المؤلفون: Nyegaard, Mette, Rendtorff, Nanna D., Nielsen, Morten S., Corydon, Thomas J., Demontis, Ditte, Starnawska, Anna, Hedemand, Anne, Buniello, Annalisa, Niola, Francesco, Overgaard, Michael T., Leal, Suzanne M., Ahmad, Wasim, Wikman, Friedrik P., Petersen, Kirsten B., Crüger, Dorthe G., Oostrik, Jaap, Kremer, Hannie, Tommerup, Niels, Frödin, Morten, Steel, Karen P., Tranebjærg, Lisbeth, Børglum, Anders D.

المصدر: Nyegaard , M , Rendtorff , N D , Nielsen , M S , Corydon , T J , Demontis , D , Starnawska , A , Hedemand , A , Buniello , A , Niola , F , Overgaard , M T , Leal , S M , Ahmad , W , Wikman , F P , Petersen , K B , Crüger , D G , Oostrik , J , Kremer , H , Tommerup , N , Frödin , M , Steel , K P , Tranebjærg , L & Børglum , A D 2015 , ....

الوصف: Nonsyndromic hearing impairment (NSHI) is a highly heterogeneous condition with more than eighty known causative genes. However, in the clinical setting, a large number of NSHI families have unexplained etiology, suggesting that there are many more genes to be identified. In this study we used SNP-based linkage analysis and follow up microsatellite markers to identify a novel locus (DFNA66) on chromosome 6q15-21 (LOD 5.1) in a large Danish family with dominantly inherited NSHI. By locus specific capture and next-generation sequencing, we identified a c.574C>T heterozygous nonsense mutation (p.R192*) in CD164. This gene encodes a 197 amino acid transmembrane sialomucin (known as endolyn, MUC-24 or CD164), which is widely expressed and involved in cell adhesion and migration. The mutation segregated with the phenotype and was absent in 1200 Danish control individuals and in databases with whole-genome and exome sequence data. The predicted effect of the mutation was a truncation of the last six C-terminal residues of the cytoplasmic tail of CD164, including a highly conserved canonical sorting motif (YXXФ). In whole blood from an affected individual, we found by RT-PCR both the wild-type and the mutated transcript suggesting that the mutant transcript escapes nonsense mediated decay. Functional studies in HEK cells demonstrated that the truncated protein was almost completely retained on the plasma cell membrane in contrast to the wild-type protein, which targeted primarily to the endo-lysosomal compartments, implicating failed endocytosis as a possible disease mechanism. In the mouse ear, we found CD164 expressed in the inner and outer hair cells of the organ of Corti, as well as in other locations in the cochlear duct. In conclusion, we have identified a new DFNA locus located on chromosome 6q15-21 and implicated CD164 as a novel gene for hearing impairment.

الإتاحة: https://doi.org/10.1371/journal.pgen.1005386Test
https://kclpure.kcl.ac.uk/portal/en/publications/d0688a5e-e791-407d-9d58-352f14ad891fTest
http://www.scopus.com/inward/record.url?scp=84938775191&partnerID=8YFLogxKTest

المؤلفون: Nyegaard, Mette, Rendtorff, Nanna D., Nielsen, Morten S., Corydon, Thomas J., Demontis, Ditte, Starnawska, Anna, Hedemand, Anne, Buniello, Annalisa, Niola, Francesco, Overgaard, Michael T., Leal, Suzanne M., Ahmad, Wasim, Wikman, Friedrik P., Petersen, Kirsten B., Crüger, Dorthe G., Oostrik, Jaap, Kremer, Hannie, Tommerup, Niels, Frödin, Morten, Steel, Karen P., Tranebjærg, Lisbeth, Børglum, Anders D.

المصدر: Nyegaard , M , Rendtorff , N D , Nielsen , M S , Corydon , T J , Demontis , D , Starnawska , A , Hedemand , A , Buniello , A , Niola , F , Overgaard , M T , Leal , S M , Ahmad , W , Wikman , F P , Petersen , K B , Crüger , D G , Oostrik , J , Kremer , H , Tommerup , N , Frödin , M , Steel , K P , Tranebjærg , L & Børglum , A D 2015 , ....

