nevanlinna H, Yie JNY, Nielsen HR, Nielsen FC, Nikitina-Zake L, Odunsi K, Offit K, Olah E, Olbrecht S, Olopade OI, Olson SH, Olsson H, Osorio A, Papi L, Park SK, Parsons MT, Pathak H, Pedersen IS, Peixoto A, Pejovic T, Perez-Segura P, Permuth JB, Peshkin B, Peterlongo P, Piskorz A, Prokofyeva D, Radice P, Rantala J, Riggan MJ, Risch HA, Rodriguez-Antona C, Ross E, Rossing MA, Runnebaum I, Sandler DP, Santamariña M, Soucy P, Schmutzler RK, Setiawan VW, Shan K, Sieh W, Simard J, Singer CF, Sokolenko AP, Song H, Southey MC, Steed H, Stoppa-Lyonnet D, Sutphen R, Swerdlow AJ, Tan YY, Teixeira MR, Teo SH, Terry KL, Terry MB, Thomassen M, Thompson PJ, Thomsen LCV, Thull DL, Tischkowitz M, Titus L, Toland AE, Torres D, Trabert B, Travis R, Tung N, Tworoger SS, Valen E, van Altena AM, van der Hout AH, Van Nieuwenhuysen E, van Rensburg EJ, Vega A, Edwards DV, Vierkant RA, Wang F, Wappenschmidt B, Webb PM, Weinberg CR, Weitzel JN, Wentzensen N, White E, Whittemore AS, Winham SJ, Wolk A, Woo YL, Wu AH, Yan L, Yannoukakos D, Zavaglia KM, Zheng W, Ziogas A, Zorn KK, Kleibl Z, Easton D, Lawrenson K, DeFazio A, Sellers TA, Ramus SJ, Pearce CL, Monteiro AN, Cunningham J, Goode EL, Schildkraut JM, Berchuck A, Chenevix-Trench G, Gayther SA, Antoniou AC, Pharoah PDP.
PMID: 35027648
Eur J Hum Genet. 2022 Jan 14; doi: 10.1038/s41431-021-00987-7. Epub 2022 Jan 14.

Polygenic risk scores (PRS) for epithelial ovarian cancer (EOC) have the potential to improve risk stratification. Joint estimation of Single Nucleotide Polymorphism (SNP) effects in models could improve predictive performance over standard approaches of PRS construction. Here, we implemented...

