Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk

Autor:	Gaudet, Mia M., Kuchenbaecker, Karoline B., Vijai, Joseph, Klein, Robert J., Kirchhoff, Tomas, McGuffog, Lesley, Barrowdale, Daniel, Dunning, Alison M., Lee, Andrew, Dennis, Joe, Healey, Sue, Dicks, Ed, Soucy, Penny, Sinilnikova, Olga M., Pankratz, Vernon S., Wang, Xianshu, Eldridge, Ronald C., Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Hogervorst, Frans B.L., Peock, Susan, Stoppa-Lyonnet, Dominique, Coulet, Florence, Colas, Chrystelle, Soubrier, Florent, Peterlongo, Paolo, Schmutzler, Rita K., Nathanson, Katherine L., Piedmonte, Marion, Singer, Christian F., Thomassen, Mads, Sokolowska, Johanna, Bronner, Myriam, Hansen, Thomas V.O., Neuhausen, Susan L., Blanco, Ignacio, Greene, Mark H., Garber, Judith, Weitzel, Jeffrey N., Andrulis, Irene L., Goldgar, David E., D'Andrea, Emma, Caldes, Trinidad, Nevanlinna, Heli, Osorio, Ana, van Rensburg, Elizabeth J., Arason, Adalgeir, Rennert, Gad, van den Ouweland, Ans M.W., van der Hout, Annemarie H., Kets, Carolien M., Aalfs, Cora M., Wijnen, Juul T., Ausems, Margreet G.E.M., Frost, Debra, Ellis, Steve, Fineberg, Elena, Platte, Radka, Evans, D. Gareth, Jacobs, Chris, Adlard, Julian, Tischkowitz, Marc, Porteous, Mary, Damiola, Francesca, Golmard, Lisa, Barjhoux, Laure, Longy, Michel, Belotti, Muriel, Ferrer, Sandra Fert, Mazoyer, Sylvie, Spurdle, Amanda B., Manoukian, Siranoush, Barile, Monica, Genuardi, Maurizio, Arnold, Norbert, Meindl, Alfons, Sutter, Christian, Wappenschmidt, Barbara, Domchek, Susan M., Pfeiler, Georg, Friedman, Eitan, Jensen, Uffe Birk, Robson, Mark, Shah, Sohela, Lazaro, Conxi, Mai, Phuong L., Benitez, Javier, Southey, Melissa C., Schmidt, M. K., Fasching, Peter A., Peto, Julian, Humphreys, Manjeet K., Wang, Qin, Michailidou, Kyriaki, Sawyer, Elinor J., Burwinkel, Barbara, Guénel, Pascal, Bojesen, Stig E., Milne, Roger L., Brenner, Hermann, Lochmann, Magdalena, Brauch, Hiltrud, Ko, Yon Dschun, Baisch, Christian, Fischer, Hand Peter, Bruening, Thomas, Pesch, Beate, Rabstein, Sylvia, Spickenheuer, Anne, Aittomäki, Kristiina, Dörk, Thilo, Margolin, Sara, Mannermaa, Arto, Lambrechts, Diether, Chang-Claude, Jenny, Radice, Paolo, Giles, Graham G., Haiman, Christopher A., Winqvist, Robert, Devillee, Peter, García-Closas, Montserrat, Schoof, Nils, Hooning, M. J., Cox, Angela, Pharoah, Paul D.P., Jakubowska, Anna, Orr, Nick, González-Neira, Anna, Pita, Guillermo, Alonso, M. Rosario, Hall, Per, Couch, Fergus J., Simard, Jacques, Altshuler, David, Easton, Douglas F., Chenevix-Trench, Georgia, Antoniou, Antonis C., Offit, Kenneth, Rookus, M. A., van Leeuwen, F. E., Verhoef, S., de Lange, J. L., Collée, J. M., Seynaeve, C., van Deurzen, C. H.M., van Asperen, C. J., Tollenaar, R. A., Devilee, P., van Cronenburg, T. C.T.E.F., Mensenkamp, A. R., van der Luijt, R. B., van Os, T. A.M., Gille, J. J.P., Waisfisz, Q., Meijers-Heijboer, H. E.J., Gómez-Garcia, E. B., Blok, M. J., Oosterwijk, J. C., Mourits, M. J., de Bock, G. H., Vasen, H. F., Miedzybrodzka, Zosia, Gregory, Helen, Morrison, Patrick, Jeffers, Lisa, Cole, Trevor, Ong, Kai ren, Hoffman, Jonathan, Donaldson, Alan, James, Margaret, Paterson, Joan, Taylor, Amy, Murray, Alexandra, Rogers, Mark T., McCann, Emma, Kennedy, M. John, Barton, David, 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, Langman, Caroline, Brady, Angela, Dorkins, Huw, Melville, Athalie, Randhawa, Kashmir, Barwell, Julian, Serra-Feliu, Gemma, Ellis, Ian, Houghton, Catherine, Lalloo, Fiona, Taylor, Jane, Side, Lucy, Male, Alison, Berlin, Cheryl, Eason, Jacqueline, Douglas, Fiona, Claber, Oonagh, Collier, Rebecca, Jobson, Irene, Walker, Lisa, McLeod, Diane, Durell, Sarah, Stayner, Barbara, Eeles, Rosalind