Efficacy of chemotherapy in patients with HR+/HER2–Invasive lobular breast cancer

Autor: Marita Yaghi, Nadeem Bilani, Barbara Dominguez, Maroun Bou Zerdan, Hong Li, Diana Saravia, Elizabeth Stone, Zeina Nahleh

Publikováno v: Cancer Treatment and Research Communications, Vol 34, Iss , Pp 100666- (2023)

Introduction: : Invasive Lobular Breast Cancer (ILC) harbors unique clinicopathologic features. Data on optimal treatment modalities focusing on ILC remain scarce. We aim to investigate the benefit of chemotherapy in early-stage hormone receptor-posi

Externí odkaz: https://doaj.org/article/8c93816c4a9b416d9972d96451f810e3

Polygenic risk scores for prediction of breast cancer risk in women of African ancestry: a cross-ancestry approach

Autor: Gao, Guimin, Zhao, Fangyuan, Ahearn, Thomas U, Lunetta, Kathryn L, Troester, Melissa A, Du, Zhaohui, Ogundiran, Temidayo O, Ojengbede, Oladosu, Blot, William, Nathanson, Katherine L, Domchek, Susan M, Nemesure, Barbara, Hennis, Anselm, Ambs, Stefan, McClellan, Julian, Nie, Mark, Bertrand, Kimberly, Zirpoli, Gary, Yao, Song, Olshan, Andrew F, Bensen, Jeannette T, Bandera, Elisa V, Nyante, Sarah, Conti, David V, Press, Michael F, Ingles, Sue A, John, Esther M, Bernstein, Leslie, Hu, Jennifer J, Deming-Halverson, Sandra L, Chanock, Stephen J, Ziegler, Regina G, Rodriguez-Gil, Jorge L, Sucheston-Campbell, Lara E, Sandler, Dale P, Taylor, Jack A, Kitahara, Cari M, O’Brien, Katie M, Bolla, Manjeet K, Dennis, Joe, Dunning, Alison M, Easton, Douglas F, Michailidou, Kyriaki, Pharoah, Paul D P, Wang, Qin, Figueroa, Jonine, Biritwum, Richard, Adjei, Ernest, Wiafe, Seth, Ambrosone, Christine B, Zheng, Wei, Olopade, Olufunmilayo I, García-Closas, Montserrat, Palmer, Julie R, Haiman, Christopher A, Huo, Dezheng

Publikováno v: Hum Mol Genet
Gao, G, Zhao, F, Ahearn, T U, Lunetta, K L, Troester, M A, Du, Z, Ogundiran, T O, Ojengbede, O, Blot, W, Nathanson, K L, Domchek, S M, Nemesure, B, Hennis, A, Ambs, S, Mcclellan, J, Nie, M, Bertrand, K, Zirpoli, G, Yao, S, Olshan, A F, Bensen, J T, Bandera, E V, Nyante, S, Conti, D V, Press, M F, Ingles, S A, John, E M, Bernstein, L, Hu, J J, Deming-halverson, S L, Chanock, S J, Ziegler, R G, Rodriguez-gil, J L, Sucheston-campbell, L E, Sandler, D P, Taylor, J A, Kitahara, C M, O’brien, K M, Bolla, M K, Dennis, J, Dunning, A M, Easton, D F, Michailidou, K, Pharoah, P D P, Wang, Q, Figueroa, J, Biritwum, R, Adjei, E, Wiafe, S, Ambrosone, C B, Zheng, W, Olopade, O I, García-closas, M, Palmer, J R, Haiman, C A & Huo, D 2022, ' Polygenic Risk Scores for Prediction of Breast Cancer Risk in Women of African Ancestry : a Cross-Ancestry Approach ', Human Molecular Genetics, vol. 31, no. 18, pp. 3133-3143 . https://doi.org/10.1093/hmg/ddac102

Polygenic risk scores (PRSs) are useful for predicting breast cancer risk, but the prediction accuracy of existing PRSs in women of African ancestry (AA) remains relatively low. We aim to develop optimal PRSs for the prediction of overall and estroge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e5190aabf731b674db5f93e178b8d40
https://doi.org/10.1093/hmg/ddac102