الوصف: Nonsyndromic hearing impairment (NSHI) is a highly heterogeneous condition with more than eighty known causative genes. However, in the clinical setting, a large number of NSHI families have unexplained etiology, suggesting that there are many more genes to be identified. In this study we used SNP-based linkage analysis and follow up microsatellite markers to identify a novel locus (DFNA66) on chromosome 6q15-21 (LOD 5.1) in a large Danish family with dominantly inherited NSHI. By locus specific capture and next-generation sequencing, we identified a c.574C>T heterozygous nonsense mutation (p.R192*) in CD164. This gene encodes a 197 amino acid transmembrane sialomucin (known as endolyn, MUC-24 or CD164), which is widely expressed and involved in cell adhesion and migration. The mutation segregated with the phenotype and was absent in 1200 Danish control individuals and in databases with whole-genome and exome sequence data. The predicted effect of the mutation was a truncation of the last six C-terminal residues of the cytoplasmic tail of CD164, including a highly conserved canonical sorting motif (YXXФ). In whole blood from an affected individual, we found by RT-PCR both the wild-type and the mutated transcript suggesting that the mutant transcript escapes nonsense mediated decay. Functional studies in HEK cells demonstrated that the truncated protein was almost completely retained on the plasma cell membrane in contrast to the wild-type protein, which targeted primarily to the endo-lysosomal compartments, implicating failed endocytosis as a possible disease mechanism. In the mouse ear, we found CD164 expressed in the inner and outer hair cells of the organ of Corti, as well as in other locations in the cochlear duct. In conclusion, we have identified a new DFNA locus located on chromosome 6q15-21 and implicated CD164 as a novel gene for hearing impairment.

الإتاحة: https://doi.org/10.1371/journal.pgen.1005386Test
https://kclpure.kcl.ac.uk/portal/en/publications/a-novel-locus-harbouring-a-functional-cd164-nonsense-mutation-identified-in-a-large-danish-family-with-nonsyndromic-hearing-impairmentTest(d0688a5e-e791-407d-9d58-352f14ad891f).html
http://www.scopus.com/inward/record.url?scp=84938775191&partnerID=8YFLogxKTest

المؤلفون: Nyegaard, Mette, Rendtorff, Nanna D., Nielsen, Morten S., Corydon, Thomas J., Demontis, Ditte, Starnawska, Anna, Hedemand, Anne, Buniello, Annalisa, Niola, Francesco, Overgaard, Michael T., Leal, Suzanne M., Ahmad, Wasim, Wikman, Friedrik P., Petersen, Kirsten B., Crueger, Dorthe G., Oostrik, Jaap, Kremer, Hannie, Tommerup, Niels, Froedin, Morten, Steel, Karen P., Tranebjaerg, Lisbeth, Borglum, Anders D.

المصدر: Nyegaard , M , Rendtorff , N D , Nielsen , M S , Corydon , T J , Demontis , D , Starnawska , A , Hedemand , A , Buniello , A , Niola , F , Overgaard , M T , Leal , S M , Ahmad , W , Wikman , F P , Petersen , K B , Crueger , D G , Oostrik , J , Kremer , H , Tommerup , N , Froedin , M , Steel , K P , Tranebjaerg , L & Borglum , A D 2015 , ....

الإتاحة: https://doi.org/10.1371/journal.pgen.1005386Test
https://curis.ku.dk/portal/da/publications/a-novel-locus-harbouring-a-functional-cd164-nonsense-mutation-identified-in-a-large-danish-family-with-nonsyndromic-hearing-impairmentTest(d68b6000-7e9b-4369-b252-1b949f000f8c).html

المؤلفون: Nyegaard, Mette, Rendtorff, Nanna D, Nielsen, Morten S, Corydon, Thomas J, Demontis, Ditte, Starnawska, Anna, Hedemand, Anne, Buniello, Annalisa, Niola, Francesco, Overgaard, Michael T, Leal, Suzanne M, Ahmad, Wasim, Wikman, Friedrik P, Petersen, Kirsten B, Crüger, Dorthe G, Oostrik, Jaap, Kremer, Hannie, Tommerup, Niels, Frödin, Morten, Steel, Karen P, Tranebjærg, Lisbeth, Børglum, Anders D

المصدر: Nyegaard , M , Rendtorff , N D , Nielsen , M S , Corydon , T J , Demontis , D , Starnawska , A , Hedemand , A , Buniello , A , Niola , F , Overgaard , M T , Leal , S M , Ahmad , W , Wikman , F P , Petersen , K B , Crüger , D G , Oostrik , J , Kremer , H , Tommerup , N , Frödin , M , Steel , K P , Tranebjærg , L & Børglum , A D 2015 , ....