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Dareng EO, Tyrer JP, Barnes DR, et al. Polygenic risk modeling for prediction of epithelial ovarian cancer risk. Eur J Hum Genet. 2022;doi: 10.1038/s41431-021-00987-7.
Dareng, E. O., Tyrer, J. P., Barnes, D. R., Jones, M. R., Yang, X., Aben, K. K. H., Adank, M. A., Agata, S., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Aravantinos, G., Arun, B. K., Augustinsson, A., Balmaña, J., Bandera, E. V., Barkardottir, R. B., Barrowdale, D., Beckmann, M. W., Beeghly-Fadiel, A., Benitez, J., Bermisheva, M., Bernardini, M. Q., Bjorge, L., Black, A., Bogdanova, N. V., Bonanni, B., Borg, A., Brenton, J. D., Budzilowska, A., Butzow, R., Buys, S. S., Cai, H., Caligo, M. A., Campbell, I., Cannioto, R., Cassingham, H., Chang-Claude, J., Chanock, S. J., Chen, K., Chiew, Y. E., Chung, W. K., Claes, K. B. M., Colonna, S., Cook, L. S., Couch, F. J., Daly, M. B., Dao, F., Davies, E., de la Hoya, M., de Putter, R., Dennis, J., DePersia, A., Devilee, P., Diez, O., Ding, Y. C., Doherty, J. A., Domchek, S. M., Dörk, T., du Bois, A., Dürst, M., Eccles, D. M., Eliassen, H. A., Engel, C., Evans, G. D., Fasching, P. A., Flanagan, J. M., Fortner, R. T., Machackova, E., Friedman, E., Ganz, P. A., Garber, J., Gensini, F., Giles, G. G., Glendon, G., Godwin, A. K., Goodman, M. T., Greene, M. H., Gronwald, J., Hahnen, E., Haiman, C. A., Håkansson, N., Hamann, U., Hansen, T. V. O., Harris, H. R., Hartman, M., Heitz, F., Hildebrandt, M. A. T., Høgdall, E., Høgdall, C. K., Hopper, J. L., Huang, R. Y., Huff, C., Hulick, P. J., Huntsman, D. G., Imyanitov, E. N., Isaacs, C., Jakubowska, A., James, P. A., Janavicius, R., Jensen, A., Johannsson, O. T., John, E. M., Jones, M. E., Kang, D., Karlan, B. Y., Karnezis, A., Kelemen, L. E., Khusnutdinova, E., Kiemeney, L. A., Kim, B. G., Kjaer, S. K., Komenaka, I., Kupryjanczyk, J., Kurian, A. W., Kwong, A., Lambrechts, D., Larson, M. C., Lazaro, C., Le, N. D., Leslie, G., Lester, J., Lesueur, F., Levine, D. A., Li, L., Li, J., Loud, J. T., Lu, K. H., Lubiński, J., Mai, P. L., Manoukian, S., Marks, J. R., Matsuno, R. K., Matsuo, K., May, T., McGuffog, L., McLaughlin, J. R., McNeish, I. A., Mebirouk, N., Menon, U., Miller, A., Milne, R. L., Minlikeeva, A., Modugno, F., Montagna, M., Moysich, K. B., Munro, E., Nathanson, K. L., Neuhausen, S. L., Nevanlinna, H., Yie, J. N. Y., Nielsen, H. R., Nielsen, F. C., Nikitina-Zake, L., Odunsi, K., Offit, K., Olah, E., Olbrecht, S., Olopade, O. I., Olson, S. H., Olsson, H., Osorio, A., Papi, L., Park, S. K., Parsons, M. T., Pathak, H., Pedersen, I. S., Peixoto, A., Pejovic, T., Perez-Segura, P., Permuth, J. B., Peshkin, B., Peterlongo, P., Piskorz, A., Prokofyeva, D., Radice, P., Rantala, J., Riggan, M. J., Risch, H. A., Rodriguez-Antona, C., Ross, E., Rossing, M. A., Runnebaum, I., Sandler, D. P., Santamariña, M., Soucy, P., Schmutzler, R. K., Setiawan, V. W., Shan, K., Sieh, W., Simard, J., Singer, C. F., Sokolenko, A. P., Song, H., Southey, M. C., Steed, H., Stoppa-Lyonnet, D., Sutphen, R., Swerdlow, A. J., Tan, Y. Y., Teixeira, M. R., Teo, S. H., Terry, K. L., Terry, M. B., Thomassen, M., Thompson, P. J., Thomsen, L. C. V., Thull, D. L., Tischkowitz, M., Titus, L., Toland, A. E., Torres, D., Trabert, B., Travis, R., Tung, N., Tworoger, S. S., Valen, E., van Altena, A. M., van der Hout, A. H., Van Nieuwenhuysen, E., van Rensburg, E. J., Vega, A., Edwards, D. V., Vierkant, R. A., Wang, F., Wappenschmidt, B., Webb, P. M., Weinberg, C. R., Weitzel, J. N., Wentzensen, N., White, E., Whittemore, A. S., Winham, S. J., Wolk, A., Woo, Y. L., Wu, A. H., Yan, L., Yannoukakos, D., Zavaglia, K. M., Zheng, W., Ziogas, A., Zorn, K. K., Kleibl, Z., Easton, D., Lawrenson, K., DeFazio, A., Sellers, T. A., Ramus, S. J., Pearce, C. L., Monteiro, A. N., Cunningham, J., Goode, E. L., Schildkraut, J. M., Berchuck, A., Chenevix-Trench, G., Gayther, S. A., Antoniou, A. C., & Pharoah, P. D. P. (2022). Polygenic risk modeling for prediction of epithelial ovarian cancer risk. European journal of human genetics : EJHG, . https://doi.org/10.1038/s41431-021-00987-7