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

Autor: Hakkaart, Christopher, Pearson, John F., Marquart, Louise, Dennis, Joe, Wiggins, George A. R., Barnes, Daniel R., Robinson, Bridget A., Mace, Peter D., Aittomäki, Kristiina, Andrulis, Irene L., Arun, Banu K., Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B., Belhadj, Sami, Berger, Lieke, Blok, Marinus J., Boonen, Susanne E., Borde, Julika, Bradbury, Angela R., Brunet, Joan, Buys, Saundra S., Caligo, Maria A., Campbell, Ian, Chung, Wendy K., Claes, Kathleen, Collonge-Rame, Marie-Agnès, Cook, Jackie, Cosgrove, Casey, Couch, Fergus J., Daly, Mary B., Dandiker, Sita, Davidson, Rosemarie, de la Hoya, Miguel, de Putter, Robin, Delnatte, Capucine, Dhawan, Mallika, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M., Donaldson, Alan, Eason, Jacqueline, Easton, Douglas F., Ehrencrona, Hans, Engel, Christoph, Evans, D. Gareth, Faust, Ulrike, Feliubadaló, Lidia, Fostira, Florentia, Friedman, Eitan, Frone, Megan, Frost, Debra, Garber, Judy, Gayther, Simon A., Gehrig, Andrea, Gesta, Paul, Godwin, Andrew K., Goldgar, David E., Greene, Mark H., Hahnen, Eric, Hake, Christopher R., Hamann, Ute, Hansen, Thomas V. O., Hauke, Jan, Hentschel, Julia, Herold, Natalie, Honisch, Ellen, Hulick, Peter J., Imyanitov, Evgeny N., van Engelen, Klaartje, Wevers, Marijke R., Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, John, Esther M., Joseph, Vijai, Karlan, Beth Y., Kemp, Zoe, Kirk, Judy, Konstantopoulou, Irene, Koudijs, Marco, Kwong, Ava, Laitman, Yael, Lalloo, Fiona, Lasset, Christine, Lautrup, Charlotte, Lazaro, Conxi, Legrand, Clémentine, Leslie, Goska, Lesueur, Fabienne, Mai, Phuong L., Manoukian, Siranoush, Mari, Véronique, Martens, John W. M., McGuffog, Lesley, Mebirouk, Noura, Meindl, Alfons, Miller, Austin, Montagna, Marco, Moserle, Lidia, Mouret-Fourme, Emmanuelle, Musgrave, Hannah, Nambot, Sophie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Nguyen-Dumont, Tu, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Osorio, Ana, Ott, Claus-Eric, Park, Sue K., Parsons, Michael T., Pedersen, Inge Sokilde, Peixoto, Ana, Perez-Segura, Pedro, Peterlongo, Paolo, Pocza, Timea, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Rodriguez, Gustavo C., Rønlund, Karina, Rosenberg, Efraim H., Rossing, Maria, Schmutzler, Rita K., Shah, Payal D., Sharif, Saba, Sharma, Priyanka, Side, Lucy E., Simard, Jacques, Singer, Christian F., Snape, Katie, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Thomassen, Mads, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Trainer, Alison H., Tripathi, Vishakha, Tung, Nadine, van Rensburg, Elizabeth J., Vega, Ana, Viel, Alessandra, Walker, Lisa, Weitzel, Jeffrey N., Wevers, Marike R., Chenevix-Trench, Georgia, Spurdle, Amanda B., Antoniou, Antonis C., Walker, Logan C.