الوصف: Nonsyndromic hearing impairment (NSHI) is a highly heterogeneous condition with more than eighty known causative genes. However, in the clinical setting, a large number of NSHI families have unexplained etiology, suggesting that there are many more genes to be identified. In this study we used SNP-based linkage analysis and follow up microsatellite markers to identify a novel locus (DFNA66) on chromosome 6q15-21 (LOD 5.1) in a large Danish family with dominantly inherited NSHI. By locus specific capture and next-generation sequencing, we identified a c.574C>T heterozygous nonsense mutation (p.R192*) in CD164. This gene encodes a 197 amino acid transmembrane sialomucin (known as endolyn, MUC-24 or CD164), which is widely expressed and involved in cell adhesion and migration. The mutation segregated with the phenotype and was absent in 1200 Danish control individuals and in databases with whole-genome and exome sequence data. The predicted effect of the mutation was a truncation of the last six C-terminal residues of the cytoplasmic tail of CD164, including a highly conserved canonical sorting motif (YXXФ). In whole blood from an affected individual, we found by RT-PCR both the wild-type and the mutated transcript suggesting that the mutant transcript escapes nonsense mediated decay. Functional studies in HEK cells demonstrated that the truncated protein was almost completely retained on the plasma cell membrane in contrast to the wild-type protein, which targeted primarily to the endo-lysosomal compartments, implicating failed endocytosis as a possible disease mechanism. In the mouse ear, we found CD164 expressed in the inner and outer hair cells of the organ of Corti, as well as in other locations in the cochlear duct. In conclusion, we have identified a new DFNA locus located on chromosome 6q15-21 and implicated CD164 as a novel gene for hearing impairment.

العلاقة: https://vbn.aau.dk/da/publications/eb803dc8-440b-489a-a85c-b4ca5a888b38Test

الإتاحة: https://doi.org/10.1371/journal.pgen.1005386Test
https://vbn.aau.dk/da/publications/eb803dc8-440b-489a-a85c-b4ca5a888b38Test

المؤلفون: Nyegaard, Mette, Rendtorff, Nanna D, Nielsen, Morten S, Corydon, Thomas J, Demontis, Ditte, Starnawska, Anna, Hedemand, Anne, Buniello, Annalisa, Niola, Francesco, Overgaard, Michael T, Leal, Suzanne M, Ahmad, Wasim, Wikman, Friedrik P, Petersen, Kirsten B, Crüger, Dorthe G, Oostrik, Jaap, Kremer, Hannie, Tommerup, Niels, Frödin, Morten, Steel, Karen P, Tranebjærg, Lisbeth, Børglum, Anders D

المصدر: Nyegaard , M , Rendtorff , N D , Nielsen , M S , Corydon , T J , Demontis , D , Starnawska , A , Hedemand , A , Buniello , A , Niola , F , Overgaard , M T , Leal , S M , Ahmad , W , Wikman , F P , Petersen , K B , Crüger , D G , Oostrik , J , Kremer , H , Tommerup , N , Frödin , M , Steel , K P , Tranebjærg , L & Børglum , A D 2015 , ....

الوصف: Nonsyndromic hearing impairment (NSHI) is a highly heterogeneous condition with more than eighty known causative genes. However, in the clinical setting, a large number of NSHI families have unexplained etiology, suggesting that there are many more genes to be identified. In this study we used SNP-based linkage analysis and follow up microsatellite markers to identify a novel locus (DFNA66) on chromosome 6q15-21 (LOD 5.1) in a large Danish family with dominantly inherited NSHI. By locus specific capture and next-generation sequencing, we identified a c.574C>T heterozygous nonsense mutation (p.R192*) in CD164. This gene encodes a 197 amino acid transmembrane sialomucin (known as endolyn, MUC-24 or CD164), which is widely expressed and involved in cell adhesion and migration. The mutation segregated with the phenotype and was absent in 1200 Danish control individuals and in databases with whole-genome and exome sequence data. The predicted effect of the mutation was a truncation of the last six C-terminal residues of the cytoplasmic tail of CD164, including a highly conserved canonical sorting motif (YXXФ). In whole blood from an affected individual, we found by RT-PCR both the wild-type and the mutated transcript suggesting that the mutant transcript escapes nonsense mediated decay. Functional studies in HEK cells demonstrated that the truncated protein was almost completely retained on the plasma cell membrane in contrast to the wild-type protein, which targeted primarily to the endo-lysosomal compartments, implicating failed endocytosis as a possible disease mechanism. In the mouse ear, we found CD164 expressed in the inner and outer hair cells of the organ of Corti, as well as in other locations in the cochlear duct. In conclusion, we have identified a new DFNA locus located on chromosome 6q15-21 and implicated CD164 as a novel gene for hearing impairment.