Dareng, Eileen O, et al. "Polygenic risk modeling for prediction of epithelial ovarian cancer risk." European journal of human genetics : EJHG vol. (2022). doi: https://doi.org/10.1038/s41431-021-00987-7
Dareng EO, Tyrer JP, Barnes DR, Jones MR, Yang X, Aben KKH, Adank MA, Agata S, Andrulis IL, Anton-Culver H, Antonenkova NN, Aravantinos G, Arun BK, Augustinsson A, Balmaña J, Bandera EV, Barkardottir RB, Barrowdale D, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bermisheva M, Bernardini MQ, Bjorge L, Black A, Bogdanova NV, Bonanni B, Borg A, Brenton JD, Budzilowska A, Butzow R, Buys SS, Cai H, Caligo MA, Campbell I, Cannioto R, Cassingham H, Chang-Claude J, Chanock SJ, Chen K, Chiew YE, Chung WK, Claes KBM, Colonna S, Cook LS, Couch FJ, Daly MB, Dao F, Davies E, de la Hoya M, de Putter R, Dennis J, DePersia A, Devilee P, Diez O, Ding YC, Doherty JA, Domchek SM, Dörk T, du Bois A, Dürst M, Eccles DM, Eliassen HA, Engel C, Evans GD, Fasching PA, Flanagan JM, Fortner RT, Machackova E, Friedman E, Ganz PA, Garber J, Gensini F, Giles GG, Glendon G, Godwin AK, Goodman MT, Greene MH, Gronwald J, Hahnen E, Haiman CA, Håkansson N, Hamann U, Hansen TVO, Harris HR, Hartman M, Heitz F, Hildebrandt MAT, Høgdall E, Høgdall CK, Hopper JL, Huang RY, Huff C, Hulick PJ, Huntsman DG, Imyanitov EN, Isaacs C, Jakubowska A, James PA, Janavicius R, Jensen A, Johannsson OT, John EM, Jones ME, Kang D, Karlan BY, Karnezis A, Kelemen LE, Khusnutdinova E, Kiemeney LA, Kim BG, Kjaer SK, Komenaka I, Kupryjanczyk J, Kurian AW, Kwong A, Lambrechts D, Larson MC, Lazaro C, Le ND, Leslie G, Lester J, Lesueur F, Levine DA, Li L, Li J, Loud JT, Lu KH, Lubiński J, Mai PL, Manoukian S, Marks JR, Matsuno RK, Matsuo K, May T, McGuffog L, McLaughlin JR, McNeish IA, Mebirouk N, Menon U, Miller A, Milne RL, Minlikeeva A, Modugno F, Montagna M, Moysich KB, Munro E, Nathanson KL, Neuhausen SL, Nevanlinna H, Yie JNY, Nielsen HR, Nielsen FC, Nikitina-Zake L, Odunsi K, Offit K, Olah E, Olbrecht S, Olopade OI, Olson SH, Olsson H, Osorio A, Papi L, Park SK, Parsons MT, Pathak H, Pedersen IS, Peixoto A, Pejovic T, Perez-Segura P, Permuth JB, Peshkin B, Peterlongo P, Piskorz A, Prokofyeva D, Radice P, Rantala J, Riggan MJ, Risch HA, Rodriguez-Antona C, Ross E, Rossing MA, Runnebaum I, Sandler DP, Santamariña M, Soucy P, Schmutzler RK, Setiawan VW, Shan K, Sieh W, Simard J, Singer CF, Sokolenko AP, Song H, Southey MC, Steed H, Stoppa-Lyonnet D, Sutphen R, Swerdlow AJ, Tan YY, Teixeira MR, Teo SH, Terry KL, Terry MB, Thomassen M, Thompson PJ, Thomsen LCV, Thull DL, Tischkowitz M, Titus L, Toland AE, Torres D, Trabert B, Travis R, Tung N, Tworoger SS, Valen E, van Altena AM, van der Hout AH, Van Nieuwenhuysen E, van Rensburg EJ, Vega A, Edwards DV, Vierkant RA, Wang F, Wappenschmidt B, Webb PM, Weinberg CR, Weitzel JN, Wentzensen N, White E, Whittemore AS, Winham SJ, Wolk A, Woo YL, Wu AH, Yan L, Yannoukakos D, Zavaglia KM, Zheng W, Ziogas A, Zorn KK, Kleibl Z, Easton D, Lawrenson K, DeFazio A, Sellers TA, Ramus SJ, Pearce CL, Monteiro AN, Cunningham J, Goode EL, Schildkraut JM, Berchuck A, Chenevix-Trench G, Gayther SA, Antoniou AC, Pharoah PDP. Polygenic risk modeling for prediction of epithelial ovarian cancer risk. Eur J Hum Genet. 2022 Jan 14; doi: 10.1038/s41431-021-00987-7. Epub 2022 Jan 14. PMID: 35027648.
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Re-evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant.