Publikováno v: Hakkaart, C, Pearson, J F, Marquart, L, Dennis, J, Wiggins, G A R, Barnes, D R, Robinson, B A, Mace, P D, Aittomäki, K, Andrulis, I L, Arun, B K, Azzollini, J, Balmaña, J, Barkardottir, R B, Belhadj, S, Berger, L, Blok, M J, Boonen, S E, Borde, J, Bradbury, A R, Brunet, J, Buys, S S, Caligo, M A, Campbell, I, Chung, W K, Claes, K B M, GEMO Study Collaborators, EMBRACE Collaborators, Collonge-Rame, M A, Cook, J, Cosgrove, C, Couch, F J, Daly, M B, Dandiker, S, Davidson, R, de la Hoya, M, de Putter, R, Delnatte, C, Dhawan, M, Diez, O, Ding, Y C, Domchek, S M, Donaldson, A, Eason, J, Easton, D F, Ehrencrona, H, Engel, C, Evans, D G, Faust, U, Hansen, T V O, SWE-BRCA Investigators, KConFab Investigators, HEBON Investigators, Lautrup, C & Pedersen, I S 2022, ' Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers ', Communications Biology, vol. 5, 1061 . https://doi.org/10.1038/s42003-022-03978-6
Hakkaart, C, Pearson, J F, Marquart, L, Dennis, J, Wiggins, G A R, Barnes, D R, Robinson, B A, Mace, P D, Aittomäki, K, Andrulis, I L, Arun, B K, Azzollini, J, Balmaña, J, Barkardottir, R B, Belhadj, S, Berger, L, Blok, M J, Boonen, S E, Borde, J, Bradbury, A R, Brunet, J, Buys, S S, Caligo, M A, Campbell, I, Chung, W K, Claes, K B M, Collonge-Rame, M-A, Cook, J, Cosgrove, C, Couch, F J, Daly, M B, Dandiker, S, Davidson, R, de la Hoya, M, de Putter, R, Delnatte, C, Dhawan, M, Diez, O, Ding, Y C, Domchek, S M, Donaldson, A, Eason, J, Easton, D F, Ehrencrona, H, Engel, C, Evans, D G, Faust, U, Feliubadaló, L, Fostira, F, Friedman, E, Frone, M, Frost, D, Garber, J, Gayther, S A, Gehrig, A, Gesta, P, Godwin, A K, Goldgar, D E, Greene, M H, Hahnen, E, Hake, C R, Hamann, U, Hansen, T V O, Hauke, J, Hentschel, J, Herold, N, Honisch, E, Hulick, P J, Imyanitov, E N, Isaacs, C, Izatt, L, Izquierdo, A, Jakubowska, A, James, P A, Janavicius, R, John, E M, Joseph, V, Karlan, B Y, Kemp, Z, Kirk, J, Konstantopoulou, I, Koudijs, M, Kwong, A, Laitman, Y, Lalloo, F, Lasset, C, Lautrup, C, Lazaro, C, Legrand, C, Leslie, G, Lesueur, F, Mai, P L, Manoukian, S, Mari, V, Martens, J W M, McGuffog, L, Mebirouk, N, Meindl, A, Miller, A, Montagna, M, Moserle, L, Mouret-Fourme, E, Musgrave, H, Nambot, S, Nathanson, K L, Neuhausen, S L, Nevanlinna, H, Yie, J N Y, Nguyen-Dumont, T, Nikitina-Zake, L, Offit, K, Olah, E, Olopade, O I, Osorio, A, Ott, C-E, Park, S K, Parsons, M T, Pedersen, I S, Peixoto, A, Perez-Segura, P, Peterlongo, P, Pocza, T, Radice, P, Ramser, J, Rantala, J, Rodriguez, G C, Rønlund, K, Rosenberg, E H, Rossing, M, Schmutzler, R K, Shah, P D, Sharif, S, Sharma, P, Side, L E, Simard, J, Singer, C F, Snape, K, Steinemann, D, Stoppa-Lyonnet, D, Sutter, C, Tan, Y Y, Teixeira, M R, Teo, S H, Thomassen, M, Thull, D L, Tischkowitz, M, Toland, A E, Trainer, A H, Tripathi, V, Tung, N, van Engelen, K, van Rensburg, E J, Vega, A, Viel, A, Walker, L, Weitzel, J N, Wevers, M R, Chenevix-Trench, G, Spurdle, A B, Antoniou, A C, Walker, L C & GEMO Study Collaborators 2022, ' Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers ', Communications Biology, vol. 5, no. 1, 1061, pp. 1061 . https://doi.org/10.1038/s42003-022-03978-6
Communications Biology, 5(1):1061. Nature Publishing Group
Hakkaart, C, Pearson, J F, Marquart, L, Dennis, J, Wiggins, G A R, Barnes, D R, Robinson, B A, Mace, P D, Aittomäki, K, Andrulis, I L, Arun, B K, Azzollini, J, Balmaña, J, Barkardottir, R B, Belhadj, S, Berger, L, Blok, M J, Boonen, S E, Borde, J, Bradbury, A R, Brunet, J, Buys, S S, Caligo, M A, Campbell, I, Chung, W K, Claes, K B M, Collonge-Rame, M-A, Cook, J, Cosgrove, C, Couch, F J, Daly, M B, Dandiker, S, Davidson, R, de la Hoya, M, de Putter, R, Delnatte, C, Dhawan, M, Diez, O, Ding, Y C, Domchek, S M, Donaldson, A, Eason, J, Easton, D F, Ehrencrona, H, Engel, C, Evans, D G, Faust, U, Feliubadaló, L, Fostira, F, Hansen, T V O, Rossing, C M, GEMO Study Collaborators, EMBRACE Collaborators, SWE-BRCA Investigators, kConFab Investigators & HEBON Investigators 2022, ' Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers ', Communications Biology, vol. 5, 1061 . https://doi.org/10.1038/s42003-022-03978-6
COMMUNICATIONS BIOLOGY
Scientia
GEMO Study Collaborators, EMBRACE Collaborators, SWE-BRCA Investigators, KConFab Investigators & HEBON Investigators 2022, ' Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers ', Communications Biology, vol. 5, no. 1, pp. 1061 . https://doi.org/10.1038/s42003-022-03978-6
Communications biology, Berlin : Nature Portfolio, 2022, vol. 5, no. 1, art. no. 1061, p. [1-15]
Communications Biology, 5(1). Springer Nature
Communications biology, 5:1061. Nature Publishing Group