العلاقة: https://pure.au.dk/portal/en/publications/c5e5545c-a665-4322-b0db-40f3a707d6d6Test

الإتاحة: https://doi.org/10.1371/journal.pgen.1005386Test
https://pure.au.dk/portal/en/publications/c5e5545c-a665-4322-b0db-40f3a707d6d6Test

المؤلفون: Jensen, Lars Henrik, Crüger, Dorthe G., Lindebjerg, Jan, Kuramochi, H, Danenberg, K, Danenberg, P, Jackson, A

المصدر: Jensen , L H , Crüger , D G , Lindebjerg , J , Kuramochi , H , Danenberg , K , Danenberg , P & Jackson , A 2007 , ' The gene expression of the mismatch repair gene MSH2 in primary colorectal cancer ' , Annals of Oncology , vol. 18 , no. suppl. 7 , pp. vii39-vii40 .

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/c098e200-0210-11dd-9e03-000ea68e967bTest

الإتاحة: https://portal.findresearcher.sdu.dk/da/publications/c098e200-0210-11dd-9e03-000ea68e967bTest

المؤلفون: Evans, Gareth, Antoniou, Antonis C., Kartsonaki, Christiana, Sinilnikova, Olga M., Soucy, Penny, McGuffog, Lesley, Healey, Sue, Lee, Andrew, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Barile, Monica, Pensotti, Valeria, Pasini, Barbara, Dolcetti, Riccardo, Giannini, Giuseppe, Putignano, Anna Laura, Varesco, Liliana, Radice, Paolo, Mai, Phuong L., Greene, Mark H., Andrulis, Irene L., Glendon, Gord, Ozcelik, Hilmi, Thomassen, Mads, Gerdes, Anne Marie, Kruse, Torben A., Jensen, Uffe Birk, Crüger, Dorthe G., Caligo, Maria A., Laitman, Yael, Milgrom, Roni, Kaufman, Bella, Paluch-Shimon, Shani, Friedman, Eitan, Nathanson, Katherine L., Domchek, Susan M., Rebbeck, Timothy, Jakubowska, Ania, Lubinski, Jan, Gronwald, Jacek, Huzarski, Tomasz, Byrski, Tomasz, Cybulski, Cezary, Gorski, Bohdan, Osorio, Ana, Cajal, Teresa Ramón, Fostira, Florentia, Andrés, Raquel, Benitez, Javier, Hamann, Ute, Hogervorst, Frans B., Rookus, Matti A., Hooning, Maartje J., Nelen, Marcel R., van der Luijt, Rob B., van Os, Theo A M, van Asperen, Christi J., Meijers-Heijboer, Hanne E J, Garcia, Encarna B Gómez, Frost, D., Ong, Kai Ren, Godwin, Andrew, Stoppa-Lyonnet, Dominique, Buecher, Bruno, Belotti, Muriel, Tirapo, Carole, Mazoyer, Sylvie, Barjhoux, Laure, Lasset, Christine, Leroux, Dominique, Faivre, Laurence, Bronner, Myriam, Prieur, Fabienne, Nogues, Catherine, Rouleau, Etienne, Pujol, Pascal, Coupier, Isabelle, Frénay, Marc, Hopper, John L., Daly, Mary B., Terry, Mary B., John, Esther M., Buys, Saundra S., Yassin, Yosuf, Miron, Alexander, Goldgar, David, Singer, Christian F., Tea, Muy Kheng, Pfeiler, Georg, Dressler, Anne Catharina, Hansen, Thomas v O, Jønson, Lars, Ejlertsen, Bent, Barkardottir, Rosa Bjork, Kirchhoff, Tomas, Offit, Kenneth, Piedmonte, Marion, Rodriguez, Gustavo, Small, Laurie, Boggess, John, Blank, Stephanie, Basil, Jack, Azodi, Masoud, Toland, Amanda Ewart, Montagna, Marco, Tognazzo, Silvia, Agata, Simona, Imyanitov, Evgeny, Janavicius, Ramunas, Lazaro, Conxi, Blanco, Ignacio, Pharoah, Paul D P, Sucheston, Lara, Karlan, Beth Y., Walsh, Christine S., Olah, Edith, Bozsik, Aniko, Teo, Soo Hwang, Seldon, Joyce L., Beattie, Mary S., van Rensburg, Elizabeth J., Sluiter, Michelle D., Diez, Orland, Schmutzler, Rita K., Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Ruehl, Ina, Varon-Mateeva, Raymonda, Kast, Karin, Deissler, Helmut, Niederacher, Dieter, Arnold, Norbert, Gadzicki, Dorothea, Schönbuchner, Ines, Caldes, Trinidad, de la Hoya, Miguel, Nevanlinna, Heli, Aittomäki, Kristiina, Dumont, Martine, Chiquette, Jocelyne, Tischkowitz, Marc, Chen, Xiaoqing, Beesley, Jonathan, Spurdle, Amanda B., Neuhausen, Susan L., Ding, Yuan Chun, Fredericksen, Zachary, Wang, Xianshu, Pankratz, Vernon S., Couch, Fergus, Simard, Jacques, Easton, Douglas F., Chenevix-Trench, Georgia, Karlsson, Per, Nordling, Margareta, Bergman, Annika, Einbeigi, Zakaria, Stenmark-Askmalm, Marie, Liedgren, Sigrun, Borg, Ake, Loman, Niklas, Olsson, Håkan, Kristoffersson, Ulf, Jernström, Helena, Harbst, Katja, Henriksson, Karin, Lindblom, Annika, Arver, Brita, von Wachenfeldt, Anna, Liljegren, Annelie, Barbany-Bustinza, Gisela, Rantala, Johanna, Melin, Beatrice, Grönberg, Henrik, Stattin, Eva Lena, Emanuelsson, Monica, Ehrencrona, Hans, Brandell, Richard Rosenquist, Dahl, Niklas, Hogervorst, F. B L, Verhoef, S., Verheus, M., Veer, L. J van t, van Leeuwen, F. E., Rookus, M. A., Collée, M., van den Ouweland, A. M W, Jager, A., Hooning, M. J., Tilanus-Linthorst, M. M A, Seynaeve, C., van Asperen, C. J., Wijnen, J. T., Vreeswijk, M. P., Tollenaar, R. A., Devilee, P., Ligtenberg, M. J., Hoogerbrugge, N., Ausems, M. G., van der Luijt, R. B., Aalfs, C. M., van Os, T. A., Gille, J. J P, Waisfisz, Q., Meijers-Heijboer, H. E J, Gomez-Garcia, E. B., van Roozendaal, C. E., Blok, Marinus J., Caanen, B., Oosterwijk, J. C., van der Hout, A. H., Mourits, M. J., Vasen, H. F., Peock, Susan, Cook, Margaret, Frost, Debra, Platte, Radka, Leyland, Jean, Miedzybrodzka, Zosia, Gregory, Helen, Morrison, Patrick, Jeffers, Lisa, Cole, Trevor, McKeown, Carole, Ong, Kai ren, Hoffman, Jonathan, Donaldson, Alan, Paterson, Joan, Downing, Sarah, Taylor, Amy, Murray, Alexandra, Rogers, Mark T., McCann, Emma, Kennedy, M. John, Barton, David, Porteous, Mary, Drummond, Sarah, Brewer, Carole, Kivuva, Emma, Searle, Anne, Goodman, Selina, Hill, Kathryn, Davidson, Rosemarie, Murday, Victoria, Bradshaw, Nicola, Snadden, Lesley, Longmuir, Mark, Watt, Catherine, Gibson, Sarah, Haque, Eshika, Tobias, Ed, Duncan, Alexis, Izatt, Louise, Jacobs, Chris, Langman, Caroline, Whaite, Anna, Dorkins, Huw, Barwell, Julian, Adlard, Julian, Chu, Carol, Miller, Julie, Ellis, Ian, Houghton, Catherine, Evans, D. Gareth, Lalloo, Fiona, Taylor, Jane, Side, Lucy, Male, Alison, Berlin, Cheryl, Eason, Jacqueline, Collier, Rebecca, Douglas, Fiona, Claber, Oonagh, Jobson, Irene, Walker, Lisa, McLeod, Diane, Halliday, Dorothy, Durell, Sarah, Stayner, Barbara, Eeles, Ros, Shanley, Susan, Rahman, Nazneen, Houlston, Richard, Bancroft, Elizabeth, D'Mello, Lucia, Page, Elizabeth, Ardern-Jones, Audrey, Kohut, Kelly, Wiggins, Jennifer, Castro, Elena, Mitra, Anita, Robertson, Lisa, Cook, Jackie, Quarrell, Oliver, Bardsley, Cathryn, Hodgson, Shirley, Goff, Sheila, Brice, Glen, Winchester, Lizzie, Eddy, Charlotte, Tripathi, Vishakha, Attard, Virginia, Eccles, Diana, Lucassen, Anneke, Crawford, Gillian, McBride, Donna, Smalley, Sarah

