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37 results on '"Moghadasi, Setareh"'

1. DLG4-related synaptopathy: a new rare brain disorder

Author: Rodríguez-Palmero, Agustí, Boerrigter, Melissa Maria, Gómez-Andrés, David, Aldinger, Kimberly A., Marcos-Alcalde, Íñigo, Popp, Bernt, Everman, David B., Lovgren, Alysia Kern, Arpin, Stephanie, Bahrambeigi, Vahid, Beunders, Gea, Bisgaard, Anne-Marie, Bjerregaard, V.A., Bruel, Ange-Line, Challman, Thomas D., Cogné, Benjamin, Coubes, Christine, de Man, Stella A., Denommé-Pichon, Anne-Sophie, Dye, Thomas J., Elmslie, Frances, Feuk, Lars, García-Miñaúr, Sixto, Gertler, Tracy, Giorgio, Elisa, Gruchy, Nicolas, Haack, Tobias B., Haldeman-Englert, Chad R., Haukanes, Bjørn Ivar, Hoyer, Juliane, Hurst, Anna C.E., Isidor, Bertrand, Soller, Maria Johansson, Kushary, Sulagna, Kvarnung, Malin, Landau, Yuval E., Leppig, Kathleen A., Lindstrand, Anna, Kleinendorst, Lotte, MacKenzie, Alex, Mandrile, Giorgia, Mendelsohn, Bryce A., Moghadasi, Setareh, Morton, Jenny E., Moutton, Sebastien, Müller, Amelie J., O’Leary, Melanie, Pacio-Míguez, Marta, Palomares-Bralo, Maria, Parikh, Sumit, Pfundt, Rolph, Pode-Shakked, Ben, Rauch, Anita, Repnikova, Elena, Revah-Politi, Anya, Ross, Meredith J., Ruivenkamp, Claudia A.L., Sarrazin, Elisabeth, Savatt, Juliann M., Schlüter, Agatha, Schönewolf-Greulich, Bitten, Shad, Zohra, Shaw-Smith, Charles, Shieh, Joseph T., Shohat, Motti, Spranger, Stephanie, Thiese, Heidi, Mau-Them, Frederic Tran, van Bon, Bregje, van de Burgt, Ineke, van de Laar, Ingrid M.B.H., van Drie, Esmée, van Haelst, Mieke M., van Ravenswaaij-Arts, Conny M., Verdura, Edgard, Vitobello, Antonio, Waldmüller, Stephan, Whiting, Sharon, Zweier, Christiane, Prada, Carlos E., de Vries, Bert B.A., Dobyns, William B., Reiter, Simone F., Gómez-Puertas, Paulino, Pujol, Aurora, and Tümer, Zeynep
Published: 2021
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2. Putting genome-wide sequencing in neonates into perspective

Author: van der Sluijs, Pleuntje J., Aten, Emmelien, Barge-Schaapveld, Daniela Q.C.M., Bijlsma, Emilia K., Bökenkamp-Gramann, Regina, Donker Kaat, Laura, van Doorn, Remco, van de Putte, Dietje Fransen, van Haeringen, Arie, ten Harkel, Arend D.J., Hilhorst-Hofstee, Yvonne, Hoffer, Mariette J.V., den Hollander, Nicolette S., van Ierland, Yvette, Koopmans, Marije, Kriek, Marjolein, Moghadasi, Setareh, Nibbeling, Esther A.R., Peeters-Scholte, Cacha M.P.C.D., Potjer, Thomas P., van Rij, Maartje, Ruivenkamp, Claudia A.L., Rutten, Julie W., Steggerda, Sylke J., Suerink, Manon, Tan, Ratna N.G.B., van der Tuin, Karin, Visser, Remco, van der Werf -'t Lam, Anne-Sophie, Williams, Monique, Witlox, Ruben, and Santen, Gijs W.E.
Published: 2019
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3. Correction: Putting genome-wide sequencing in neonates into perspective

Author: van der Sluijs, Pleuntje J., Aten, Emmelien, Barge-Schaapveld, Daniela Q. C. M., Bijlsma, Emilia K., Bökenkamp-Gramann, Regina, Kaat, Laura Donker, van Doorn, Remco, van de Putte, Dietje Fransen, van Haeringen, Arie, ten Harkel, Arend D. J., Hilhorst-Hofstee, Yvonne, Hoffer, Mariette J. V., den Hollander, Nicolette S., van Ierland, Yvette, Koopmans, Marije, Kriek, Marjolein, Moghadasi, Setareh, Nibbeling, Esther A. R., Peeters-Scholte, Cacha M. P. C. D., Potjer, Thomas P., van Rij, Maartje, Ruivenkamp, Claudia A. L., Rutten, Julie W., Steggerda, Sylke J., Suerink, Manon, Tan, Ratna N. G. B., van der Tuin, Karin, Visser, Remco, van der Werf –’t Lam, Anne-Sophie, Williams, Monique, Witlox, Ruben, and Santen, Gijs W. E.
Published: 2019
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4. Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val)

Author: Tudini, Emma, Moghadasi, Setareh, Parsons, Michael T., van der Kolk, Lizet, van den Ouweland, Ans M. W., Niederacher, Dieter, Feliubadaló, Lídia, Wappenschmidt, Barbara, Spurdle, Amanda B., and Lazaro, Conxi
Published: 2018
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5. Supplementary Tables and References from BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

Author: Shimelis, Hermela, primary, Mesman, Romy L.S., primary, Von Nicolai, Catharina, primary, Ehlen, Asa, primary, Guidugli, Lucia, primary, Martin, Charlotte, primary, Calléja, Fabienne M.G.R., primary, Meeks, Huong, primary, Hallberg, Emily, primary, Hinton, Jamie, primary, Lilyquist, Jenna, primary, Hu, Chunling, primary, Aalfs, Cora M., primary, Aittomäki, Kristiina, primary, Andrulis, Irene, primary, Anton-Culver, Hoda, primary, Arndt, Volker, primary, Beckmann, Matthias W., primary, Benitez, Javier, primary, Bogdanova, Natalia V., primary, Bojesen, Stig E., primary, Bolla, Manjeet K., primary, Borresen-Dale, Anne-Lise, primary, Brauch, Hiltrud, primary, Brennan, Paul, primary, Brenner, Hermann, primary, Broeks, Annegien, primary, Brouwers, Barbara, primary, Brüning, Thomas, primary, Burwinkel, Barbara, primary, Chang-Claude, Jenny, primary, Chenevix-Trench, Georgia, primary, Cheng, Ching-Yu, primary, Choi, Ji-Yeob, primary, Collée, J. Margriet, primary, Cox, Angela, primary, Cross, Simon S., primary, Czene, Kamila, primary, Darabi, Hatef, primary, Dennis, Joe, primary, Dörk, Thilo, primary, dos-Santos-Silva, Isabel, primary, Dunning, Alison M., primary, Fasching, Peter A., primary, Figueroa, Jonine, primary, Flyger, Henrik, primary, García-Closas, Montserrat, primary, Giles, Graham G., primary, Glendon, Gord, primary, Guénel, Pascal, primary, Haiman, Christopher A., primary, Hall, Per, primary, Hamann, Ute, primary, Hartman, Mikael, primary, Hogervorst, Frans B., primary, Hollestelle, Antoinette, primary, Hopper, John L., primary, Ito, Hidemi, primary, Jakubowska, Anna, primary, Kang, Daehee, primary, Kosma, Veli-Matti, primary, Kristensen, Vessela, primary, Lai, Kah-Nyin, primary, Lambrechts, Diether, primary, Marchand, Loic Le, primary, Li, Jingmei, primary, Lindblom, Annika, primary, Lophatananon, Artitaya, primary, Lubinski, Jan, primary, Machackova, Eva, primary, Mannermaa, Arto, primary, Margolin, Sara, primary, Marme, Frederik, primary, Matsuo, Keitaro, primary, Miao, Hui, primary, Michailidou, Kyriaki, primary, Milne, Roger L., primary, Muir, Kenneth, primary, Neuhausen, Susan L., primary, Nevanlinna, Heli, primary, Olson, Janet E., primary, Olswold, Curtis, primary, Oosterwijk, Jan J.C., primary, Osorio, Ana, primary, Peterlongo, Paolo, primary, Peto, Julian, primary, Pharoah, Paul D.P., primary, Pylkäs, Katri, primary, Radice, Paolo, primary, Rashid, Muhammad Usman, primary, Rhenius, Valerie, primary, Rudolph, Anja, primary, Sangrajrang, Suleeporn, primary, Sawyer, Elinor J., primary, Schmidt, Marjanka K., primary, Schoemaker, Minouk J., primary, Seynaeve, Caroline, primary, Shah, Mitul, primary, Shen, Chen-Yang, primary, Shrubsole, Martha, primary, Shu, Xiao-Ou, primary, Slager, Susan, primary, Southey, Melissa C., primary, Stram, Daniel O., primary, Swerdlow, Anthony, primary, Teo, Soo H., primary, Tomlinson, Ian, primary, Torres, Diana, primary, Truong, Thérèse, primary, van Asperen, Christi J., primary, van der Kolk, Lizet E., primary, Wang, Qin, primary, Winqvist, Robert, primary, Wu, Anna H., primary, Yu, Jyh-Cherng, primary, Zheng, Wei, primary, Zheng, Ying, primary, Leary, Jennifer, primary, Walker, Logan, primary, Foretova, Lenka, primary, Fostira, Florentia, primary, Claes, Kathleen B.M., primary, Varesco, Liliana, primary, Moghadasi, Setareh, primary, Easton, Douglas F., primary, Spurdle, Amanda, primary, Devilee, Peter, primary, Vrieling, Harry, primary, Monteiro, Alvaro N.A., primary, Goldgar, David E., primary, Carreira, Aura, primary, Vreeswijk, Maaike P.G., primary, and Couch, Fergus J., primary
Published: 2023
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6. Supplementary Data from Functional Categorization of BRCA1 Variants of Uncertain Clinical Significance in Homologous Recombination Repair Complementation Assays

Author: Bouwman, Peter, primary, van der Heijden, Ingrid, primary, van der Gulden, Hanneke, primary, de Bruijn, Roebi, primary, Braspenning, Merel E., primary, Moghadasi, Setareh, primary, Wessels, Lodewyk F.A., primary, Vreeswijk, Maaike P.G., primary, and Jonkers, Jos, primary
Published: 2023
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7. Data from BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

Author: Shimelis, Hermela, primary, Mesman, Romy L.S., primary, Von Nicolai, Catharina, primary, Ehlen, Asa, primary, Guidugli, Lucia, primary, Martin, Charlotte, primary, Calléja, Fabienne M.G.R., primary, Meeks, Huong, primary, Hallberg, Emily, primary, Hinton, Jamie, primary, Lilyquist, Jenna, primary, Hu, Chunling, primary, Aalfs, Cora M., primary, Aittomäki, Kristiina, primary, Andrulis, Irene, primary, Anton-Culver, Hoda, primary, Arndt, Volker, primary, Beckmann, Matthias W., primary, Benitez, Javier, primary, Bogdanova, Natalia V., primary, Bojesen, Stig E., primary, Bolla, Manjeet K., primary, Borresen-Dale, Anne-Lise, primary, Brauch, Hiltrud, primary, Brennan, Paul, primary, Brenner, Hermann, primary, Broeks, Annegien, primary, Brouwers, Barbara, primary, Brüning, Thomas, primary, Burwinkel, Barbara, primary, Chang-Claude, Jenny, primary, Chenevix-Trench, Georgia, primary, Cheng, Ching-Yu, primary, Choi, Ji-Yeob, primary, Collée, J. Margriet, primary, Cox, Angela, primary, Cross, Simon S., primary, Czene, Kamila, primary, Darabi, Hatef, primary, Dennis, Joe, primary, Dörk, Thilo, primary, dos-Santos-Silva, Isabel, primary, Dunning, Alison M., primary, Fasching, Peter A., primary, Figueroa, Jonine, primary, Flyger, Henrik, primary, García-Closas, Montserrat, primary, Giles, Graham G., primary, Glendon, Gord, primary, Guénel, Pascal, primary, Haiman, Christopher A., primary, Hall, Per, primary, Hamann, Ute, primary, Hartman, Mikael, primary, Hogervorst, Frans B., primary, Hollestelle, Antoinette, primary, Hopper, John L., primary, Ito, Hidemi, primary, Jakubowska, Anna, primary, Kang, Daehee, primary, Kosma, Veli-Matti, primary, Kristensen, Vessela, primary, Lai, Kah-Nyin, primary, Lambrechts, Diether, primary, Marchand, Loic Le, primary, Li, Jingmei, primary, Lindblom, Annika, primary, Lophatananon, Artitaya, primary, Lubinski, Jan, primary, Machackova, Eva, primary, Mannermaa, Arto, primary, Margolin, Sara, primary, Marme, Frederik, primary, Matsuo, Keitaro, primary, Miao, Hui, primary, Michailidou, Kyriaki, primary, Milne, Roger L., primary, Muir, Kenneth, primary, Neuhausen, Susan L., primary, Nevanlinna, Heli, primary, Olson, Janet E., primary, Olswold, Curtis, primary, Oosterwijk, Jan J.C., primary, Osorio, Ana, primary, Peterlongo, Paolo, primary, Peto, Julian, primary, Pharoah, Paul D.P., primary, Pylkäs, Katri, primary, Radice, Paolo, primary, Rashid, Muhammad Usman, primary, Rhenius, Valerie, primary, Rudolph, Anja, primary, Sangrajrang, Suleeporn, primary, Sawyer, Elinor J., primary, Schmidt, Marjanka K., primary, Schoemaker, Minouk J., primary, Seynaeve, Caroline, primary, Shah, Mitul, primary, Shen, Chen-Yang, primary, Shrubsole, Martha, primary, Shu, Xiao-Ou, primary, Slager, Susan, primary, Southey, Melissa C., primary, Stram, Daniel O., primary, Swerdlow, Anthony, primary, Teo, Soo H., primary, Tomlinson, Ian, primary, Torres, Diana, primary, Truong, Thérèse, primary, van Asperen, Christi J., primary, van der Kolk, Lizet E., primary, Wang, Qin, primary, Winqvist, Robert, primary, Wu, Anna H., primary, Yu, Jyh-Cherng, primary, Zheng, Wei, primary, Zheng, Ying, primary, Leary, Jennifer, primary, Walker, Logan, primary, Foretova, Lenka, primary, Fostira, Florentia, primary, Claes, Kathleen B.M., primary, Varesco, Liliana, primary, Moghadasi, Setareh, primary, Easton, Douglas F., primary, Spurdle, Amanda, primary, Devilee, Peter, primary, Vrieling, Harry, primary, Monteiro, Alvaro N.A., primary, Goldgar, David E., primary, Carreira, Aura, primary, Vreeswijk, Maaike P.G., primary, and Couch, Fergus J., primary
Published: 2023
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8. Supplementary Figures from BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