The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analysis of CNVs in 15,342 BRCA1 and 10,740

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63f076631390a033b9bcb1c10313c400
https://pure.au.dk/portal/da/publications/copy-number-variants-as-modifiers-of-breast-cancer-risk-for-brca1brca2-pathogenic-variant-carriers(c77e86f3-7589-478f-901e-072c531de0e5).html

Breast cancer risks associated with missense variants in breast cancer susceptibility genes

Autor: Dorling, L., Carvalho, S., Allen, J., Parsons, M.T., Fortuno, C., Gonzalez-Neira, A., Heijl, S.M., Adank, M.A., Ahearn, T.U., Andrulis, I.L., Auvinen, P., Becher, H., Beckmann, M.W., Behrens, S., Bermisheva, M., Bogdanova, N.V., Bojesen, S.E., Bolla, M.K., Bremer, M., Briceno, I., Camp, N.J., Campbell, A., Castelao, J.E., Chang-Claude, J., Chanock, S.J., Chenevix-Trench, G., Collee, J.M., Czene, K., Dennis, J., Dork, T., Eriksson, M., Evans, D.G., Fasching, P.A., Figueroa, J., Flyger, H., Gabrielson, M., Gago-Dominguez, M., Garcia-Closas, M., Giles, G.G., Glendon, G., Guenel, P., Gundert, M., Hadjisavvas, A., Hahnen, E., Hall, P., Hamann, U., Harkness, E.F., Hartman, M., Hogervorst, F.B.L., Hollestelle, A., Hoppe, R., Howell, A., Jakubowska, A., Jung, A., Khusnutdinova, E., Kim, S.W., Ko, Y.D., Kristensen, V.N., Lakeman, I.M.M., Li, J.M., Lindblom, A., Loizidou, M.A., Lophatananon, A., Lubinski, J., Luccarini, C., Madsen, M.J., Mannermaa, A., Manoochehri, M., Margolin, S., Mavroudis, D., Milne, R.L., Taib, N.A.M., Muir, K., Nevanlinna, H., Newman, W.G., Oosterwijk, J.C., Park, S.K., Peterlongo, P., Radice, P., Saloustros, E., Sawyer, E.J., Schmutzler, R.K., Shah, M.T., Sim, X., Southey, M.C., Surowy, H., Suvanto, M., Tomlinson, I., Torres, D., Truong, T., Asperen, C.J. van, Waltes, R., Wang, Q., Yang, X.H.R., Pharoah, P.D.P., Schmidt, M.K., Benitez, J., Vroling, B., Dunning, A.M., Teo, S.H., Kvist, A., Hoya, M. de la, Devilee, P., Spurdle, A.B., Vreeswijk, M.P.G., Easton, D.F., NBCS Collaborators, KConFab Investigators, SGBCC Investigators