المصدر: Evans , G , Antoniou , A C , Kartsonaki , C , Sinilnikova , O M , Soucy , P , McGuffog , L , Healey , S , Lee , A , Peterlongo , P , Manoukian , S , Peissel , B , Zaffaroni , D , Cattaneo , E , Barile , M , Pensotti , V , Pasini , B , Dolcetti , R , Giannini , G , Putignano , A L , Varesco , L , Radice , P , Mai , P L , Greene , M H , Andrulis , ....

الوصف: Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have been implicated in the susceptibility to breast cancer for Asian (rs2046210) and European women (rs9397435). A genome-wide association study in Europeans identified two further breast cancer susceptibility variants: rs11249433 at 1p11.2 and rs999737 in RAD51L1 at 14q24.1. Although previously identified breast cancer susceptibility variants have been shown to be associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers, the involvement of these SNPs to breast cancer susceptibility in mutation carriers is currently unknown. To address this, we genotyped these SNPs in BRCA1 and BRCA2 mutation carriers from 42 studies from the Consortium of Investigators of Modifiers of BRCA1/2. In the analysis of 14 123 BRCA1 and 8053 BRCA2 mutation carriers of European ancestry, the 6q25.1 SNPs (r2 = 0.14) were independently associated with the risk of breast cancer for BRCA1 mutation carriers [hazard ratio (HR) = 1.17, 95% confidence interval (CI): 1.11-1.23, P-trend = 4.5 × 10-9 for rs2046210; HR = 1.28, 95% CI: 1.18-1.40, P-trend = 1.3 × 10-8 for rs9397435], but only rs9397435 was associated with the risk for BRCA2 carriers (HR = 1.14, 95% CI: 1.01-1.28, P-trend = 0.031). SNP rs11249433 (1p11.2) was associated with the risk of breast cancer for BRCA2 mutation carriers (HR = 1.09, 95% CI: 1.02-1.17, P-trend = 0.015), but was not associated with breast cancer risk for BRCA1 mutation carriers (HR = 0.97, 95% CI: 0.92-1.02, P-trend = 0.20). SNP rs999737 (RAD51L1) was not associated with breast cancer risk for either BRCA1 or BRCA2 mutation carriers (P-trend = 0.27 and 0.30, respectively). The identification of SNPs at 6q25.1 associated with breast cancer risk for BRCA1 mutation carriers will lead to a better understanding of the biology of tumour development in these women. © The Author 2011. Published by Oxford University Press. All rights reserved.

الإتاحة: https://doi.org/10.1093/hmg/ddr226Test
https://research.manchester.ac.uk/en/publications/24510b64-8492-43b7-b1fa-91ba1365fa76Test

المؤلفون: Antoniou, Antonis C., Kartsonaki, Christiana, Sinilnikova, Olga M., Soucy, Penny, McGuffog, Lesley, Healey, Sue, Lee, Andrew, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Barile, Monica, Pensotti, Valeria, Pasini, Barbara, Dolcetti, Riccardo, Giannini, Giuseppe, Putignano, Anna Laura, Varesco, Liliana, Radice, Paolo, Mai, Phuong L., Greene, Mark H., Andrulis, Irene L., Glendon, Gord, Ozcelik, Hilmi, Thomassen, Mads, Gerdes, Anne-Marie, Kruse, Torben A., Jensen, Uffe Birk, Crueger, Dorthe G., Caligo, Maria A., Laitman, Yael, Milgrom, Roni, Kaufman, Bella, Paluch-Shimon, Shani, Friedman, Eitan, Loman, Niklas, Harbst, Katja, Lindblom, Annika, Arver, Brita, Ehrencrona, Hans, Melin, Beatrice, Nathanson, Katherine L., Domchek, Susan M., Rebbeck, Timothy, Jakubowska, Ania, Lubinski, Jan, Gronwald, Jacek, Huzarski, Tomasz, Byrski, Tomasz

المصدر: Antoniou , A C , Kartsonaki , C , Sinilnikova , O M , Soucy , P , McGuffog , L , Healey , S , Lee , A , Peterlongo , P , Manoukian , S , Peissel , B , Zaffaroni , D , Cattaneo , E , Barile , M , Pensotti , V , Pasini , B , Dolcetti , R , Giannini , G , Putignano , A L , Varesco , L , Radice , P , Mai , P L , Greene , M H , Andrulis , I L , Glendon ....