Human mutation

Goldberg Y, Laitman Y, Ben David M, Bazak L, Lidzbarsky G, Salmon LB, Shkedi-Rafid S, Barshack I, Avivi C, Darawshe M, Shomron N, Bruchim R, Vinkler C, Yannoukakos D, Fostira F, Bernstein-Molho R, Friedman E.
PMID: 33600035
Hum Mutat. 2021 May;42(5):592-599. doi: 10.1002/humu.24189. Epub 2021 Mar 03.

BAP1 germline pathogenic sequence variants (PSVs) underlie a unique tumor predisposition syndrome (BAP1-TPDS) associated with an increased lifetime risk for developing primarily pleural and peritoneal mesothelioma and uveal and cutaneous melanoma. Overwhelmingly, BAP1 PSVs are unique, family-specific inactivating variants....

Cite
Goldberg Y, Laitman Y, Ben David M, et al. Re-evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant. Hum Mutat. 2021;42(5):592-599doi: 10.1002/humu.24189.
Goldberg, Y., Laitman, Y., Ben David, M., Bazak, L., Lidzbarsky, G., Salmon, L. B., Shkedi-Rafid, S., Barshack, I., Avivi, C., Darawshe, M., Shomron, N., Bruchim, R., Vinkler, C., Yannoukakos, D., Fostira, F., Bernstein-Molho, R., & Friedman, E. (2021). Re-evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant. Human mutation, 42(5), 592-599. https://doi.org/10.1002/humu.24189
Goldberg, Yael, et al. "Re-evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant." Human mutation vol. 42,5 (2021): 592-599. doi: https://doi.org/10.1002/humu.24189
Goldberg Y, Laitman Y, Ben David M, Bazak L, Lidzbarsky G, Salmon LB, Shkedi-Rafid S, Barshack I, Avivi C, Darawshe M, Shomron N, Bruchim R, Vinkler C, Yannoukakos D, Fostira F, Bernstein-Molho R, Friedman E. Re-evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant. Hum Mutat. 2021 May;42(5):592-599. doi: 10.1002/humu.24189. Epub 2021 Mar 03. PMID: 33600035.
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Re-evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant.

Human mutation

Goldberg Y, Laitman Y, Ben David M, Bazak L, Lidzbarsky G, Salmon LB, Shkedi-Rafid S, Barshack I, Avivi C, Darawshe M, Shomron N, Bruchim R, Vinkler C, Yannoukakos D, Fostira F, Bernstein-Molho R, Friedman E.
PMID: 33600035
Hum Mutat. 2021 May;42(5):592-599. doi: 10.1002/humu.24189. Epub 2021 Mar 03.

BAP1 germline pathogenic sequence variants (PSVs) underlie a unique tumor predisposition syndrome (BAP1-TPDS) associated with an increased lifetime risk for developing primarily pleural and peritoneal mesothelioma and uveal and cutaneous melanoma. Overwhelmingly, BAP1 PSVs are unique, family-specific inactivating variants....