Author: Shimelis, Hermela, primary, Mesman, Romy L.S., primary, Von Nicolai, Catharina, primary, Ehlen, Asa, primary, Guidugli, Lucia, primary, Martin, Charlotte, primary, Calléja, Fabienne M.G.R., primary, Meeks, Huong, primary, Hallberg, Emily, primary, Hinton, Jamie, primary, Lilyquist, Jenna, primary, Hu, Chunling, primary, Aalfs, Cora M., primary, Aittomäki, Kristiina, primary, Andrulis, Irene, primary, Anton-Culver, Hoda, primary, Arndt, Volker, primary, Beckmann, Matthias W., primary, Benitez, Javier, primary, Bogdanova, Natalia V., primary, Bojesen, Stig E., primary, Bolla, Manjeet K., primary, Borresen-Dale, Anne-Lise, primary, Brauch, Hiltrud, primary, Brennan, Paul, primary, Brenner, Hermann, primary, Broeks, Annegien, primary, Brouwers, Barbara, primary, Brüning, Thomas, primary, Burwinkel, Barbara, primary, Chang-Claude, Jenny, primary, Chenevix-Trench, Georgia, primary, Cheng, Ching-Yu, primary, Choi, Ji-Yeob, primary, Collée, J. Margriet, primary, Cox, Angela, primary, Cross, Simon S., primary, Czene, Kamila, primary, Darabi, Hatef, primary, Dennis, Joe, primary, Dörk, Thilo, primary, dos-Santos-Silva, Isabel, primary, Dunning, Alison M., primary, Fasching, Peter A., primary, Figueroa, Jonine, primary, Flyger, Henrik, primary, García-Closas, Montserrat, primary, Giles, Graham G., primary, Glendon, Gord, primary, Guénel, Pascal, primary, Haiman, Christopher A., primary, Hall, Per, primary, Hamann, Ute, primary, Hartman, Mikael, primary, Hogervorst, Frans B., primary, Hollestelle, Antoinette, primary, Hopper, John L., primary, Ito, Hidemi, primary, Jakubowska, Anna, primary, Kang, Daehee, primary, Kosma, Veli-Matti, primary, Kristensen, Vessela, primary, Lai, Kah-Nyin, primary, Lambrechts, Diether, primary, Marchand, Loic Le, primary, Li, Jingmei, primary, Lindblom, Annika, primary, Lophatananon, Artitaya, primary, Lubinski, Jan, primary, Machackova, Eva, primary, Mannermaa, Arto, primary, Margolin, Sara, primary, Marme, Frederik, primary, Matsuo, Keitaro, primary, Miao, Hui, primary, Michailidou, Kyriaki, primary, Milne, Roger L., primary, Muir, Kenneth, primary, Neuhausen, Susan L., primary, Nevanlinna, Heli, primary, Olson, Janet E., primary, Olswold, Curtis, primary, Oosterwijk, Jan J.C., primary, Osorio, Ana, primary, Peterlongo, Paolo, primary, Peto, Julian, primary, Pharoah, Paul D.P., primary, Pylkäs, Katri, primary, Radice, Paolo, primary, Rashid, Muhammad Usman, primary, Rhenius, Valerie, primary, Rudolph, Anja, primary, Sangrajrang, Suleeporn, primary, Sawyer, Elinor J., primary, Schmidt, Marjanka K., primary, Schoemaker, Minouk J., primary, Seynaeve, Caroline, primary, Shah, Mitul, primary, Shen, Chen-Yang, primary, Shrubsole, Martha, primary, Shu, Xiao-Ou, primary, Slager, Susan, primary, Southey, Melissa C., primary, Stram, Daniel O., primary, Swerdlow, Anthony, primary, Teo, Soo H., primary, Tomlinson, Ian, primary, Torres, Diana, primary, Truong, Thérèse, primary, van Asperen, Christi J., primary, van der Kolk, Lizet E., primary, Wang, Qin, primary, Winqvist, Robert, primary, Wu, Anna H., primary, Yu, Jyh-Cherng, primary, Zheng, Wei, primary, Zheng, Ying, primary, Leary, Jennifer, primary, Walker, Logan, primary, Foretova, Lenka, primary, Fostira, Florentia, primary, Claes, Kathleen B.M., primary, Varesco, Liliana, primary, Moghadasi, Setareh, primary, Easton, Douglas F., primary, Spurdle, Amanda, primary, Devilee, Peter, primary, Vrieling, Harry, primary, Monteiro, Alvaro N.A., primary, Goldgar, David E., primary, Carreira, Aura, primary, Vreeswijk, Maaike P.G., primary, and Couch, Fergus J., primary
Published: 2023
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9. The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

Author: Moghadasi, Setareh, Meeks, Huong D, Vreeswijk, Maaike PG, Janssen, Linda AM, Borg, Åke, Ehrencrona, Hans, Paulsson-Karlsson, Ylva, Wappenschmidt, Barbara, Engel, Christoph, Gehrig, Andrea, Arnold, Norbert, Hansen, Thomas Van Overeem, Thomassen, Mads, Jensen, Uffe Birk, Kruse, Torben A, Ejlertsen, Bent, Gerdes, Anne-Marie, Pedersen, Inge Søkilde, Caputo, Sandrine M, Couch, Fergus, Hallberg, Emily J, van den Ouweland, Ans MW, Collée, Margriet J, Teugels, Erik, Adank, Muriel A, van der Luijt, Rob B, Mensenkamp, Arjen R, Oosterwijk, Jan C, Blok, Marinus J, Janin, Nicolas, Claes, Kathleen BM, Tucker, Kathy, Viassolo, Valeria, Toland, Amanda Ewart, Eccles, Diana E, Devilee, Peter, Van Asperen, Christie J, Spurdle, Amanda B, Goldgar, David E, and García, Encarna Gómez
Published: 2018
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10. Neurofibromas in LZTR1 schwannomatosis

Author: Groen, Justus L., primary, Moghadasi, Setareh, additional, Spruijt, Liesbeth, additional, Korpershoek, Esther, additional, Ierland, Yvette, additional, Wezel, J. Tom, additional, Duinen, Sjoerd, additional, Malessy, Martijn J. A., additional, and Lesnik Oberstein, Saskia A.J., additional
Published: 2022
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11. Classification and Clinical Management of Variants of Uncertain Significance in High Penetrance Cancer Predisposition Genes

Author: Moghadasi, Setareh, Eccles, Diana M., Devilee, Peter, Vreeswijk, Maaike P.G., and van Asperen, Christi J.
Published: 2016
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12. Case series, chemotherapy-induced cardiomyopathy: mind the family history!

Author: Moghadasi, Setareh, primary, Fijn, Rienke, additional, Beeres, Saskia L M A, additional, Bikker, Hennie, additional, Jongbloed, Jan D H, additional, Josephus Jitta, Djike, additional, Kroep, Judith R, additional, Lekanne Deprez, Ronald H, additional, Vos, Yvonne J, additional, de Vreede, Mariëlle J M, additional, Antoni, M Louisa, additional, and Barge-Schaapveld, Daniela Q C M, additional
Published: 2021
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13. A terminal 3p26.3 deletion is not associated with dysmorphic features and intellectual disability in a four-generation family

Author: Moghadasi, Setareh, van Haeringen, Arie, Langendonck, Lieke, Gijsbers, Antoinet C. J., and Ruivenkamp, Claudia A. L.
Published: 2014
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14. DLG4-related synaptopathy:a new rare brain disorder

Author: Rodríguez-Palmero, Agustí, Boerrigter, Melissa Maria, Gómez-Andrés, David, Aldinger, Kimberly A., Marcos-Alcalde, Íñigo, Popp, Bernt, Everman, David B., Lovgren, Alysia Kern, Arpin, Stephanie, Bahrambeigi, Vahid, Beunders, Gea, Bisgaard, Anne Marie, Bjerregaard, V. A., Bruel, Ange Line, Challman, Thomas D., Cogné, Benjamin, Coubes, Christine, de Man, Stella A., Denommé-Pichon, Anne Sophie, Dye, Thomas J., Elmslie, Frances, Feuk, Lars, García-Miñaúr, Sixto, Gertler, Tracy, Giorgio, Elisa, Gruchy, Nicolas, Haack, Tobias B., Haldeman-Englert, Chad R., Haukanes, Bjørn Ivar, Hoyer, Juliane, Hurst, Anna C.E., Isidor, Bertrand, Soller, Maria Johansson, Kushary, Sulagna, Kvarnung, Malin, Landau, Yuval E., Leppig, Kathleen A., Lindstrand, Anna, Kleinendorst, Lotte, MacKenzie, Alex, Mandrile, Giorgia, Mendelsohn, Bryce A., Moghadasi, Setareh, Morton, Jenny E., Moutton, Sebastien, Müller, Amelie J., O’Leary, Melanie, Pacio-Míguez, Marta, Palomares-Bralo, Maria, Parikh, Sumit, Pfundt, Rolph, Pode-Shakked, Ben, Rauch, Anita, Repnikova, Elena, Revah-Politi, Anya, Ross, Meredith J., Ruivenkamp, Claudia A.L., Sarrazin, Elisabeth, Savatt, Juliann M., Schlüter, Agatha, Schönewolf-Greulich, Bitten, Shad, Zohra, Shaw-Smith, Charles, Shieh, Joseph T., Shohat, Motti, Spranger, Stephanie, Thiese, Heidi, Mau-Them, Frederic Tran, van Bon, Bregje, van de Burgt, Ineke, van de Laar, Ingrid M.B.H., van Drie, Esmée, van Haelst, Mieke M., van Ravenswaaij-Arts, Conny M., Verdura, Edgard, Vitobello, Antonio, Waldmüller, Stephan, Whiting, Sharon, Zweier, Christiane, Prada, Carlos E., de Vries, Bert B.A., Dobyns, William B., Reiter, Simone F., Gómez-Puertas, Paulino, Pujol, Aurora, Tümer, Zeynep, Rodríguez-Palmero, Agustí, Boerrigter, Melissa Maria, Gómez-Andrés, David, Aldinger, Kimberly A., Marcos-Alcalde, Íñigo, Popp, Bernt, Everman, David B., Lovgren, Alysia Kern, Arpin, Stephanie, Bahrambeigi, Vahid, Beunders, Gea, Bisgaard, Anne Marie, Bjerregaard, V. A., Bruel, Ange Line, Challman, Thomas D., Cogné, Benjamin, Coubes, Christine, de Man, Stella A., Denommé-Pichon, Anne Sophie, Dye, Thomas J., Elmslie, Frances, Feuk, Lars, García-Miñaúr, Sixto, Gertler, Tracy, Giorgio, Elisa, Gruchy, Nicolas, Haack, Tobias B., Haldeman-Englert, Chad R., Haukanes, Bjørn Ivar, Hoyer, Juliane, Hurst, Anna C.E., Isidor, Bertrand, Soller, Maria Johansson, Kushary, Sulagna, Kvarnung, Malin, Landau, Yuval E., Leppig, Kathleen A., Lindstrand, Anna, Kleinendorst, Lotte, MacKenzie, Alex, Mandrile, Giorgia, Mendelsohn, Bryce A., Moghadasi, Setareh, Morton, Jenny E., Moutton, Sebastien, Müller, Amelie J., O’Leary, Melanie, Pacio-Míguez, Marta, Palomares-Bralo, Maria, Parikh, Sumit, Pfundt, Rolph, Pode-Shakked, Ben, Rauch, Anita, Repnikova, Elena, Revah-Politi, Anya, Ross, Meredith J., Ruivenkamp, Claudia A.L., Sarrazin, Elisabeth, Savatt, Juliann M., Schlüter, Agatha, Schönewolf-Greulich, Bitten, Shad, Zohra, Shaw-Smith, Charles, Shieh, Joseph T., Shohat, Motti, Spranger, Stephanie, Thiese, Heidi, Mau-Them, Frederic Tran, van Bon, Bregje, van de Burgt, Ineke, van de Laar, Ingrid M.B.H., van Drie, Esmée, van Haelst, Mieke M., van Ravenswaaij-Arts, Conny M., Verdura, Edgard, Vitobello, Antonio, Waldmüller, Stephan, Whiting, Sharon, Zweier, Christiane, Prada, Carlos E., de Vries, Bert B.A., Dobyns, William B., Reiter, Simone F., Gómez-Puertas, Paulino, Pujol, Aurora, and Tümer, Zeynep
Abstract: Purpose: Postsynaptic density protein-95 (PSD-95), encoded by DLG4, regulates excitatory synaptic function in the brain. Here we present the clinical and genetic features of 53 patients (42 previously unpublished) with DLG4 variants. Methods: The clinical and genetic information were collected through GeneMatcher collaboration. All the individuals were investigated by local clinicians and the gene variants were identified by clinical exome/genome sequencing. Results: The clinical picture was predominated by early onset global developmental delay, intellectual disability, autism spectrum disorder, and attention deficit–hyperactivity disorder, all of which point to a brain disorder. Marfanoid habitus, which was previously suggested to be a characteristic feature of DLG4-related phenotypes, was found in only nine individuals and despite some overlapping features, a distinct facial dysmorphism could not be established. Of the 45 different DLG4 variants, 39 were predicted to lead to loss of protein function and the majority occurred de novo (four with unknown origin). The six missense variants identified were suggested to lead to structural or functional changes by protein modeling studies. Conclusion: The present study shows that clinical manifestations associated with DLG4 overlap with those found in other neurodevelopmental disorders of synaptic dysfunction; thus, we designate this group of disorders as DLG4-related synaptopathy. [Figure not available: see fulltext.]
Published: 2021