مصطلحات موضوعية: GENOME-WIDE ASSOCIATION, ESTROGEN-RECEPTOR, CONFER SUSCEPTIBILITY, GENETIC MODIFIERS, VARIANTS, LOCUS, POPULATION, 2Q35

الوصف: Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have been implicated in the susceptibility to breast cancer for Asian (rs2046210) and European women (rs9397435). A genome-wide association study in Europeans identified two further breast cancer susceptibility variants: rs11249433 at 1p11.2 and rs999737 in RAD51L1 at 14q24.1. Although previously identified breast cancer susceptibility variants have been shown to be associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers, the involvement of these SNPs to breast cancer susceptibility in mutation carriers is currently unknown. To address this, we genotyped these SNPs in BRCA1 and BRCA2 mutation carriers from 42 studies from the Consortium of Investigators of Modifiers of BRCA1/2. In the analysis of 14 123 BRCA1 and 8053 BRCA2 mutation carriers of European ancestry, the 6q25.1 SNPs (r(2) = 0.14) were independently associated with the risk of breast cancer for BRCA1 mutation carriers [ hazard ratio (HR) = 1.17, 95% confidence interval (CI): 1.11-1.23, P-trend = 4.5 x 10(-9) for rs2046210; HR = 1.28, 95% CI: 1.18-1.40, P-trend = 1.3 x 10(-8) for rs9397435], but only rs9397435 was associated with the risk for BRCA2 carriers (HR = 1.14, 95% CI: 1.01-1.28, P-trend = 0.031). SNP rs11249433 (1p11.2) was associated with the risk of breast cancer for BRCA2 mutation carriers (HR = 1.09, 95% CI: 1.02-1.17, P-trend = 0.015), but was not associated with breast cancer risk for BRCA1 mutation carriers (HR = 0.97, 95% CI: 0.92-1.02, P-trend = 0.20). SNP rs999737 (RAD51L1) was not associated with breast cancer risk for either BRCA1 or BRCA2 mutation carriers (P-trend = 0.27 and 0.30, respectively). The identification of SNPs at 6q25.1 associated with breast cancer risk for BRCA1 mutation carriers will lead to a better understanding of the biology of tumour development in these women.

الإتاحة: https://doi.org/10.1093/hmg/ddr226Test
http://hdl.handle.net/11370/f87c04eb-ff18-4df5-b76f-2adce768b9ecTest
https://research.rug.nl/en/publications/common-alleles-at-6q251-and-1p112-are-associated-with-breast-cancer-risk-for-brca1-and-brca2-mutation-carriersTest(f87c04eb-ff18-4df5-b76f-2adce768b9ec).html

المؤلفون: Jensen, Thomas Dyrsø, Li, Jian, Wang, Kai, Lindebjerg, Jan, Kølvraa, Steen, Bolund, Lars, Jakobsen, Anders, Bruun-Petersen, Gert, Li, Shengting, Crüger, Dorthe G

المصدر: Jensen , T D , Li , J , Wang , K , Lindebjerg , J , Kølvraa , S , Bolund , L , Jakobsen , A , Bruun-Petersen , G , Li , S & Crüger , D G 2011 , ' Identification of chromosome aberrations in sporadic microsatellite stable and unstable colorectal cancers using array comparative genomic hybridization ' , Cancer Genetics , vol. 204 , no. 2 , pp. 84-95 . https://doi.org/10.1016/j.cancergencyto.2010.08.019Test

مصطلحات موضوعية: Aged, 80 and over, Chromosome Aberrations, Colorectal Neoplasms, Comparative Genomic Hybridization, Female, Humans, Male, Microsatellite Instability, Microsatellite Repeats, Middle Aged

الوصف: Colorectal cancer (CRC) is one of the most common cancers in Denmark and in the western world in general, and the prognosis is generally poor. According to the traditional molecular classification of sporadic colorectal cancer, microsatellite stable (MSS)/chromosome unstable (CIN) colorectal cancers constitute approximately 85% of sporadic cases, whereas microsatellite unstable (MSI) cases constitute the remaining 15%. In this study, we used array comparative genomic hybridization (aCGH) to identify genomic hotspot regions that harbor recurrent copy number changes. The study material comprised fresh samples from 40 MSS tumors and 20 MSI tumors obtained from 60 Danish CRC patients. We identified five small genomic regions (