Cite
Goldberg Y, Laitman Y, Ben David M, et al. Re-evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant. Hum Mutat. 2021;42(5):592-599doi: 10.1002/humu.24189.
Goldberg, Y., Laitman, Y., Ben David, M., Bazak, L., Lidzbarsky, G., Salmon, L. B., Shkedi-Rafid, S., Barshack, I., Avivi, C., Darawshe, M., Shomron, N., Bruchim, R., Vinkler, C., Yannoukakos, D., Fostira, F., Bernstein-Molho, R., & Friedman, E. (2021). Re-evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant. Human mutation, 42(5), 592-599. https://doi.org/10.1002/humu.24189
Goldberg, Yael, et al. "Re-evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant." Human mutation vol. 42,5 (2021): 592-599. doi: https://doi.org/10.1002/humu.24189
Goldberg Y, Laitman Y, Ben David M, Bazak L, Lidzbarsky G, Salmon LB, Shkedi-Rafid S, Barshack I, Avivi C, Darawshe M, Shomron N, Bruchim R, Vinkler C, Yannoukakos D, Fostira F, Bernstein-Molho R, Friedman E. Re-evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant. Hum Mutat. 2021 May;42(5):592-599. doi: 10.1002/humu.24189. Epub 2021 Mar 03. PMID: 33600035.
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A Paternally Inherited BRCA1 Mutation Associated with an Unusual Aggressive Clinical Phenotype.

Case reports in genetics

Fostira F, Tsoukalas N, Konstantopoulou I, Georgoulias V, Christophyllakis C, Yannoukakos D.
PMID: 24660075
Case Rep Genet. 2014;2014:875029. doi: 10.1155/2014/875029. Epub 2014 Feb 10.

This report highlights the necessity of genetic testing, at least for BRCA1 mutations, of young females diagnosed with triple negative breast cancer, even in the absence of or limited family history. A 34-year-old female with a locally advanced, triple...

Cite
Fostira F, Tsoukalas N, Konstantopoulou I, et al. A Paternally Inherited BRCA1 Mutation Associated with an Unusual Aggressive Clinical Phenotype. Case Rep Genet. 2014;2014:875029doi: 10.1155/2014/875029.
Fostira, F., Tsoukalas, N., Konstantopoulou, I., Georgoulias, V., Christophyllakis, C., & Yannoukakos, D. (2014). A Paternally Inherited BRCA1 Mutation Associated with an Unusual Aggressive Clinical Phenotype. Case reports in genetics, 2014875029. https://doi.org/10.1155/2014/875029
Fostira, Florentia, et al. "A Paternally Inherited BRCA1 Mutation Associated with an Unusual Aggressive Clinical Phenotype." Case reports in genetics vol. 2014 (2014): 875029. doi: https://doi.org/10.1155/2014/875029
Fostira F, Tsoukalas N, Konstantopoulou I, Georgoulias V, Christophyllakis C, Yannoukakos D. A Paternally Inherited BRCA1 Mutation Associated with an Unusual Aggressive Clinical Phenotype. Case Rep Genet. 2014;2014:875029. doi: 10.1155/2014/875029. Epub 2014 Feb 10. PMID: 24660075; PMCID: PMC3934306.
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The Spectrum of .