15. Variants of Uncertain Significance in BRCA1 and BRCA2 assessment of in silico analysis and a proposal for communication in genetic counselling

Author: Moghadasi, Setareh, Hofland, Nandy, Wouts, Joyce N, Hogervorst, Frans B L, Wijnen, Juul T, Vreeswijk, Maaike P G, and van Asperen, Christi J
Published: 2013
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16. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Author: Parsons, Michael T., primary, Tudini, Emma, additional, Li, Hongyan, additional, Hahnen, Eric, additional, Wappenschmidt, Barbara, additional, Feliubadaló, Lidia, additional, Aalfs, Cora M., additional, Agata, Simona, additional, Aittomäki, Kristiina, additional, Alducci, Elisa, additional, Alonso‐Cerezo, María Concepción, additional, Arnold, Norbert, additional, Auber, Bernd, additional, Austin, Rachel, additional, Azzollini, Jacopo, additional, Balmaña, Judith, additional, Barbieri, Elena, additional, Bartram, Claus R., additional, Blanco, Ana, additional, Blümcke, Britta, additional, Bonache, Sandra, additional, Bonanni, Bernardo, additional, Borg, Åke, additional, Bortesi, Beatrice, additional, Brunet, Joan, additional, Bruzzone, Carla, additional, Bucksch, Karolin, additional, Cagnoli, Giulia, additional, Caldés, Trinidad, additional, Caliebe, Almuth, additional, Caligo, Maria A., additional, Calvello, Mariarosaria, additional, Capone, Gabriele L., additional, Caputo, Sandrine M., additional, Carnevali, Ileana, additional, Carrasco, Estela, additional, Caux‐Moncoutier, Virginie, additional, Cavalli, Pietro, additional, Cini, Giulia, additional, Clarke, Edward M., additional, Concolino, Paola, additional, Cops, Elisa J., additional, Cortesi, Laura, additional, Couch, Fergus J., additional, Darder, Esther, additional, Hoya, Miguel, additional, Dean, Michael, additional, Debatin, Irmgard, additional, Del Valle, Jesús, additional, Delnatte, Capucine, additional, Derive, Nicolas, additional, Diez, Orland, additional, Ditsch, Nina, additional, Domchek, Susan M., additional, Dutrannoy, Véronique, additional, Eccles, Diana M., additional, Ehrencrona, Hans, additional, Enders, Ute, additional, Evans, D. Gareth, additional, Farra, Chantal, additional, Faust, Ulrike, additional, Felbor, Ute, additional, Feroce, Irene, additional, Fine, Miriam, additional, Foulkes, William D., additional, Galvao, Henrique C.R., additional, Gambino, Gaetana, additional, Gehrig, Andrea, additional, Gensini, Francesca, additional, Gerdes, Anne‐Marie, additional, Germani, Aldo, additional, Giesecke, Jutta, additional, Gismondi, Viviana, additional, Gómez, Carolina, additional, Garcia, Encarna B., additional, González, Sara, additional, Grau, Elia, additional, Grill, Sabine, additional, Gross, Eva, additional, Guerrieri‐Gonzaga, Aliana, additional, Guillaud‐Bataille, Marine, additional, Gutiérrez‐Enríquez, Sara, additional, Haaf, Thomas, additional, Hackmann, Karl, additional, Hansen, Thomas V.O., additional, Harris, Marion, additional, Hauke, Jan, additional, Heinrich, Tilman, additional, Hellebrand, Heide, additional, Herold, Karen N., additional, Honisch, Ellen, additional, Horvath, Judit, additional, Houdayer, Claude, additional, Hübbel, Verena, additional, Iglesias, Silvia, additional, Izquierdo, Angel, additional, James, Paul A., additional, Janssen, Linda A.M., additional, Jeschke, Udo, additional, Kaulfuß, Silke, additional, Keupp, Katharina, additional, Kiechle, Marion, additional, Kölbl, Alexandra, additional, Krieger, Sophie, additional, Kruse, Torben A., additional, Kvist, Anders, additional, Lalloo, Fiona, additional, Larsen, Mirjam, additional, Lattimore, Vanessa L., additional, Lautrup, Charlotte, additional, Ledig, Susanne, additional, Leinert, Elena, additional, Lewis, Alexandra L., additional, Lim, Joanna, additional, Loeffler, Markus, additional, López‐Fernández, Adrià, additional, Lucci‐Cordisco, Emanuela, additional, Maass, Nicolai, additional, Manoukian, Siranoush, additional, Marabelli, Monica, additional, Matricardi, Laura, additional, Meindl, Alfons, additional, Michelli, Rodrigo D., additional, Moghadasi, Setareh, additional, Moles‐Fernández, Alejandro, additional, Montagna, Marco, additional, Montalban, Gemma, additional, Monteiro, Alvaro N., additional, Montes, Eva, additional, Mori, Luigi, additional, Moserle, Lidia, additional, Müller, Clemens R., additional, Mundhenke, Christoph, additional, Naldi, Nadia, additional, Nathanson, Katherine L., additional, Navarro, Matilde, additional, Nevanlinna, Heli, additional, Nichols, Cassandra B., additional, Niederacher, Dieter, additional, Nielsen, Henriette R., additional, Ong, Kai‐ren, additional, Pachter, Nicholas, additional, Palmero, Edenir I., additional, Papi, Laura, additional, Pedersen, Inge Sokilde, additional, Peissel, Bernard, additional, Perez‐Segura, Pedro, additional, Pfeifer, Katharina, additional, Pineda, Marta, additional, Pohl‐Rescigno, Esther, additional, Poplawski, Nicola K., additional, Porfirio, Berardino, additional, Quante, Anne S., additional, Ramser, Juliane, additional, Reis, Rui M., additional, Revillion, Françoise, additional, Rhiem, Kerstin, additional, Riboli, Barbara, additional, Ritter, Julia, additional, Rivera, Daniela, additional, Rofes, Paula, additional, Rump, Andreas, additional, Salinas, Monica, additional, Sánchez de Abajo, Ana María, additional, Schmidt, Gunnar, additional, Schoenwiese, Ulrike, additional, Seggewiß, Jochen, additional, Solanes, Ares, additional, Steinemann, Doris, additional, Stiller, Mathias, additional, Stoppa‐Lyonnet, Dominique, additional, Sullivan, Kelly J., additional, Susman, Rachel, additional, Sutter, Christian, additional, Tavtigian, Sean V., additional, Teo, Soo H., additional, Teulé, Alex, additional, Thomassen, Mads, additional, Tibiletti, Maria Grazia, additional, Tischkowitz, Marc, additional, Tognazzo, Silvia, additional, Toland, Amanda E., additional, Tornero, Eva, additional, Törngren, Therese, additional, Torres‐Esquius, Sara, additional, Toss, Angela, additional, Trainer, Alison H., additional, Tucker, Katherine M., additional, Asperen, Christi J., additional, Mackelenbergh, Marion T., additional, Varesco, Liliana, additional, Vargas‐Parra, Gardenia, additional, Varon, Raymonda, additional, Vega, Ana, additional, Velasco, Ángela, additional, Vesper, Anne‐Sophie, additional, Viel, Alessandra, additional, Vreeswijk, Maaike P. G., additional, Wagner, Sebastian A., additional, Waha, Anke, additional, Walker, Logan C., additional, Walters, Rhiannon J., additional, Wang‐Gohrke, Shan, additional, Weber, Bernhard H. F., additional, Weichert, Wilko, additional, Wieland, Kerstin, additional, Wiesmüller, Lisa, additional, Witzel, Isabell, additional, Wöckel, Achim, additional, Woodward, Emma R., additional, Zachariae, Silke, additional, Zampiga, Valentina, additional, Zeder‐Göß, Christine, additional, Investigators, KConFab, additional, Lázaro, Conxi, additional, Nicolo, Arcangela, additional, Radice, Paolo, additional, Engel, Christoph, additional, Schmutzler, Rita K., additional, Goldgar, David E., additional, and Spurdle, Amanda B., additional
Published: 2019
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17. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