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/b96a26a6-4311-4416-8fa5-792307f48011Test

الإتاحة: https://doi.org/10.1016/j.cancergencyto.2010.08.019Test
https://portal.findresearcher.sdu.dk/da/publications/b96a26a6-4311-4416-8fa5-792307f48011Test

المؤلفون: Antoniou, Antonis C, Kartsonaki, Christiana, Sinilnikova, Olga M, Soucy, Penny, McGuffog, Lesley, Healey, Sue, Lee, Andrew, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Cattaneo, Elisa, Barile, Monica, Pensotti, Valeria, Pasini, Barbara, Dolcetti, Riccardo, Giannini, Giuseppe, Putignano, Anna Laura, Varesco, Liliana, Radice, Paolo, Mai, Phuong L, Greene, Mark H, Andrulis, Irene L, Glendon, Gord, Ozcelik, Hilmi, Thomassen, Mads, Gerdes, Anne-Marie, Kruse, Torben A, Jensen, Uffe Birk, Crüger, Dorthe G, Caligo, Maria A, Laitman, Yael, Milgrom, Roni, Kaufman, Bella, Paluch-Shimon, Shani, Friedman, Eitan, Loman, Niklas, Harbst, Katja, Lindblom, Annika, Arver, Brita, Ehrencrona, Hans, Melin, Beatrice, Nathanson, Katherine L, Domchek, Susan M, Rebbeck, Timothy, Jakubowska, Ania, Lubinski, Jan, Gronwald, Jacek, Huzarski, Tomasz, Byrski, Tomasz

المصدر: Antoniou , A C , Kartsonaki , C , Sinilnikova , O M , Soucy , P , McGuffog , L , Healey , S , Lee , A , Peterlongo , P , Manoukian , S , Peissel , B , Zaffaroni , D , Cattaneo , E , Barile , M , Pensotti , V , Pasini , B , Dolcetti , R , Giannini , G , Putignano , A L , Varesco , L , Radice , P , Mai , P L , Greene , M H , Andrulis , I L , Glendon ....

الوصف: Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have been implicated in the susceptibility to breast cancer for Asian (rs2046210) and European women (rs9397435). A genome-wide association study in Europeans identified two further breast cancer susceptibility variants: rs11249433 at 1p11.2 and rs999737 in RAD51L1 at 14q24.1. Although previously identified breast cancer susceptibility variants have been shown to be associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers, the involvement of these SNPs to breast cancer susceptibility in mutation carriers is currently unknown. To address this, we genotyped these SNPs in BRCA1 and BRCA2 mutation carriers from 42 studies from the Consortium of Investigators of Modifiers of BRCA1/2. In the analysis of 14 123 BRCA1 and 8053 BRCA2 mutation carriers of European ancestry, the 6q25.1 SNPs (r(2) = 0.14) were independently associated with the risk of breast cancer for BRCA1 mutation carriers [hazard ratio (HR) = 1.17, 95% confidence interval (CI): 1.11-1.23, P-trend = 4.5 × 10(-9) for rs2046210; HR = 1.28, 95% CI: 1.18-1.40, P-trend = 1.3 × 10(-8) for rs9397435], but only rs9397435 was associated with the risk for BRCA2 carriers (HR = 1.14, 95% CI: 1.01-1.28, P-trend = 0.031). SNP rs11249433 (1p11.2) was associated with the risk of breast cancer for BRCA2 mutation carriers (HR = 1.09, 95% CI: 1.02-1.17, P-trend = 0.015), but was not associated with breast cancer risk for BRCA1 mutation carriers (HR = 0.97, 95% CI: 0.92-1.02, P-trend = 0.20). SNP rs999737 (RAD51L1) was not associated with breast cancer risk for either BRCA1 or BRCA2 mutation carriers (P-trend = 0.27 and 0.30, respectively). The identification of SNPs at 6q25.1 associated with breast cancer risk for BRCA1 mutation carriers will lead to a better understanding of the biology of tumour development in these women.

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/04dc1a26-2ca0-466d-b794-0d33ad844578Test

الإتاحة: https://doi.org/10.1093/hmg/ddr226Test
https://portal.findresearcher.sdu.dk/da/publications/04dc1a26-2ca0-466d-b794-0d33ad844578Test