A., Shanley, Susan, Rahman, Nazneen, Houlston, Richard, Bancroft, Elizabeth, Page, Elizabeth, Ardern-Jones, Audrey, Kohut, Kelly, Wiggins, Jennifer, Castro, Elena, Killick, Emma, Martin, Sue, Rea, Gillian, Kulkarni, Anjana, Cook, Jackie, Quarrell, Oliver, Bardsley, Cathryn, Hodgson, Shirley, Goff, Sheila, Brice, Glen, Winchester, Lizzie, Eddy, Charlotte, Tripathi, Vishakha, Attard, Virginia, Lehmann, Anna, Eccles, Diana, Lucassen, Anneke, Crawford, Gillian, McBride, Donna, Smalley, Sarah, Sinilnikova, Olga, Verny-Pierre, Carole, Giraud, Sophie, Léone, Mélanie, Gauthier-Villars, Marion, Buecher, Bruno, Houdayer, Claude, Moncoutier, Virginie, Tirapo, Carole, de Pauw, Antoine, Bressac-de-Paillerets, Brigitte, Caron, Olivier, Bignon, Yves Jean, Uhrhammer, Nancy, Lasset, Christine, Bonadona, Valérie, Handallou, Sandrine, Hardouin, Agnés, Berthet, Pascaline, Sobol, Hagay, Bourdon, Violaine, Noguchi, Tetsuro, Remenieras, Audrey, Coupier, Isabelle, Pujol, Pascal, Peyrat, Jean Philippe, Fournier, Joëlle, Révillion, Françoise, Vennin, Philippe, Adenis, Claude, Rouleau, Etienne, Lidereau, Rosette, Demange, Liliane, Nogues, Catherine, Muller, Danièle, Fricker, Jean Pierre, Barouk-Simonet, Emmanuelle, Bonnet, Françoise, Bubien, Virginie, Sevenet, Nicolas, Toulas, Christine, Guimbaud, Rosine, Gladieff, Laurence, Feillel, Viviane, Dreyfus, Hélène, Rebischung, Christine, Peysselon, Magalie, Coron, Fanny, Faivre, Laurence, Prieur, Fabienne, Lebrun, Marine, Kientz, Caroline, Frénay, Marc, Vénat-Bouvet, Laurence, Delnatte, Capucine, Mortemousque, Isabelle, Lynch, Henry T., Snyder, Carrie L.
Přispěvatelé:	Clinical Genetics, Medical Oncology, Human Genetics, Human genetics, EMGO - Quality of care, Anesthesiology, CCA - Oncogenesis, CCA - Cancer biology and immunology, Epidemiology and Data Science, Department of Obstetrics and Gynecology, Clinicum, Department of Medical and Clinical Genetics
Rok vydání:	2013
Předmět:	Cancer Research SUSCEPTIBILITY ALLELES Genome-wide association study Aetiology screening and detection [ONCOL 5] QH426-470 Settore MED/03 - GENETICA MEDICA Genoma humà SUBTYPES Breast cancer 0302 clinical medicine Risk Factors CDKN2A Genotype BRCA2 MUTATION CARRIERS Malalties hereditàries GWAS skin and connective tissue diseases Genetics (clinical) POPULATION 2. Zero hunger Genetics 0303 health sciences education.field_of_study BRCA1 Protein COMMON VARIANTS genetic modifiers BRCA2 cancer risk Middle Aged 3. Good health 030220 oncology & carcinogenesis Chromosomes Human Pair 6 Female Genetic diseases Adult Heterozygote Medizinische Fakultät -ohne weitere Spezifikation education Population Breast Neoplasms Single-nucleotide polymorphism Locus (genetics) Human chromosomes Biology Polymorphism Single Nucleotide OVARIAN-CANCER BRCA2-specific modifier locus at 6p24 Càncer de mama 03 medical and health sciences TRANSCRIPTION FACTOR AP-2 SDG 3 - Good Health and Well-being medicine Humans Genetic Predisposition to Disease ddc:610 Allele GENOME-WIDE ASSOCIATION Molecular Biology Alleles Ecology Evolution Behavior and Systematics Aged 030304 developmental biology BRCA2 Protein Cromosomes humans Human genome Hereditary cancer and cancer-related syndromes [ONCOL 1] CONSORTIUM medicine.disease Mutation 3111 Biomedicine ZNF365 Genome-Wide Association Study