Author: Parsons, Michael T., Tudini, Emma, Li, Hongyan, Hahnen, Eric, Wappenschmidt, Barbara, Feliubadalo, Lidia, Aalfs, Cora M., Agata, Simona, Aittomaki, Kristiina, Alducci, Elisa, Concepcion Alonso-Cerezo, Maria, Arnold, Norbert, Auber, Bernd, Austin, Rachel, Azzollini, Jacopo, Balmana, Judith, Barbieri, Elena, Bartram, Claus R., Blanco, Ana, Bluemcke, Britta, Bonache, Sandra, Bonanni, Bernardo, Borg, Ake, Bortesi, Beatrice, Brunet, Joan, Bruzzone, Carla, Bucksch, Karolin, Cagnoli, Giulia, Caldes, Trinidad, Caliebe, Almuth, Caligo, Maria A., Calvello, Mariarosaria, Capone, Gabriele L., Caputo, Sandrine M., Carnevali, Ileana, Carrasco, Estela, Caux-Moncoutier, Virginie, Cavalli, Pietro, Cini, Giulia, Clarke, Edward M., Concolino, Paola, Cops, Elisa J., Cortesi, Laura, Couch, Fergus J., Darder, Esther, de la Hoya, Miguel, Dean, Michael, Debatin, Irmgard, Del Valle, Jesus, Delnatte, Capucine, Derive, Nicolas, Diez, Orland, Ditsch, Nina, Domchek, Susan M., Dutrannoy, Veronique, Eccles, Diana M., Ehrencrona, Hans, Enders, Ute, Evans, D. Gareth, Farra, Chantal, Faust, Ulrike, Felbor, Ute, Feroce, Irene, Fine, Miriam, Foulkes, William D., Galvao, Henrique Cr, Gambino, Gaetana, Gehrig, Andrea, Gensini, Francesca, Gerdes, Anne-Marie, Germani, Aldo, Giesecke, Jutta, Gismondi, Viviana, Gomez, Carolina, Garcia, Encarna B. Gomez, Gonzalez, Sara, Grau, Elia, Grill, Sabine, Gross, Eva, Guerrieri-Gonzaga, Aliana, Guillaud-Bataille, Marine, Gutierrez-Enriquez, Sara, Haaf, Thomas, Hackmann, Karl, Hansen, Thomas Vo, Harris, Marion, Hauke, Jan, Heinrich, Tilman, Hellebrand, Heide, Herold, Karen N., Honisch, Ellen, Horvath, Judit, Houdayer, Claude, Huebbel, Verena, Iglesias, Silvia, Izquierdo, Angel, James, Paul A., Janssen, Linda Am, Jeschke, Udo, Kaulfuss, Silke, Keupp, Katharina, Kiechle, Marion, Koelbl, Alexandra, Krieger, Sophie, Kruse, Torben A., Kvist, Anders, Lalloo, Fiona, Larsen, Mirjam, Lattimore, Vanessa L., Lautrup, Charlotte, Ledig, Susanne, Leinert, Elena, Lewis, Alexandra L., Lim, Joanna, Loeffler, Markus, Lopez-Fernandez, Adria, Lucci-Cordisco, Emanuela, Maass, Nicolai, Manoukian, Siranoush, Marabelli, Monica, Matricardi, Laura, Meindl, Alfons, Michelli, Rodrigo D., Moghadasi, Setareh, Moles-Fernandez, Alejandro, Montagna, Marco, Montalban, Gemma, Monteiro, Alvaro N., Montes, Eva, Mori, Luigi, Moserle, Lidia, Mueller, Clemens R., Mundhenke, Christoph, Naldi, Nadia, Nathanson, Katherine L., Navarro, Matilde, Nevanlinna, Heli, Nichols, Cassandra B., Niederacher, Dieter, Nielsen, Henriette R., Ong, Kai-ren, Pachter, Nicholas, Palmero, Edenir, I, Papi, Laura, Pedersen, Inge Sokilde, Peissel, Bernard, Perez-Segura, Pedro, Pfeifer, Katharina, Pineda, Marta, Pohl-Rescigno, Esther, Poplawski, Nicola K., Porfirio, Berardino, Quante, Anne S., Ramser, Juliane, Reis, Rui M., Revillion, Francoise, Rhiem, Kerstin, Riboli, Barbara, Ritter, Julia, Rivera, Daniela, Rofes, Paula, Rump, Andreas, Salinas, Monica, Sanchez de Abajo, Ana Maria, Schmidt, Gunnar, Schoenwiese, Ulrike, Seggewiss, Jochen, Solanes, Ares, Steinemann, Doris, Stiller, Mathias, Stoppa-Lyonnet, Dominique, Sullivan, Kelly J., Susman, Rachel, Sutter, Christian, Tavtigian, Sean, V, Teo, Soo H., Teule, Alex, Thomassen, Mads, Tibiletti, Maria Grazia, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E., Tornero, Eva, Torngren, Therese, Torres-Esquius, Sara, Toss, Angela, Trainer, Alison H., Tucker, Katherine M., van Asperen, Christi J., van Mackelenbergh, Marion T., Varesco, Liliana, Vargas-Parra, Gardenia, Varon, Raymonda, Vega, Ana, Velasco, Angela, Vesper, Anne-Sophie, Viel, Alessandra, Vreeswijk, Maaike P. G., Wagner, Sebastian A., Waha, Anke, Walker, Logan C., Walters, Rhiannon J., Wang-Gohrke, Shan, Weber, Bernhard H. F., Weichert, Wilko, Wieland, Kerstin, Wiesmueller, Lisa, Witzel, Isabell, Woeckel, Achim, Woodward, Emma R., Zachariae, Silke, Zampiga, Valentina, Zeder-Goss, Christine, Lazaro, Conxi, De Nicolo, Arcangela, Radice, Paolo, Engel, Christoph, Schmutzler, Rita K., Goldgar, David E., Spurdle, Amanda B., Parsons, Michael T., Tudini, Emma, Li, Hongyan, Hahnen, Eric, Wappenschmidt, Barbara, Feliubadalo, Lidia, Aalfs, Cora M., Agata, Simona, Aittomaki, Kristiina, Alducci, Elisa, Concepcion Alonso-Cerezo, Maria, Arnold, Norbert, Auber, Bernd, Austin, Rachel, Azzollini, Jacopo, Balmana, Judith, Barbieri, Elena, Bartram, Claus R., Blanco, Ana, Bluemcke, Britta, Bonache, Sandra, Bonanni, Bernardo, Borg, Ake, Bortesi, Beatrice, Brunet, Joan, Bruzzone, Carla, Bucksch, Karolin, Cagnoli, Giulia, Caldes, Trinidad, Caliebe, Almuth, Caligo, Maria A., Calvello, Mariarosaria, Capone, Gabriele L., Caputo, Sandrine M., Carnevali, Ileana, Carrasco, Estela, Caux-Moncoutier, Virginie, Cavalli, Pietro, Cini, Giulia, Clarke, Edward M., Concolino, Paola, Cops, Elisa J., Cortesi, Laura, Couch, Fergus J., Darder, Esther, de la Hoya, Miguel, Dean, Michael, Debatin, Irmgard, Del Valle, Jesus, Delnatte, Capucine, Derive, Nicolas, Diez, Orland, Ditsch, Nina, Domchek, Susan M., Dutrannoy, Veronique, Eccles, Diana M., Ehrencrona, Hans, Enders, Ute, Evans, D. Gareth, Farra, Chantal, Faust, Ulrike, Felbor, Ute, Feroce, Irene, Fine, Miriam, Foulkes, William D., Galvao, Henrique Cr, Gambino, Gaetana, Gehrig, Andrea, Gensini, Francesca, Gerdes, Anne-Marie, Germani, Aldo, Giesecke, Jutta, Gismondi, Viviana, Gomez, Carolina, Garcia, Encarna B. Gomez, Gonzalez, Sara, Grau, Elia, Grill, Sabine, Gross, Eva, Guerrieri-Gonzaga, Aliana, Guillaud-Bataille, Marine, Gutierrez-Enriquez, Sara, Haaf, Thomas, Hackmann, Karl, Hansen, Thomas Vo, Harris, Marion, Hauke, Jan, Heinrich, Tilman, Hellebrand, Heide, Herold, Karen N., Honisch, Ellen, Horvath, Judit, Houdayer, Claude, Huebbel, Verena, Iglesias, Silvia, Izquierdo, Angel, James, Paul A., Janssen, Linda Am, Jeschke, Udo, Kaulfuss, Silke, Keupp, Katharina, Kiechle, Marion, Koelbl, Alexandra, Krieger, Sophie, Kruse, Torben A., Kvist, Anders, Lalloo, Fiona, Larsen, Mirjam, Lattimore, Vanessa L., Lautrup, Charlotte, Ledig, Susanne, Leinert, Elena, Lewis, Alexandra L., Lim, Joanna, Loeffler, Markus, Lopez-Fernandez, Adria, Lucci-Cordisco, Emanuela, Maass, Nicolai, Manoukian, Siranoush, Marabelli, Monica, Matricardi, Laura, Meindl, Alfons, Michelli, Rodrigo D., Moghadasi, Setareh, Moles-Fernandez, Alejandro, Montagna, Marco, Montalban, Gemma, Monteiro, Alvaro N., Montes, Eva, Mori, Luigi, Moserle, Lidia, Mueller, Clemens R., Mundhenke, Christoph, Naldi, Nadia, Nathanson, Katherine L., Navarro, Matilde, Nevanlinna, Heli, Nichols, Cassandra B., Niederacher, Dieter, Nielsen, Henriette R., Ong, Kai-ren, Pachter, Nicholas, Palmero, Edenir, I, Papi, Laura, Pedersen, Inge Sokilde, Peissel, Bernard, Perez-Segura, Pedro, Pfeifer, Katharina, Pineda, Marta, Pohl-Rescigno, Esther, Poplawski, Nicola K., Porfirio, Berardino, Quante, Anne S., Ramser, Juliane, Reis, Rui M., Revillion, Francoise, Rhiem, Kerstin, Riboli, Barbara, Ritter, Julia, Rivera, Daniela, Rofes, Paula, Rump, Andreas, Salinas, Monica, Sanchez de Abajo, Ana Maria, Schmidt, Gunnar, Schoenwiese, Ulrike, Seggewiss, Jochen, Solanes, Ares, Steinemann, Doris, Stiller, Mathias, Stoppa-Lyonnet, Dominique, Sullivan, Kelly J., Susman, Rachel, Sutter, Christian, Tavtigian, Sean, V, Teo, Soo H., Teule, Alex, Thomassen, Mads, Tibiletti, Maria Grazia, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E., Tornero, Eva, Torngren, Therese, Torres-Esquius, Sara, Toss, Angela, Trainer, Alison H., Tucker, Katherine M., van Asperen, Christi J., van Mackelenbergh, Marion T., Varesco, Liliana, Vargas-Parra, Gardenia, Varon, Raymonda, Vega, Ana, Velasco, Angela, Vesper, Anne-Sophie, Viel, Alessandra, Vreeswijk, Maaike P. G., Wagner, Sebastian A., Waha, Anke, Walker, Logan C., Walters, Rhiannon J., Wang-Gohrke, Shan, Weber, Bernhard H. F., Weichert, Wilko, Wieland, Kerstin, Wiesmueller, Lisa, Witzel, Isabell, Woeckel, Achim, Woodward, Emma R., Zachariae, Silke, Zampiga, Valentina, Zeder-Goss, Christine, Lazaro, Conxi, De Nicolo, Arcangela, Radice, Paolo, Engel, Christoph, Schmutzler, Rita K., Goldgar, David E., and Spurdle, Amanda B.
Abstract: The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for multiple cancer syndrome genes. Independent data types currently incorporated in the model for assessing BRCA1 and BRCA2 variants include clinically calibrated prior probability of pathogenicity based on variant location and bioinformatic prediction of variant effect, co-segregation, family cancer history profile, co-occurrence with a pathogenic variant in the same gene, breast tumor pathology, and case-control information. Research and clinical data for multifactorial likelihood analysis were collated for 1,395 BRCA1/2 predominantly intronic and missense variants, enabling classification based on posterior probability of pathogenicity for 734 variants: 447 variants were classified as (likely) benign, and 94 as (likely) pathogenic; and 248 classifications were new or considerably altered relative to ClinVar submissions. Classifications were compared with information not yet included in the likelihood model, and evidence strengths aligned to those recommended for ACMG/AMP classification codes. Altered mRNA splicing or function relative to known nonpathogenic variant controls were moderately to strongly predictive of variant pathogenicity. Variant absence in population datasets provided supporting evidence for variant pathogenicity. These findings have direct relevance for BRCA1 and BRCA2 variant evaluation, and justify the need for gene-specific calibration of evidence types used for variant classification.
Published: 2019

18. Correction: Putting genome-wide sequencing in neonates into perspective

Author: Genetica Klinische Genetica, Cancer, van der Sluijs, Pleuntje J., Aten, Emmelien, Barge-Schaapveld, Daniela Q.C.M., Bijlsma, Emilia K., Bökenkamp-Gramann, Regina, Kaat, Laura Donker, van Doorn, Remco, van de Putte, Dietje Fransen, van Haeringen, Arie, ten Harkel, Arend D.J., Hilhorst-Hofstee, Yvonne, Hoffer, Mariette J.V., den Hollander, Nicolette S., van Ierland, Yvette, Koopmans, Marije, Kriek, Marjolein, Moghadasi, Setareh, Nibbeling, Esther A.R., Peeters-Scholte, Cacha M.P.C.D., Potjer, Thomas P., van Rij, Maartje, Ruivenkamp, Claudia A.L., Rutten, Julie W., Steggerda, Sylke J., Suerink, Manon, Tan, Ratna N.G.B., van der Tuin, Karin, Visser, Remco, van der Werf–t Lam, Anne Sophie, Williams, Monique, Witlox, Ruben, Santen, Gijs W.E., Genetica Klinische Genetica, Cancer, van der Sluijs, Pleuntje J., Aten, Emmelien, Barge-Schaapveld, Daniela Q.C.M., Bijlsma, Emilia K., Bökenkamp-Gramann, Regina, Kaat, Laura Donker, van Doorn, Remco, van de Putte, Dietje Fransen, van Haeringen, Arie, ten Harkel, Arend D.J., Hilhorst-Hofstee, Yvonne, Hoffer, Mariette J.V., den Hollander, Nicolette S., van Ierland, Yvette, Koopmans, Marije, Kriek, Marjolein, Moghadasi, Setareh, Nibbeling, Esther A.R., Peeters-Scholte, Cacha M.P.C.D., Potjer, Thomas P., van Rij, Maartje, Ruivenkamp, Claudia A.L., Rutten, Julie W., Steggerda, Sylke J., Suerink, Manon, Tan, Ratna N.G.B., van der Tuin, Karin, Visser, Remco, van der Werf–t Lam, Anne Sophie, Williams, Monique, Witlox, Ruben, and Santen, Gijs W.E.
Published: 2019

19. Thec. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant : breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

Author: Moghadasi, Setareh, Meeks, Huong D., Vreeswijk, Maaike P G, Janssen, Linda A.M., Borg, Åke, Ehrencrona, Hans, Paulsson-Karlsson, Ylva, Wappenschmidt, Barbara, Engel, Christoph, Gehrig, Andrea, Arnold, Norbert, Van Overeem Hansen, Thomas, Thomassen, Mads, Jensen, Uffe Birk, Kruse, Torben A., Ejlertsen, Bent, Gerdes, Anne Marie, Pedersen, Inge Søkilde, Caputo, Sandrine M., Couch, Fergus J., Hallberg, Emily J., Van Den Ouweland, Ans M W, Collée, J. Margriet, Teugels, Erik, Adank, Muriel A., van der Luijt, Rob B., Mensenkamp, Arjen R., Oosterwijk, Jan C., Blok, Marinus J., Janin, Nicolas, Claes, Kathleen B M, Tucker, Kathy, Viassolo, Valeria, Toland, Amanda Ewart, Eccles, Diana E., Devilee, Peter, Van Asperen, Christie J., Spurdle, Amanda B., Goldgar, David E., and García, Encarna Gómez
Subjects: Genetics, Journal Article, Genetics(clinical)
Abstract: BACKGROUND: We previously showed that theBRCA1variant c.5096G>A p.Arg1699Gln (R1699Q) was associated with an intermediate risk of breast cancer (BC) and ovarian cancer (OC). This study aimed to assess these cancer risks for R1699Q carriers in a larger cohort, including follow-up of previously studied families, to further define cancer risks and to propose adjusted clinical management of femaleBRCA1*R1699Q carriers. METHODS: Data were collected from 129BRCA1*R1699Q families ascertained internationally by ENIGMA (Evidence-based Network for the Interpretation of Germline Mutant Alleles) consortium members. A modified segregation analysis was used to calculate BC and OC risks. Relative risks were calculated under both monogenic model and major gene plus polygenic model assumptions. RESULTS: In this cohort the cumulative risk of BC and OC by age 70 years was 20% and 6%, respectively. The relative risk for developing cancer was higher when using a model that included the effects of both the R1699Q variant and a residual polygenic component compared with monogenic model (for BC 3.67 vs 2.83, and for OC 6.41 vs 5.83). CONCLUSION: Our results confirm thatBRCA1*R1699Q confers an intermediate risk for BC and OC. Breast surveillance for female carriers based on mammogram annually from age 40 is advised. Bilateral salpingo-oophorectomy should be considered based on family history.
Published: 2018

20. Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group

Author: Nielsen, Sarah M., primary, Eccles, Diana M., additional, Romero, Iris L., additional, Al-Mulla, Fahd, additional, Balmaña, Judith, additional, Biancolella, Michela, additional, Blok, Rien, additional, Caligo, Maria Adelaide, additional, Calvello, Mariarosaria, additional, Capone, Gabriele Lorenzo, additional, Cavalli, Pietro, additional, Chan, T.L. Chris, additional, Claes, Kathleen B.M., additional, Cortesi, Laura, additional, Couch, Fergus J., additional, de la Hoya, Miguel, additional, De Toffol, Simona, additional, Diez, Orland, additional, Domchek, Susan M., additional, Eeles, Ros, additional, Efremidis, Anna, additional, Fostira, Florentia, additional, Goldgar, David, additional, Hadjisavvas, Andreas, additional, Hansen, Thomas v.O., additional, Hirasawa, Akira, additional, Houdayer, Claude, additional, Kleiblova, Petra, additional, Krieger, Sophie, additional, Lázaro, Conxi, additional, Loizidou, Maria, additional, Manoukian, Siranoush, additional, Mensenkamp, Arjen R., additional, Moghadasi, Setareh, additional, Monteiro, Alvaro N., additional, Mori, Luigi, additional, Morrow, April, additional, Naldi, Nadia, additional, Nielsen, Henriette R., additional, Olopade, Olufunmilayo I., additional, Pachter, Nicholas S., additional, Palmero, Edenir I., additional, Pedersen, Inge S., additional, Piane, Maria, additional, Puzzo, Marianna, additional, Robson, Mark, additional, Rossing, Maria, additional, Sini, Maria Christina, additional, Solano, Angela, additional, Soukupova, Jana, additional, Tedaldi, Gianluca, additional, Teixeira, Manuel, additional, Thomassen, Mads, additional, Tibiletti, Maria Grazia, additional, Toland, Amanda, additional, Törngren, Therese, additional, Vaccari, Erica, additional, Varesco, Liliana, additional, Vega, Ana, additional, Wallis, Yvonne, additional, Wappenschmidt, Barbara, additional, Weitzel, Jeffrey, additional, Spurdle, Amanda B., additional, De Nicolo, Arcangela, additional, and Gómez-García, Encarna B., additional
Published: 2018
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21. The BRCA1 c. 5096G > A p.Arg1699Gln (R1699Q) intermediate risk variant : breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