Publikováno v: Genome Medicine, 14(1). BMC
Genome Medicine, 14(1):51. BioMed Central Ltd.
Dorling, L, Carvalho, S, Allen, J, Parsons, M T, Fortuno, C, González-Neira, A, Heijl, S M, Adank, M A, Ahearn, T U, Andrulis, I L, Auvinen, P, Becher, H, Beckmann, M W, Behrens, S, Bermisheva, M, Bogdanova, N V, Bojesen, S E, Bolla, M K, Bremer, M, Briceno, I, Camp, N J, Campbell, A, Castelao, J E, Chang-Claude, J, Chanock, S J, Chenevix-Trench, G, Collée, J M, Czene, K, Dennis, J, Dörk, T, Eriksson, M, Evans, D G, Fasching, P A, Figueroa, J, Flyger, H, Gabrielson, M, Gago-Dominguez, M, García-Closas, M, Giles, G G, Glendon, G, Guénel, P, Gündert, M, Hadjisavvas, A, Hahnen, E, Hall, P, Hamann, U, Harkness, E F, Hartman, M, Hogervorst, F B L, Hollestelle, A, Hoppe, R, Howell, A, Jakubowska, A, Jung, A, Khusnutdinova, E, Kim, S-W, Ko, Y-D, Kristensen, V N, Lakeman, I M M, Li, J, Lindblom, A, Loizidou, M A, Lophatananon, A, Lubiński, J, Luccarini, C, Madsen, M J, Mannermaa, A, Manoochehri, M, Margolin, S, Mavroudis, D, Milne, R L, Taib, N A M, Muir, K, Nevanlinna, H, Newman, W G, Oosterwijk, J C, Park, S K, Peterlongo, P, Radice, P, Saloustros, E, Sawyer, E J, Schmutzler, R K, Shah, M, Sim, X, Southey, M C, Surowy, H, Suvanto, M, Tomlinson, I, Torres, D, Truong, T, van Asperen, C J, Waltes, R, Wang, Q, Yang, X R, Pharoah, P D P, Schmidt, M K, Benitez, J, Vroling, B, Dunning, A M, Teo, S H, Kvist, A, de la Hoya, M, Devilee, P, Spurdle, A B, Vreeswijk, M P G & Easton, D F 2022, ' Breast cancer risks associated with missense variants in breast cancer susceptibility genes ', Genome Medicine, vol. 14, 51 . https://doi.org/10.1186/s13073-022-01052-8
Genome Med. 14:51 (2022)
Genome medicine, 14:51. BMC
2022, ' Breast cancer risks associated with missense variants in breast cancer susceptibility genes ', Genome Medicine, vol. 14, no. 1, 51, pp. 51 . https://doi.org/10.1186/s13073-022-01052-8
Genome Medicine
Genome Medicine, 2022, 14 (1), pp.51. ⟨10.1186/s13073-022-01052-8⟩

Background Protein truncating variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2 are associated with increased breast cancer risk, but risks associated with missense variants in these genes are uncertain. Methods We analyzed data on 59,639 breast cancer

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6c185147962665a775ec9e902da9f70
http://hdl.handle.net/1887/3563684

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