Cancers

Figlioli G, Kvist A, Tham E, Soukupova J, Kleiblova P, Muranen TA, Andrieu N, Azzollini J, Balmaña J, Barroso A, Benítez J, Bertelsen B, Blanco A, Bonanni B, Borg Å, Brunet J, Calistri D, Calvello M, Chvojka S, Cortesi L, Darder E, Del Valle J, Diez O, Eon-Marchais S, Fostira F, Gensini F, Houdayer C, Janatova M, Kiiski JI, Konstantopoulou I, Kubelka-Sabit K, Lázaro C, Lesueur F, Manoukian S, Marcinkute R, Mickys U, Moncoutier V, Myszka A, Nguyen-Dumont T, Nielsen FC, Norvilas R, Olah E, Osorio A, Papi L, Peissel B, Peixoto A, Plaseska-Karanfilska D, Pócza T, Rossing M, Rudaitis V, Santamariña M, Santos C, Smichkoska S, Southey MC, Stoppa-Lyonnet D, Teixeira M, Törngren T, Toss A, Urioste M, Vega A, Vlckova Z, Yannoukakos D, Zampiga V, Kleibl Z, Radice P, Nevanlinna H, Ehrencrona H, Janavicius R, Peterlongo P.
PMID: 31991861
Cancers (Basel). 2020 Jan 26;12(2). doi: 10.3390/cancers12020292.

Germline protein truncating variants (PTVs) in the

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Figlioli G, Kvist A, Tham E, et al. The Spectrum of . Cancers (Basel). 2020;12(2)doi: 10.3390/cancers12020292.
Figlioli, G., Kvist, A., Tham, E., Soukupova, J., Kleiblova, P., Muranen, T. A., Andrieu, N., Azzollini, J., Balmaña, J., Barroso, A., Benítez, J., Bertelsen, B., Blanco, A., Bonanni, B., Borg, �. �., Brunet, J., Calistri, D., Calvello, M., Chvojka, S., Cortesi, L., Darder, E., Del Valle, J., Diez, O., Eon-Marchais, S., Fostira, F., Gensini, F., Houdayer, C., Janatova, M., Kiiski, J. I., Konstantopoulou, I., Kubelka-Sabit, K., Lázaro, C., Lesueur, F., Manoukian, S., Marcinkute, R., Mickys, U., Moncoutier, V., Myszka, A., Nguyen-Dumont, T., Nielsen, F. C., Norvilas, R., Olah, E., Osorio, A., Papi, L., Peissel, B., Peixoto, A., Plaseska-Karanfilska, D., Pócza, T., Rossing, M., Rudaitis, V., Santamariña, M., Santos, C., Smichkoska, S., Southey, M. C., Stoppa-Lyonnet, D., Teixeira, M., Törngren, T., Toss, A., Urioste, M., Vega, A., Vlckova, Z., Yannoukakos, D., Zampiga, V., Kleibl, Z., Radice, P., Nevanlinna, H., Ehrencrona, H., Janavicius, R., & Peterlongo, P. (2020). The Spectrum of . Cancers, 12(2), . https://doi.org/10.3390/cancers12020292
Figlioli, Gisella, et al. "The Spectrum of ." Cancers vol. 12,2 (2020). doi: https://doi.org/10.3390/cancers12020292
Figlioli G, Kvist A, Tham E, Soukupova J, Kleiblova P, Muranen TA, Andrieu N, Azzollini J, Balmaña J, Barroso A, Benítez J, Bertelsen B, Blanco A, Bonanni B, Borg Å, Brunet J, Calistri D, Calvello M, Chvojka S, Cortesi L, Darder E, Del Valle J, Diez O, Eon-Marchais S, Fostira F, Gensini F, Houdayer C, Janatova M, Kiiski JI, Konstantopoulou I, Kubelka-Sabit K, Lázaro C, Lesueur F, Manoukian S, Marcinkute R, Mickys U, Moncoutier V, Myszka A, Nguyen-Dumont T, Nielsen FC, Norvilas R, Olah E, Osorio A, Papi L, Peissel B, Peixoto A, Plaseska-Karanfilska D, Pócza T, Rossing M, Rudaitis V, Santamariña M, Santos C, Smichkoska S, Southey MC, Stoppa-Lyonnet D, Teixeira M, Törngren T, Toss A, Urioste M, Vega A, Vlckova Z, Yannoukakos D, Zampiga V, Kleibl Z, Radice P, Nevanlinna H, Ehrencrona H, Janavicius R, Peterlongo P. The Spectrum of . Cancers (Basel). 2020 Jan 26;12(2). doi: 10.3390/cancers12020292. PMID: 31991861; PMCID: PMC7073216.
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