Author: Moghadasi, Setareh, Meeks, Huong D., Vreeswijk, Maaike P. G., Janssen, Linda A. M., Borg, Ake, Ehrencrona, Hans, Paulsson-Karlsson, Ylva, Wappenschmidt, Barbara, Engel, Christoph, Gehrig, Andrea, Arnold, Norbert, Hansen, Thomas Van Overeem, Thomassen, Mads, Jensen, Uffe Birk, Kruse, Torben A., Ejlertsen, Bent, Gerdes, Anne-Marie, Pedersen, Inge Sokilde, Caputo, Sandrine M., Couch, Fergus, Hallberg, Emily J., van den Ouweland, Ans M. W., Collee, Margriet J., Teugels, Erik, Adank, Muriel A., van der Luijt, Rob B., Mensenkamp, Arjen R., Oosterwijk, Jan C., Blok, Marinus J., Janin, Nicolas, Claes, Kathleen B. M., Tucker, Kathy, Viassolo, Valeria, Toland, Amanda Ewart, Eccles, Diana E., Devilee, Peter, Van Asperen, Christie J., Spurdle, Amanda B., Goldgar, David E., Garcia, Encarna Gomez, Moghadasi, Setareh, Meeks, Huong D., Vreeswijk, Maaike P. G., Janssen, Linda A. M., Borg, Ake, Ehrencrona, Hans, Paulsson-Karlsson, Ylva, Wappenschmidt, Barbara, Engel, Christoph, Gehrig, Andrea, Arnold, Norbert, Hansen, Thomas Van Overeem, Thomassen, Mads, Jensen, Uffe Birk, Kruse, Torben A., Ejlertsen, Bent, Gerdes, Anne-Marie, Pedersen, Inge Sokilde, Caputo, Sandrine M., Couch, Fergus, Hallberg, Emily J., van den Ouweland, Ans M. W., Collee, Margriet J., Teugels, Erik, Adank, Muriel A., van der Luijt, Rob B., Mensenkamp, Arjen R., Oosterwijk, Jan C., Blok, Marinus J., Janin, Nicolas, Claes, Kathleen B. M., Tucker, Kathy, Viassolo, Valeria, Toland, Amanda Ewart, Eccles, Diana E., Devilee, Peter, Van Asperen, Christie J., Spurdle, Amanda B., Goldgar, David E., and Garcia, Encarna Gomez
Abstract: Background: We previously showed that the BRCA1 variant c. 5096G> A p.Arg1699Gln (R1699Q) was associated with an intermediate risk of breast cancer (BC) and ovarian cancer (OC). This study aimed to assess these cancer risks for R1699Q carriers in a larger cohort, including follow-up of previously studied families, to further define cancer risks and to propose adjusted clinical management of female BRCA1* R1699Q carriers. Methods: Data were collected from 129 BRCA1* R1699Q families ascertained internationally by ENIGMA (Evidence-based Network for the Interpretation of Germline Mutant Alleles) consortium members. A modified segregation analysis was used to calculate BC and OC risks. Relative risks were calculated under both monogenic model and major gene plus polygenic model assumptions. Results: In this cohort the cumulative risk of BC and OC by age 70 years was 20% and 6%, respectively. The relative risk for developing cancer was higher when using a model that included the effects of both the R1699Q variant and a residual polygenic component compared with monogenic model (for BC 3.67 vs 2.83, and for OC 6.41 vs 5.83). Conclusion: O ur results confirm that BRCA1* R1699Q confers an intermediate risk for BC and OC. Breast surveillance for female carriers based on mammogram annually from age 40 is advised. Bilateral salpingooophorectomy should be considered based on family history.
Published: 2018
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22. Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group

Author: Nielsen, Sarah M., Eccles, Diana M., Romero, Iris L., Al-Mulla, Fand, Balmana, Judith, Biancolella, Michela, Blok, Rien, Caligo, Maria Adelaide, Calvello, Mariarosaria, Capone, Gabriele Lorenzo, Cavalli, Pietro, Chan, T. L. Chris, Claes, Kathleen B. M., Cortesi, Laura, Couch, Fergus J., de la Hoya, Miguel, de Toffol, Simona, Diez, Orland, Domchek, Susan M., Eeles, Ros, Efremidis, Anna, Fostira, Florentia, Goldgar, David, Hadjisavvas, Andreas, Hansen, Thomas v O., Hirasawa, Akira, Houdayer, Claude, Kleiblova, Petra, Krieger, Sophie, Lazaro, Conxi, Loizidou, Maria, Manoukian, Siranoush, Mensenkamp, Arjen R., Moghadasi, Setareh, Monteiro, Alvaro N., Mori, Luigi, Morrow, April, Naldi, Nadia, Nielsen, Henriette R., Olopade, Olufunmilayo, I, Pachter, Nicholas S., Palrnero, Edenir, I, Pedersen, Inge S., Piane, Maria, Puzzo, Marianna, Robson, Mark, Rossing, Maria, Sini, Maria Christina, Solano, Angela, Soukupova, Jana, Tedaldi, Gianluca, Teixeira, Manuel, Thomassen, Mads, Tibiletti, Maria Grazia, Toland, Amanda, Torngren, Therese, Vaccari, Erica, Varesco, Liliana, Vega, Ana, Wallis, Yvonne, Wappenschmidt, Barbara, Weitzel, Jeffrey, Spurdle, Amanda B., De Nicolo, Arcangela, Gomez-Garcia, Encarna B., Nielsen, Sarah M., Eccles, Diana M., Romero, Iris L., Al-Mulla, Fand, Balmana, Judith, Biancolella, Michela, Blok, Rien, Caligo, Maria Adelaide, Calvello, Mariarosaria, Capone, Gabriele Lorenzo, Cavalli, Pietro, Chan, T. L. Chris, Claes, Kathleen B. M., Cortesi, Laura, Couch, Fergus J., de la Hoya, Miguel, de Toffol, Simona, Diez, Orland, Domchek, Susan M., Eeles, Ros, Efremidis, Anna, Fostira, Florentia, Goldgar, David, Hadjisavvas, Andreas, Hansen, Thomas v O., Hirasawa, Akira, Houdayer, Claude, Kleiblova, Petra, Krieger, Sophie, Lazaro, Conxi, Loizidou, Maria, Manoukian, Siranoush, Mensenkamp, Arjen R., Moghadasi, Setareh, Monteiro, Alvaro N., Mori, Luigi, Morrow, April, Naldi, Nadia, Nielsen, Henriette R., Olopade, Olufunmilayo, I, Pachter, Nicholas S., Palrnero, Edenir, I, Pedersen, Inge S., Piane, Maria, Puzzo, Marianna, Robson, Mark, Rossing, Maria, Sini, Maria Christina, Solano, Angela, Soukupova, Jana, Tedaldi, Gianluca, Teixeira, Manuel, Thomassen, Mads, Tibiletti, Maria Grazia, Toland, Amanda, Torngren, Therese, Vaccari, Erica, Varesco, Liliana, Vega, Ana, Wallis, Yvonne, Wappenschmidt, Barbara, Weitzel, Jeffrey, Spurdle, Amanda B., De Nicolo, Arcangela, and Gomez-Garcia, Encarna B.
Abstract: Purpose To describe a snapshot of international genetic testing practices, specifically regarding the use of multigene panels, for hereditary breast/ovarian cancers. We conducted a survey through the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) consortium, covering questions about 16 non-BRCA1/2 genes. Methods Data were collected via in-person and paper/electronic surveys. ENIGMA members from around the world were invited to participate. Additional information was collected via country networks in the United Kingdom and in Italy. Results Responses from 61 cancer genetics practices across 20 countries showed that 16 genes were tested by > 50% of the centers, but only six (PALB2, TP53, PTEN, CHEK2, ATM, and BRIP1) were tested regularly. US centers tested the genes most often, whereas United Kingdom and Italian centers with no direct ENIGMA affiliation at the time of the survey were the least likely to regularly test them. Most centers tested the 16 genes through multigene panels; some centers tested TP53, PTEN, and other cancer syndrome-associated genes individually. Most centers reported (likely) pathogenic variants to patients and would test family members for such variants. Gene-specific guidelines for breast and ovarian cancer risk management were limited and differed among countries, especially with regard to starting age and type of imaging and risk-reducing surgery recommendations. Conclusion Currently, a small number of genes beyond BRCA1/2 are routinely analyzed worldwide, and management guidelines are limited and largely based on expert opinion. To attain clinical implementation of multigene panel testing through evidence-based management practices, it is paramount that clinicians (and patients) participate in international initiatives that share panel testing data, interpret sequence variants, and collect prospective data to underpin risk estimates and evaluate the outcome of risk intervention strategies. (C) 2018 by Ame
Published: 2018

23. Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G > T p.(Gly1770Val)

Author: Tudini, Emma, Moghadasi, Setareh, Parsons, Michael T., van der Kolk, Lizet, van den Ouweland, Ans M. W., Niederacher, Dieter, Feliubadalo, Lidia, Wappenschmidt, Barbara, Spurdle, Amanda B., Lazaro, Conxi, Tudini, Emma, Moghadasi, Setareh, Parsons, Michael T., van der Kolk, Lizet, van den Ouweland, Ans M. W., Niederacher, Dieter, Feliubadalo, Lidia, Wappenschmidt, Barbara, Spurdle, Amanda B., and Lazaro, Conxi
Abstract: PurposeClassification of rare BRCA1 missense variants presents a major challenge for the counseling and treatment of patients. Variant classification can be complicated by conflicting lines of evidence. BRCA1 c.5309G>T p.(Gly1770Val) has been shown to abrogate BRCA1 protein homologous DNA repair; however, multiple sequence alignment demonstrates a lack of sequence conservation at this position, suggesting that glycine at position 1770 may not be essential for cellular maintenance in humans. We analyzed clinical information to resolve the classification of BRCA1 c.5309G>T p.(Gly1770Val).MethodsWe performed multifactorial likelihood analysis combining segregation data for 14 informative families, and breast tumor histopathological data for 17 variant carriers, ascertained through the ENIGMA consortium.ResultsBayes segregation analysis gave a likelihood ratio of 101:1 in favor of pathogenicity. The vast majority of breast tumors showed features indicative of pathogenic variant carrier status, resulting in a likelihood ratio of 15800794:1 towards pathogenicity. Despite a low prior probability of pathogenicity (0.03) based on bioinformatic prediction, multifactorial likelihood analysis including segregation and histopathology analysis gave a posterior probability of >0.99 and final classification of Pathogenic.ConclusionsWe provide evidence that BRCA1 c.5309G>T p.(Gly1770Val), previously described as a Moroccan founder variant, should be treated as a disease-causing variant despite a lack of evolutionary conservation at this amino acid position. Additionally, we stress that bioinformatic information should be used in combination with other data, either direct clinical evidence or some form of clinical calibration, to arrive at a final clinical classification.
Published: 2018

24. The c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.

Author: UCL - (SLuc) Centre de génétique médicale UCL, Moghadasi, Setareh, Meeks, Huong D, Vreeswijk, Maaike Pg, Janssen, Linda Am, Borg, Åke, Ehrencrona, Hans, Paulsson-Karlsson, Ylva, Wappenschmidt, Barbara, Engel, Christoph, Gehrig, Andrea, Arnold, Norbert, Hansen, Thomas Van Overeem, Thomassen, Mads, Jensen, Uffe Birk, Kruse, Torben A, Ejlertsen, Bent, Gerdes, Anne-Marie, Pedersen, Inge Søkilde, Caputo, Sandrine M, Couch, Fergus, Hallberg, Emily J, van den Ouweland, Ans Mw, Collée, Margriet J, Teugels, Erik, Adank, Muriel A, van der Luijt, Rob B, Mensenkamp, Arjen R, Oosterwijk, Jan C, Blok, Marinus J, Janin, Nicolas, Claes, Kathleen Bm, Tucker, Kathy, Viassolo, Valeria, Toland, Amanda Ewart, Eccles, Diana E, Devilee, Peter, Van Asperen, Christie J, Spurdle, Amanda B, Goldgar, David E, García, Encarna Gómez, UCL - (SLuc) Centre de génétique médicale UCL, Moghadasi, Setareh, Meeks, Huong D, Vreeswijk, Maaike Pg, Janssen, Linda Am, Borg, Åke, Ehrencrona, Hans, Paulsson-Karlsson, Ylva, Wappenschmidt, Barbara, Engel, Christoph, Gehrig, Andrea, Arnold, Norbert, Hansen, Thomas Van Overeem, Thomassen, Mads, Jensen, Uffe Birk, Kruse, Torben A, Ejlertsen, Bent, Gerdes, Anne-Marie, Pedersen, Inge Søkilde, Caputo, Sandrine M, Couch, Fergus, Hallberg, Emily J, van den Ouweland, Ans Mw, Collée, Margriet J, Teugels, Erik, Adank, Muriel A, van der Luijt, Rob B, Mensenkamp, Arjen R, Oosterwijk, Jan C, Blok, Marinus J, Janin, Nicolas, Claes, Kathleen Bm, Tucker, Kathy, Viassolo, Valeria, Toland, Amanda Ewart, Eccles, Diana E, Devilee, Peter, Van Asperen, Christie J, Spurdle, Amanda B, Goldgar, David E, and García, Encarna Gómez
Abstract: We previously showed that the variant c.5096G>A p.Arg1699Gln (R1699Q) was associated with an intermediate risk of breast cancer (BC) and ovarian cancer (OC). This study aimed to assess these cancer risks for R1699Q carriers in a larger cohort, including follow-up of previously studied families, to further define cancer risks and to propose adjusted clinical management of female *R1699Q carriers. Data were collected from 129 *R1699Q families ascertained internationally by ENIGMA (Evidence-based Network for the Interpretation of Germline Mutant Alleles) consortium members. A modified segregation analysis was used to calculate BC and OC risks. Relative risks were calculated under both monogenic model and major gene plus polygenic model assumptions. In this cohort the cumulative risk of BC and OC by age 70 years was 20% and 6%, respectively. The relative risk for developing cancer was higher when using a model that included the effects of both the R1699Q variant and a residual polygenic component compared with monogenic model (for BC 3.67 vs 2.83, and for OC 6.41 vs 5.83). Our results confirm that *R1699Q confers an intermediate risk for BC and OC. Breast surveillance for female carriers based on mammogram annually from age 40 is advised. Bilateral salpingo-oophorectomy should be considered based on family history.
Published: 2018

25. Thec. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

Author: Genetica Sectie Genoomdiagnostiek, Cancer, Moghadasi, Setareh, Meeks, Huong D., Vreeswijk, Maaike P G, Janssen, Linda A.M., Borg, Åke, Ehrencrona, Hans, Paulsson-Karlsson, Ylva, Wappenschmidt, Barbara, Engel, Christoph, Gehrig, Andrea, Arnold, Norbert, Van Overeem Hansen, Thomas, Thomassen, Mads, Jensen, Uffe Birk, Kruse, Torben A., Ejlertsen, Bent, Gerdes, Anne Marie, Pedersen, Inge Søkilde, Caputo, Sandrine M., Couch, Fergus J., Hallberg, Emily J., Van Den Ouweland, Ans M W, Collée, J. Margriet, Teugels, Erik, Adank, Muriel A., van der Luijt, Rob B., Mensenkamp, Arjen R., Oosterwijk, Jan C., Blok, Marinus J., Janin, Nicolas, Claes, Kathleen B M, Tucker, Kathy, Viassolo, Valeria, Toland, Amanda Ewart, Eccles, Diana E., Devilee, Peter, Van Asperen, Christie J., Spurdle, Amanda B., Goldgar, David E., García, Encarna Gómez, Genetica Sectie Genoomdiagnostiek, Cancer, Moghadasi, Setareh, Meeks, Huong D., Vreeswijk, Maaike P G, Janssen, Linda A.M., Borg, Åke, Ehrencrona, Hans, Paulsson-Karlsson, Ylva, Wappenschmidt, Barbara, Engel, Christoph, Gehrig, Andrea, Arnold, Norbert, Van Overeem Hansen, Thomas, Thomassen, Mads, Jensen, Uffe Birk, Kruse, Torben A., Ejlertsen, Bent, Gerdes, Anne Marie, Pedersen, Inge Søkilde, Caputo, Sandrine M., Couch, Fergus J., Hallberg, Emily J., Van Den Ouweland, Ans M W, Collée, J. Margriet, Teugels, Erik, Adank, Muriel A., van der Luijt, Rob B., Mensenkamp, Arjen R., Oosterwijk, Jan C., Blok, Marinus J., Janin, Nicolas, Claes, Kathleen B M, Tucker, Kathy, Viassolo, Valeria, Toland, Amanda Ewart, Eccles, Diana E., Devilee, Peter, Van Asperen, Christie J., Spurdle, Amanda B., Goldgar, David E., and García, Encarna Gómez
Published: 2018

26. The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant:breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

Author: Moghadasi, Setareh, Meeks, Huong D, Vreeswijk, Maaike Pg, Janssen, Linda Am, Borg, Åke, Ehrencrona, Hans, Paulsson-Karlsson, Ylva, Wappenschmidt, Barbara, Engel, Christoph, Gehrig, Andrea, Arnold, Norbert, Hansen, Thomas Van Overeem, Thomassen, Mads, Jensen, Uffe Birk, Kruse, Torben A, Ejlertsen, Bent, Gerdes, Anne-Marie, Pedersen, Inge Søkilde, Caputo, Sandrine M, Couch, Fergus, Hallberg, Emily J, van den Ouweland, Ans Mw, Collée, Margriet J, Teugels, Erik, Adank, Muriel A, van der Luijt, Rob B, Mensenkamp, Arjen R, Oosterwijk, Jan C, Blok, Marinus J, Janin, Nicolas, Claes, Kathleen Bm, Tucker, Kathy, Viassolo, Valeria, Toland, Amanda Ewart, Eccles, Diana E, Devilee, Peter, Van Asperen, Christie J, Spurdle, Amanda B, Goldgar, David E, García, Encarna Gómez, Moghadasi, Setareh, Meeks, Huong D, Vreeswijk, Maaike Pg, Janssen, Linda Am, Borg, Åke, Ehrencrona, Hans, Paulsson-Karlsson, Ylva, Wappenschmidt, Barbara, Engel, Christoph, Gehrig, Andrea, Arnold, Norbert, Hansen, Thomas Van Overeem, Thomassen, Mads, Jensen, Uffe Birk, Kruse, Torben A, Ejlertsen, Bent, Gerdes, Anne-Marie, Pedersen, Inge Søkilde, Caputo, Sandrine M, Couch, Fergus, Hallberg, Emily J, van den Ouweland, Ans Mw, Collée, Margriet J, Teugels, Erik, Adank, Muriel A, van der Luijt, Rob B, Mensenkamp, Arjen R, Oosterwijk, Jan C, Blok, Marinus J, Janin, Nicolas, Claes, Kathleen Bm, Tucker, Kathy, Viassolo, Valeria, Toland, Amanda Ewart, Eccles, Diana E, Devilee, Peter, Van Asperen, Christie J, Spurdle, Amanda B, Goldgar, David E, and García, Encarna Gómez
Abstract: BACKGROUND: We previously showed that the BRCA1 variant c.5096G>A p.Arg1699Gln (R1699Q) was associated with an intermediate risk of breast cancer (BC) and ovarian cancer (OC). This study aimed to assess these cancer risks for R1699Q carriers in a larger cohort, including follow-up of previously studied families, to further define cancer risks and to propose adjusted clinical management of female BRCA1*R1699Q carriers.METHODS: Data were collected from 129 BRCA1*R1699Q families ascertained internationally by ENIGMA (Evidence-based Network for the Interpretation of Germline Mutant Alleles) consortium members. A modified segregation analysis was used to calculate BC and OC risks. Relative risks were calculated under both monogenic model and major gene plus polygenic model assumptions.RESULTS: In this cohort the cumulative risk of BC and OC by age 70 years was 20% and 6%, respectively. The relative risk for developing cancer was higher when using a model that included the effects of both the R1699Q variant and a residual polygenic component compared with monogenic model (for BC 3.67 vs 2.83, and for OC 6.41 vs 5.83).CONCLUSION: Our results confirm that BRCA1*R1699Q confers an intermediate risk for BC and OC. Breast surveillance for female carriers based on mammogram annually from age 40 is advised. Bilateral salpingo-oophorectomy should be considered based on family history.
Published: 2018

27. BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

Author: Shimelis, Hermela, primary, Mesman, Romy L.S., additional, Von Nicolai, Catharina, additional, Ehlen, Asa, additional, Guidugli, Lucia, additional, Martin, Charlotte, additional, Calléja, Fabienne M.G.R., additional, Meeks, Huong, additional, Hallberg, Emily, additional, Hinton, Jamie, additional, Lilyquist, Jenna, additional, Hu, Chunling, additional, Aalfs, Cora M., additional, Aittomäki, Kristiina, additional, Andrulis, Irene, additional, Anton-Culver, Hoda, additional, Arndt, Volker, additional, Beckmann, Matthias W., additional, Benitez, Javier, additional, Bogdanova, Natalia V., additional, Bojesen, Stig E., additional, Bolla, Manjeet K., additional, Borresen-Dale, Anne-Lise, additional, Brauch, Hiltrud, additional, Brennan, Paul, additional, Brenner, Hermann, additional, Broeks, Annegien, additional, Brouwers, Barbara, additional, Brüning, Thomas, additional, Burwinkel, Barbara, additional, Chang-Claude, Jenny, additional, Chenevix-Trench, Georgia, additional, Cheng, Ching-Yu, additional, Choi, Ji-Yeob, additional, Collée, J. Margriet, additional, Cox, Angela, additional, Cross, Simon S., additional, Czene, Kamila, additional, Darabi, Hatef, additional, Dennis, Joe, additional, Dörk, Thilo, additional, dos-Santos-Silva, Isabel, additional, Dunning, Alison M., additional, Fasching, Peter A., additional, Figueroa, Jonine, additional, Flyger, Henrik, additional, García-Closas, Montserrat, additional, Giles, Graham G., additional, Glendon, Gord, additional, Guénel, Pascal, additional, Haiman, Christopher A., additional, Hall, Per, additional, Hamann, Ute, additional, Hartman, Mikael, additional, Hogervorst, Frans B., additional, Hollestelle, Antoinette, additional, Hopper, John L., additional, Ito, Hidemi, additional, Jakubowska, Anna, additional, Kang, Daehee, additional, Kosma, Veli-Matti, additional, Kristensen, Vessela, additional, Lai, Kah-Nyin, additional, Lambrechts, Diether, additional, Marchand, Loic Le, additional, Li, Jingmei, additional, Lindblom, Annika, additional, Lophatananon, Artitaya, additional, Lubinski, Jan, additional, Machackova, Eva, additional, Mannermaa, Arto, additional, Margolin, Sara, additional, Marme, Frederik, additional, Matsuo, Keitaro, additional, Miao, Hui, additional, Michailidou, Kyriaki, additional, Milne, Roger L., additional, Muir, Kenneth, additional, Neuhausen, Susan L., additional, Nevanlinna, Heli, additional, Olson, Janet E., additional, Olswold, Curtis, additional, Oosterwijk, Jan J.C., additional, Osorio, Ana, additional, Peterlongo, Paolo, additional, Peto, Julian, additional, Pharoah, Paul D.P., additional, Pylkäs, Katri, additional, Radice, Paolo, additional, Rashid, Muhammad Usman, additional, Rhenius, Valerie, additional, Rudolph, Anja, additional, Sangrajrang, Suleeporn, additional, Sawyer, Elinor J., additional, Schmidt, Marjanka K., additional, Schoemaker, Minouk J., additional, Seynaeve, Caroline, additional, Shah, Mitul, additional, Shen, Chen-Yang, additional, Shrubsole, Martha, additional, Shu, Xiao-Ou, additional, Slager, Susan, additional, Southey, Melissa C., additional, Stram, Daniel O., additional, Swerdlow, Anthony, additional, Teo, Soo H., additional, Tomlinson, Ian, additional, Torres, Diana, additional, Truong, Thérèse, additional, van Asperen, Christi J., additional, van der Kolk, Lizet E., additional, Wang, Qin, additional, Winqvist, Robert, additional, Wu, Anna H., additional, Yu, Jyh-Cherng, additional, Zheng, Wei, additional, Zheng, Ying, additional, Leary, Jennifer, additional, Walker, Logan, additional, Foretova, Lenka, additional, Fostira, Florentia, additional, Claes, Kathleen B.M., additional, Varesco, Liliana, additional, Moghadasi, Setareh, additional, Easton, Douglas F., additional, Spurdle, Amanda, additional, Devilee, Peter, additional, Vrieling, Harry, additional, Monteiro, Alvaro N.A., additional, Goldgar, David E., additional, Carreira, Aura, additional, Vreeswijk, Maaike P.G., additional, and Couch, Fergus J., additional
Published: 2017
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28. The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

Author: Moghadasi, Setareh, primary, Meeks, Huong D, additional, Vreeswijk, Maaike PG, additional, Janssen, Linda AM, additional, Borg, Åke, additional, Ehrencrona, Hans, additional, Paulsson-Karlsson, Ylva, additional, Wappenschmidt, Barbara, additional, Engel, Christoph, additional, Gehrig, Andrea, additional, Arnold, Norbert, additional, Hansen, Thomas Van Overeem, additional, Thomassen, Mads, additional, Jensen, Uffe Birk, additional, Kruse, Torben A, additional, Ejlertsen, Bent, additional, Gerdes, Anne-Marie, additional, Pedersen, Inge Søkilde, additional, Caputo, Sandrine M, additional, Couch, Fergus, additional, Hallberg, Emily J, additional, van den Ouweland, Ans MW, additional, Collée, Margriet J, additional, Teugels, Erik, additional, Adank, Muriel A, additional, van der Luijt, Rob B, additional, Mensenkamp, Arjen R, additional, Oosterwijk, Jan C, additional, Blok, Marinus J, additional, Janin, Nicolas, additional, Claes, Kathleen BM, additional, Tucker, Kathy, additional, Viassolo, Valeria, additional, Toland, Amanda Ewart, additional, Eccles, Diana E, additional, Devilee, Peter, additional, Van Asperen, Christie J, additional, Spurdle, Amanda B, additional, Goldgar, David E, additional, and García, Encarna Gómez, additional
Published: 2017
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29. BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

Author: Shimelis, Hermela, Mesman, Romy L S, Von Nicolai, Catharina, Ehlen, Asa, Guidugli, Lucia, Martin, Charlotte, Calléja, Fabienne M G R, Meeks, Huong, Hallberg, Emily, Hinton, Jamie, Lilyquist, Jenna, Hu, Chunling, Aalfs, Cora M, Aittomäki, Kristiina, Andrulis, Irene, Anton-Culver, Hoda, Arndt, Volker, Beckmann, Matthias W, Benitez, Javier, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Borresen-Dale, Anne-Lise, Brauch, Hiltrud, Brennan, Paul, Brenner, Hermann, Broeks, Annegien, Brouwers, Barbara, Brüning, Thomas, Burwinkel, Barbara, Chang-Claude, Jenny, Chenevix-Trench, Georgia, Cheng, Ching-Yu, Choi, Ji-Yeob, Collée, J Margriet, Cox, Angela, Cross, Simon S, Czene, Kamila, Darabi, Hatef, Dennis, Joe, Dörk, Thilo, Dos-Santos-Silva, Isabel, Dunning, Alison M, Fasching, Peter A, Figueroa, Jonine, Flyger, Henrik, García-Closas, Montserrat, Giles, Graham G, Glendon, Gord, Guénel, Pascal, Haiman, Christopher A, Hall, Per, Hamann, Ute, Hartman, Mikael, Hogervorst, Frans B, Hollestelle, Antoinette, Hopper, John L, Ito, Hidemi, Jakubowska, Anna, Kang, Daehee, Kosma, Veli-Matti, Kristensen, Vessela, Lai, Kah-Nyin, Lambrechts, Diether, Marchand, Loic Le, Li, Jingmei, Lindblom, Annika, Lophatananon, Artitaya, Lubinski, Jan, Machackova, Eva, Mannermaa, Arto, Margolin, Sara, Marme, Frederik, Matsuo, Keitaro, Miao, Hui, Michailidou, Kyriaki, Milne, Roger L, Muir, Kenneth, Neuhausen, Susan L, Nevanlinna, Heli, Olson, Janet E, Olswold, Curtis, Oosterwijk, Jan J C, Osorio, Ana, Peterlongo, Paolo, Peto, Julian, Pharoah, Paul D P, Pylkäs, Katri, Radice, Paolo, Rashid, Muhammad Usman, Rhenius, Valerie, Rudolph, Anja, Sangrajrang, Suleeporn, Sawyer, Elinor J, Schmidt, Marjanka K, Schoemaker, Minouk J, Seynaeve, Caroline, Shah, Mitul, Shen, Chen-Yang, Shrubsole, Martha, Shu, Xiao-Ou, Slager, Susan, Southey, Melissa C, Stram, Daniel O, Swerdlow, Anthony, Teo, Soo H, Tomlinson, Ian, Torres, Diana, Truong, Thérèse, van Asperen, Christi J, van der Kolk, Lizet E, Wang, Qin, Winqvist, Robert, Wu, Anna H, Yu, Jyh-Cherng, Zheng, Wei, Zheng, Ying, Leary, Jennifer, Walker, Logan, Foretova, Lenka, Fostira, Florentia, Claes, Kathleen B M, Varesco, Liliana, Moghadasi, Setareh, Easton, Douglas F, Spurdle, Amanda, Devilee, Peter, Vrieling, Harry, Monteiro, Alvaro N A, Goldgar, David E, Carreira, Aura, Vreeswijk, Maaike P G, Couch, Fergus J, Shimelis, Hermela, Mesman, Romy L S, Von Nicolai, Catharina, Ehlen, Asa, Guidugli, Lucia, Martin, Charlotte, Calléja, Fabienne M G R, Meeks, Huong, Hallberg, Emily, Hinton, Jamie, Lilyquist, Jenna, Hu, Chunling, Aalfs, Cora M, Aittomäki, Kristiina, Andrulis, Irene, Anton-Culver, Hoda, Arndt, Volker, Beckmann, Matthias W, Benitez, Javier, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Borresen-Dale, Anne-Lise, Brauch, Hiltrud, Brennan, Paul, Brenner, Hermann, Broeks, Annegien, Brouwers, Barbara, Brüning, Thomas, Burwinkel, Barbara, Chang-Claude, Jenny, Chenevix-Trench, Georgia, Cheng, Ching-Yu, Choi, Ji-Yeob, Collée, J Margriet, Cox, Angela, Cross, Simon S, Czene, Kamila, Darabi, Hatef, Dennis, Joe, Dörk, Thilo, Dos-Santos-Silva, Isabel, Dunning, Alison M, Fasching, Peter A, Figueroa, Jonine, Flyger, Henrik, García-Closas, Montserrat, Giles, Graham G, Glendon, Gord, Guénel, Pascal, Haiman, Christopher A, Hall, Per, Hamann, Ute, Hartman, Mikael, Hogervorst, Frans B, Hollestelle, Antoinette, Hopper, John L, Ito, Hidemi, Jakubowska, Anna, Kang, Daehee, Kosma, Veli-Matti, Kristensen, Vessela, Lai, Kah-Nyin, Lambrechts, Diether, Marchand, Loic Le, Li, Jingmei, Lindblom, Annika, Lophatananon, Artitaya, Lubinski, Jan, Machackova, Eva, Mannermaa, Arto, Margolin, Sara, Marme, Frederik, Matsuo, Keitaro, Miao, Hui, Michailidou, Kyriaki, Milne, Roger L, Muir, Kenneth, Neuhausen, Susan L, Nevanlinna, Heli, Olson, Janet E, Olswold, Curtis, Oosterwijk, Jan J C, Osorio, Ana, Peterlongo, Paolo, Peto, Julian, Pharoah, Paul D P, Pylkäs, Katri, Radice, Paolo, Rashid, Muhammad Usman, Rhenius, Valerie, Rudolph, Anja, Sangrajrang, Suleeporn, Sawyer, Elinor J, Schmidt, Marjanka K, Schoemaker, Minouk J, Seynaeve, Caroline, Shah, Mitul, Shen, Chen-Yang, Shrubsole, Martha, Shu, Xiao-Ou, Slager, Susan, Southey, Melissa C, Stram, Daniel O, Swerdlow, Anthony, Teo, Soo H, Tomlinson, Ian, Torres, Diana, Truong, Thérèse, van Asperen, Christi J, van der Kolk, Lizet E, Wang, Qin, Winqvist, Robert, Wu, Anna H, Yu, Jyh-Cherng, Zheng, Wei, Zheng, Ying, Leary, Jennifer, Walker, Logan, Foretova, Lenka, Fostira, Florentia, Claes, Kathleen B M, Varesco, Liliana, Moghadasi, Setareh, Easton, Douglas F, Spurdle, Amanda, Devilee, Peter, Vrieling, Harry, Monteiro, Alvaro N A, Goldgar, David E, Carreira, Aura, Vreeswijk, Maaike P G, and Couch, Fergus J
Abstract: Breast cancer risks conferred by many germline missense variants in the BRCA1 and BRCA2 genes, often referred to as variants of uncertain significance (VUS), have not been established. In this study, associations between 19 BRCA1 and 33 BRCA2 missense substitution variants and breast cancer risk were investigated through a breast cancer case-control study using genotyping data from 38 studies of predominantly European ancestry (41,890 cases and 41,607 controls) and nine studies of Asian ancestry (6,269 cases and 6,624 controls). The BRCA2 c.9104A>C, p.Tyr3035Ser (OR = 2.52; P = 0.04), and BRCA1 c.5096G>A, p.Arg1699Gln (OR = 4.29; P = 0.009) variant were associated with moderately increased risks of breast cancer among Europeans, whereas BRCA2 c.7522G>A, p.Gly2508Ser (OR = 2.68; P = 0.004), and c.8187G>T, p.Lys2729Asn (OR = 1.4; P = 0.004) were associated with moderate and low risks of breast cancer among Asians. Functional characterization of the BRCA2 variants using four quantitative assays showed reduced BRCA2 activity for p.Tyr3035Ser compared with wild-type. Overall, our results show how BRCA2 missense variants that influence protein function can confer clinically relevant, moderately increased risks of breast cancer, with potential implications for risk management guidelines in women with these specific variants. Cancer Res; 77(11); 2789-99. ©2017 AACR.
Published: 2017

30. Variants of Uncertain Significance inBRCA1andBRCA2assessment of in silico analysis and a proposal for communication in genetic counselling

Author: Moghadasi, Setareh, primary, Hofland, Nandy, additional, Wouts, Joyce N, additional, Hogervorst, Frans B L, additional, Wijnen, Juul T, additional, Vreeswijk, Maaike P G, additional, and van Asperen, Christi J, additional
Published: 2012
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31. The BRCA1c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

Author: Moghadasi, Setareh, Meeks, Huong D, Vreeswijk, Maaike PG, Janssen, Linda AM, Borg, Åke, Ehrencrona, Hans, Paulsson-Karlsson, Ylva, Wappenschmidt, Barbara, Engel, Christoph, Gehrig, Andrea, Arnold, Norbert, Hansen, Thomas Van Overeem, Thomassen, Mads, Jensen, Uffe Birk, Kruse, Torben A, Ejlertsen, Bent, Gerdes, Anne-Marie, Pedersen, Inge Søkilde, Caputo, Sandrine M, Couch, Fergus, Hallberg, Emily J, van den Ouweland, Ans MW, CollÅée, Margriet J, Teugels, Erik, Adank, Muriel A, van der Luijt, Rob B, Mensenkamp, Arjen R, Oosterwijk, Jan C, Blok, Marinus J, Janin, Nicolas, Claes, Kathleen BM, Tucker, Kathy, Viassolo, Valeria, Toland, Amanda Ewart, Eccles, Diana E, Devilee, Peter, Van Asperen, Christie J, Spurdle, Amanda B, Goldgar, David E, and GarcÅéóía, Encarna GÅéómez
Abstract: BackgroundWe previously showed that the BRCA1variant c.5096G>A p.Arg1699Gln (R1699Q) was associated with an intermediate risk of breast cancer (BC) and ovarian cancer (OC). This study aimed to assess these cancer risks for R1699Q carriers in a larger cohort, including follow-up of previously studied families, to further define cancer risks and to propose adjusted clinical management of female BRCA1*R1699Q carriers.MethodsData were collected from 129 BRCA1*R1699Q families ascertained internationally by ENIGMA (Evidence-based Network for the Interpretation of Germline Mutant Alleles) consortium members. A modified segregation analysis was used to calculate BC and OC risks. Relative risks were calculated under both monogenic model and major gene plus polygenic model assumptions.ResultsIn this cohort the cumulative risk of BC and OC by age 70 years was 20% and 6%, respectively. The relative risk for developing cancer was higher when using a model that included the effects of both the R1699Q variant and a residual polygenic component compared with monogenic model (for BC 3.67 vs 2.83, and for OC 6.41 vs 5.83).ConclusionOur results confirm that BRCA1*R1699Q confers an intermediate risk for BC and OC. Breast surveillance for female carriers based on mammogram annually from age 40 is advised. Bilateral salpingo-oophorectomy should be considered based on family history.
Published: 2018
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32. Downregulation of Vertebrate Tel (ETV6) and Drosophila Yan Is Facilitated by an Evolutionarily Conserved Mechanism of F-Box-Mediated Ubiquitination

Author: Roukens, M. Guy, primary, Alloul-Ramdhani, Mariam, additional, Moghadasi, Setareh, additional, Op den Brouw, Marjolein, additional, and Baker, David A., additional
Published: 2008
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33. BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

Author: Shimelis, Hermela, Mesman, Romy LS, Von Nicolai, Catharina, Ehlen, Asa, Guidugli, Lucia, Martin, Charlotte, Calléja, Fabienne MGR, Meeks, Huong, Hallberg, Emily, Hinton, Jamie, Lilyquist, Jenna, Hu, Chunling, Aalfs, Cora M, Aittomäki, Kristiina, Andrulis, Irene, Anton-Culver, Hoda, Arndt, Volker, Beckmann, Matthias W, Benitez, Javier, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Borresen-Dale, Anne-Lise, Brauch, Hiltrud, Brennan, Paul, Brenner, Hermann, Broeks, Annegien, Brouwers, Barbara, Brüning, Thomas, Burwinkel, Barbara, Chang-Claude, Jenny, Chenevix-Trench, Georgia, Cheng, Ching-Yu, Choi, Ji-Yeob, Collée, J Margriet, Cox, Angela, Cross, Simon S, Czene, Kamila, Darabi, Hatef, Dennis, Joe, Dörk, Thilo, Dos-Santos-Silva, Isabel, Dunning, Alison M, Fasching, Peter A, Figueroa, Jonine, Flyger, Henrik, García-Closas, Montserrat, Giles, Graham G, Glendon, Gord, Guénel, Pascal, Haiman, Christopher A, Hall, Per, Hamann, Ute, Hartman, Mikael, Hogervorst, Frans B, Hollestelle, Antoinette, Hopper, John L, Ito, Hidemi, Jakubowska, Anna, Kang, Daehee, Kosma, Veli-Matti, Kristensen, Vessela, Lai, Kah-Nyin, Lambrechts, Diether, Marchand, Loic Le, Li, Jingmei, Lindblom, Annika, Lophatananon, Artitaya, Lubinski, Jan, Machackova, Eva, Mannermaa, Arto, Margolin, Sara, Marme, Frederik, Matsuo, Keitaro, Miao, Hui, Michailidou, Kyriaki, Milne, Roger L, Muir, Kenneth, Neuhausen, Susan L, Nevanlinna, Heli, Olson, Janet E, Olswold, Curtis, Oosterwijk, Jan JC, Osorio, Ana, Peterlongo, Paolo, Peto, Julian, Pharoah, Paul DP, Pylkäs, Katri, Radice, Paolo, Rashid, Muhammad Usman, Rhenius, Valerie, Rudolph, Anja, Sangrajrang, Suleeporn, Sawyer, Elinor J, Schmidt, Marjanka K, Schoemaker, Minouk J, Seynaeve, Caroline, Shah, Mitul, Shen, Chen-Yang, Shrubsole, Martha, Shu, Xiao-Ou, Slager, Susan, Southey, Melissa C, Stram, Daniel O, Swerdlow, Anthony, Teo, Soo H, Tomlinson, Ian, Torres, Diana, Truong, Thérèse, Van Asperen, Christi J, Van Der Kolk, Lizet E, Wang, Qin, Winqvist, Robert, Wu, Anna H, Yu, Jyh-Cherng, Zheng, Wei, Zheng, Ying, Leary, Jennifer, Walker, Logan, Foretova, Lenka, Fostira, Florentia, Claes, Kathleen BM, Varesco, Liliana, Moghadasi, Setareh, Easton, Douglas F, Spurdle, Amanda, Devilee, Peter, Vrieling, Harry, Monteiro, Alvaro NA, Goldgar, David E, Carreira, Aura, Vreeswijk, Maaike PG, Couch, Fergus J, For KConFab/AOCS Investigators, and For NBCS Collaborators
Subjects: BRCA2 Protein, Risk, Genotype, Mutation, Missense, Breast Neoplasms, 3. Good health, Mice, Amino Acid Substitution, Case-Control Studies, Animals, Humans, Female, skin and connective tissue diseases, Germ-Line Mutation, Aged
Abstract: Breast cancer risks conferred by many germline missense variants in the BRCA1 and BRCA2 genes, often referred to as variants of uncertain significance (VUS), have not been established. In this study, associations between 19 BRCA1 and 33 BRCA2 missense substitution variants and breast cancer risk were investigated through a breast cancer case-control study using genotyping data from 38 studies of predominantly European ancestry (41,890 cases and 41,607 controls) and nine studies of Asian ancestry (6,269 cases and 6,624 controls). The BRCA2 c.9104A>C, p.Tyr3035Ser (OR = 2.52; P = 0.04), and BRCA1 c.5096G>A, p.Arg1699Gln (OR = 4.29; P = 0.009) variant were associated with moderately increased risks of breast cancer among Europeans, whereas BRCA2 c.7522G>A, p.Gly2508Ser (OR = 2.68; P = 0.004), and c.8187G>T, p.Lys2729Asn (OR = 1.4; P = 0.004) were associated with moderate and low risks of breast cancer among Asians. Functional characterization of the BRCA2 variants using four quantitative assays showed reduced BRCA2 activity for p.Tyr3035Ser compared with wild-type. Overall, our results show how BRCA2 missense variants that influence protein function can confer clinically relevant, moderately increased risks of breast cancer, with potential implications for risk management guidelines in women with these specific variants. Cancer Res; 77(11); 2789-99. ©2017 AACR.

34. BRCA2 hypomorphic missense variants confer moderate risks of breast cancer

Author: Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana, Shimelis, Hermela, Mesman, Romy L. S., Von Nicolai, Catharina, Ehlen, Asa, Guidugli, Lucia, Martin, Charlotte, Calleja, Fabienne M. G. R., Meeks, Huong, Hallberg, Emily, Hinton, Jamie, Lilyquist, Jenna, Hu, Chunling, Aalfs, Cora M., Aittomaki, Kristiina, Andrulis, Irene, Anton-Culver, Hoda, Arndt, Volker, Beckmann, Matthias W., Benitez, Javier, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Borresen-Dale, Anne-Lise, Brauch, Hiltrud, Brennan, Paul, Brenner, Hermann, Broeks, Annegien, Brouwers, Barbara, Bruning, Thomas, Burwinkel, Barbara, Chang-Claude, Jenny, Chenevix-Trench, Georgia, Cheng, Ching-Yu, Choi, Ji-Yeob, Collee, J. Margriet, Cox, Angela, Cross, Simon S., Czene, Kamila, Darabi, Hatef, Dennis, Joe, Dork, Thilo, Dos-Santos-Silva, Isabel, Dunning, Alison M., Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, Garcia-Closas, Montserrat, Giles, Graham G., Glendon, Gord, Guenel, Pascal, Haiman, Christopher A., Hall, Per, Hamann, Ute, Hartman, Mikael, Hogervorst, Frans B., Hollestelle, Antoinette, Hopper, John L., Ito, Hidemi, Jakubowska, Anna, Kang, Daehee, Kosma, Veli-Matti, Kristensen, Vessela, Lai, Kah-Nyin, Lambrechts, Diether, Le Marchand, Loic, Li, Jingmei, Lindblom, Annika, Lophatananon, Artitaya, Lubinski, Jan, Machackova, Eva, Mannermaa, Arto, Margolin, Sara, Marme, Frederik, Matsuo, Keitaro, Miao, Hui, Michailidou, Kyriaki, Milne, Roger L., Muir, Kenneth, Neuhausen, Susan L., Nevanlinna, Heli, Olson, Janet E., Olswold, Curtis, Oosterwijk, Jan J. C., Osorio, Ana, Peterlongo, Paolo, Peto, Julian, Pharoah, Pauld D. P., Pylkas, Katri, Radice, Paolo, Rashid, Muhammad Usman, Rhenius, Valerie, Rudolph, Anja, Sangrajrang, Suleeporn, Sawyer, Elinor J., Schmidt, Marjanka K., Schoemaker, Minouk J., Seynaeve, Caroline, Shah, Mitul, Shen, Chen-Yang, Shrubsole, Martha, Shu, Xiao-Ou, Slager, Susan, Southey, Melissa C., Stram, Daniel O., Swerdlow, Anthony, Teo, Soo H., Tomlinson, Ian, Torres, Diana, Truong, Therese, Van Asperen, Christi J., Van der Kolk, Lizet E., Wang, Qin, Winqvist, Robert, Wu, Anna H., Yu, Jyh-Cherng, Zheng, Wei, Zheng, Ying, Leary, Jennifer, Walker, Logan, Foretova, Lenka, Fostira, Florentia, Claes, Kathleen B. M., Varesco, Liliana, Moghadasi, Setareh, Easton, Douglas F., Spurdle, Amanda, Devilee, Peter, Vrieling, Harry, Monteiro, Alvaro N. A., Goldgar, David E., Carreira, Aura, Vreeswijk, Maaike P. G., Couch, Fergus J., Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana, Shimelis, Hermela, Mesman, Romy L. S., Von Nicolai, Catharina, Ehlen, Asa, Guidugli, Lucia, Martin, Charlotte, Calleja, Fabienne M. G. R., Meeks, Huong, Hallberg, Emily, Hinton, Jamie, Lilyquist, Jenna, Hu, Chunling, Aalfs, Cora M., Aittomaki, Kristiina, Andrulis, Irene, Anton-Culver, Hoda, Arndt, Volker, Beckmann, Matthias W., Benitez, Javier, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Borresen-Dale, Anne-Lise, Brauch, Hiltrud, Brennan, Paul, Brenner, Hermann, Broeks, Annegien, Brouwers, Barbara, Bruning, Thomas, Burwinkel, Barbara, Chang-Claude, Jenny, Chenevix-Trench, Georgia, Cheng, Ching-Yu, Choi, Ji-Yeob, Collee, J. Margriet, Cox, Angela, Cross, Simon S., Czene, Kamila, Darabi, Hatef, Dennis, Joe, Dork, Thilo, Dos-Santos-Silva, Isabel, Dunning, Alison M., Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, Garcia-Closas, Montserrat, Giles, Graham G., Glendon, Gord, Guenel, Pascal, Haiman, Christopher A., Hall, Per, Hamann, Ute, Hartman, Mikael, Hogervorst, Frans B., Hollestelle, Antoinette, Hopper, John L., Ito, Hidemi, Jakubowska, Anna, Kang, Daehee, Kosma, Veli-Matti, Kristensen, Vessela, Lai, Kah-Nyin, Lambrechts, Diether, Le Marchand, Loic, Li, Jingmei, Lindblom, Annika, Lophatananon, Artitaya, Lubinski, Jan, Machackova, Eva, Mannermaa, Arto, Margolin, Sara, Marme, Frederik, Matsuo, Keitaro, Miao, Hui, Michailidou, Kyriaki, Milne, Roger L., Muir, Kenneth, Neuhausen, Susan L., Nevanlinna, Heli, Olson, Janet E., Olswold, Curtis, Oosterwijk, Jan J. C., Osorio, Ana, Peterlongo, Paolo, Peto, Julian, Pharoah, Pauld D. P., Pylkas, Katri, Radice, Paolo, Rashid, Muhammad Usman, Rhenius, Valerie, Rudolph, Anja, Sangrajrang, Suleeporn, Sawyer, Elinor J., Schmidt, Marjanka K., Schoemaker, Minouk J., Seynaeve, Caroline, Shah, Mitul, Shen, Chen-Yang, Shrubsole, Martha, Shu, Xiao-Ou, Slager, Susan, Southey, Melissa C., Stram, Daniel O., Swerdlow, Anthony, Teo, Soo H., Tomlinson, Ian, Torres, Diana, Truong, Therese, Van Asperen, Christi J., Van der Kolk, Lizet E., Wang, Qin, Winqvist, Robert, Wu, Anna H., Yu, Jyh-Cherng, Zheng, Wei, Zheng, Ying, Leary, Jennifer, Walker, Logan, Foretova, Lenka, Fostira, Florentia, Claes, Kathleen B. M., Varesco, Liliana, Moghadasi, Setareh, Easton, Douglas F., Spurdle, Amanda, Devilee, Peter, Vrieling, Harry, Monteiro, Alvaro N. A., Goldgar, David E., Carreira, Aura, Vreeswijk, Maaike P. G., and Couch, Fergus J.

35. Correction: Functional Categorization of BRCA1 Variants of Uncertain Clinical Significance in Homologous Recombination Repair Complementation Assays.

Author: Bouwman P, van der Heijden I, van der Gulden H, de Bruijn R, Braspenning ME, Moghadasi S, Wessels LFA, Vreeswijk MPG, and Jonkers J
Published: 2022
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36. Case series, chemotherapy-induced cardiomyopathy: mind the family history!

Author: Moghadasi S, Fijn R, Beeres SLMA, Bikker H, Jongbloed JDH, Josephus Jitta D, Kroep JR, Lekanne Deprez RH, Vos YJ, de Vreede MJM, Antoni ML, and Barge-Schaapveld DQCM
Abstract: Background: Cardiotoxicity presenting as cardiomyopathy is a common side effect in cancer treatment especially with anthracyclines. The role of genetic predisposition is still being investigated., Case Summary: Four unrelated patients with a familial burden for cardiac disease, who developed cardiomyopathy after anthracycline treatment are presented. Case 1 received chemotherapy for breast cancer and developed a dilated left ventricle just after treatment. Her father had died unexpectedly while being screened for heart transplant. Case 2 was known with a family history of sudden cardiac death prior to her breast cancer diagnosis. She received anthracycline-containing chemotherapy treatment twice in 5 years due to recurrence of breast cancer. During that period, two brothers developed a cardiomyopathy. Eighteen years later, a genetic predisposition for cardiomyopathy was ascertained and at screening an asymptomatic non-ischaemic cardiomyopathy was established. Case 3 was diagnosed with a dilated cardiomyopathy 1 year after chemotherapy treatment for breast cancer. Her mother had developed a dilated cardiomyopathy several years before. Case 4 received chemotherapy treatment for Non-Hodgkin's lymphoma and developed dilated cardiomyopathy 1 year later. His brother died from congestive heart failure which he developed after chemotherapy for Non-Hodgkin's lymphoma and a grandmother had died suddenly during child delivery. In all four cases, genetic screening showed (likely) pathogenic variants in cardiomyopathy-associated genes., Discussion: Current guidelines recommend cardiac evaluation in cancer patients receiving chemotherapy based on the presence of cardiovascular risk factors at the start of treatment. This series emphasizes the importance of including a thorough family history in this process., (© The Author(s) 2021. Published by Oxford University Press on behalf of the European Society of Cardiology.)
Published: 2021
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37. Functional Categorization of BRCA1 Variants of Uncertain Clinical Significance in Homologous Recombination Repair Complementation Assays.

Author: Bouwman P, van der Heijden I, van der Gulden H, de Bruijn R, Braspenning ME, Moghadasi S, Wessels LFA, Vreeswijk MPG, and Jonkers J
Subjects: Animals, BRCA1 Protein deficiency, Breast Neoplasms diagnosis, Breast Neoplasms epidemiology, Datasets as Topic, Female, Gene Knock-In Techniques, Genetic Counseling methods, Genetic Predisposition to Disease, Humans, Mice, Mouse Embryonic Stem Cells, Mutagenesis, Site-Directed, Mutation, Missense, Ovarian Neoplasms diagnosis, Ovarian Neoplasms epidemiology, Sensitivity and Specificity, Sequence Deletion, BRCA1 Protein genetics, Breast Neoplasms genetics, Genetic Testing methods, Ovarian Neoplasms genetics, Recombinational DNA Repair
Abstract: Purpose: Because BRCA1 is a high-risk breast/ovarian cancer susceptibility gene, BRCA1 sequence variants of uncertain clinical significance (VUS) complicate genetic counseling. As most VUS are rare, reliable classification based on clinical and genetic data is often impossible. However, all pathogenic BRCA1 variants analyzed result in defective homologous recombination DNA repair (HRR). Thus, BRCA1 VUS may be categorized based on their functional impact on this pathway., Experimental Design: Two hundred thirty-eight BRCA1 VUS-comprising most BRCA1 VUS known in the Netherlands and Belgium-were tested for their ability to complement Brca1- deficient mouse embryonic stem cells in HRR, using cisplatin and olaparib sensitivity assays and a direct repeat GFP (DR-GFP) HRR assay. Assays were validated using 25 known benign and 25 known pathogenic BRCA1 variants. For assessment of pathogenicity by a multifactorial likelihood analysis method, we collected clinical and genetic data for functionally deleterious VUS and VUS occurring in three or more families., Results: All three assays showed 100% sensitivity and specificity (95% confidence interval, 83%-100%). Out of 238 VUS, 45 showed functional defects, 26 of which were deleterious in all three assays. For 13 of these 26 variants, we could calculate the probability of pathogenicity using clinical and genetic data, resulting in the identification of 7 (likely) pathogenic variants., Conclusions: We have functionally categorized 238 BRCA1 VUS using three different HRR-related assays. Classification based on clinical and genetic data alone for a subset of these variants confirmed the high sensitivity and specificity of our functional assays., (©2020 American Association for Cancer Research.)
Published: 2020
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