Zdroj:	Plos Genetics, 9, 3, pp. e1003173 Plos Genetics, 9, e1003173 Gaudet, M M, Kuchenbaecker, K B, Vijai, J, Klein, R J, Kirchhoff, T, McGuffog, L, Barrowdale, D, Dunning, A M, Lee, A R, Dennis, J, Healey, S, Dicks, E, Soucy, P, Sinilnikova, O M, Pankratz, V S, Wang, X, Eldridge, R C, Tessier, D C, Vincent, D, Bacot, F, Hogervorst, F B L, Peock, S, Stoppa-Lyonnet, D, Peterlongo, P, Schmutzler, R K, Nathanson, K L, Piedmonte, M, Singer, C F, Thomassen, M, Hansen, T V O, Neuhausen, S L, Blanco, I, Greene, M H, Garber, J, Weitzel, J N, Andrulis, I L, Goldgar, D E, D'Andrea, E, Caldes, T, Nevanlinna, H, Osorio, A, van Rensburg, E J, Arason, A, Rennert, G, van den Ouweland, A M W, van der Hout, A H, Kets, C M, Aalfs, C M, Wijnen, J T, Ausems, M G E M & kConFab Investigators 2013, ' Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk ', P L o S Genetics, vol. 9, no. 3, e1003173 . https://doi.org/10.1371/journal.pgen.1003173 Dipòsit Digital de la UB Universidad de Barcelona Gaudet, M M, Kuchenbaecker, K B, Vijai, J, Klein, R J, Kirchhoff, T, McGuffog, L, Barrowdale, D, Dunning, A M, Lee, A R, Dennis, J, Healey, S, Dicks, E, Soucy, P, Sinilnikova, O M, Pankratz, V S, Wang, X, Eldridge, R C, Tessier, D C, Vincent, D, Bacot, F, Hogervorst, F B L, Peock, S, Stoppa-Lyonnet, D, Peterlongo, P, Schmutzler, R K, Nathanson, K L, Piedmonte, M, Singer, C F, Thomassen, M, Hansen, T V O, Neuhausen, S L, Blanco, I, Greene, M H, Garber, J, Weitzel, J N, Andrulis, I L, Goldgar, D E, D'Andrea, E, Caldes, T, Nevanlinna, H, Osorio, A, van Rensburg, E J, Arason, A, Rennert, G, van den Ouweland, A M W, van der Hout, A H, Kets, C M, Aalfs, C M, Wijnen, J T, Jensen, U B & KConFab Investigators 2013, ' Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk ', PLoS genetics, vol. 9, no. 3, pp. e1003173 . https://doi.org/10.1371/journal.pgen.1003173 Gaudet, M M, Kuchenbaecker, K B, Vijai, J, Klein, R J, Kirchhoff, T, McGuffog, L, Barrowdale, D, Dunning, A M, Lee, A, Dennis, J, Healey, S, Dicks, E, Soucy, P, Sinilnikova, O M, Pankratz, V S, Wang, X, Eldridge, R C, Tessier, D C, Vincent, D, Bacot, F, Hogervorst, F B L, Peock, S, Stoppa-Lyonnet, D, Coulet, F, Colas, C, Soubrier, F, Peterlongo, P, Schmutzler, R K, Nathanson, K L, Piedmonte, M, Singer, C F, Thomassen, M, Sokolowska, J, Bronner, M, Hansen, T V O, Neuhausen, S L, Blanco, I, Greene, M H, Garber, J, Weitzel, J N, Andrulis, I L, Goldgar, D E, D'Andrea, E, Caldes, T, Nevanlinna, H, Osorio, A, van Rensburg, E J, Arason, A, Rennert, G, van den Ouweland, A M W, van der Hout, A H, Kets, C M, Aalfs, C M, Wijnen, J T, Ausems, M G E M, Frost, D, Ellis, S, Fineberg, E, Platte, R, Evans, D G, Jacobs, C, Adlard, J, Tischkowitz, M, Porteous, M, Damiola, F, Golmard, L, Barjhoux, L, Longy, M, Belotti, M, Ferrer, S F, Mazoyer, S, Spurdle, A B, Manoukian, S, Barile, M, Genuardi, M, Arnold, N, Meindl, A, Sutter, C, Wappenschmidt, B, Domchek, S M, Pfeiler, G, Friedman, E, Jensen, U B, Robson, M, Shah, S, Lazaro, C, Mai, P L, Benitez, J, Southey, M C, Schmidt, M K, Fasching, P A, Peto, J, Humphreys, M K, Wang, Q, Michailidou, K, Sawyer, E J, Burwinkel, B, Guénel, P, Bojesen, S E, Milne, R L, Brenner, H, Lochmann, M, Brauch, H, Ko, Y D, Baisch, C, Fischer, H P, Bruening, T, Pesch, B, Rabstein, S, Spickenheuer, A, Aittomäki, K, Dörk, T, Margolin, S, Mannermaa, A, Lambrechts, D, Chang-Claude, J, Radice, P, Giles, G G, Haiman, C A, Winqvist, R, Devillee, P, García-Closas, M, Schoof, N, Hooning, M J, Cox, A, Pharoah, P D P, Jakubowska, A, Orr, N, González-Neira, A, Pita, G, Alonso, M R, Hall, P, Couch, F J, Simard, J, Altshuler, D, Easton, D F, Chenevix-Trench, G, Antoniou, A C, Offit, K, Rookus, M A, van Leeuwen, F E, Verhoef, S, de Lange, J L, Collée, J M, Seynaeve, C, van Deurzen, C H M, van Asperen, C J, Tollenaar, R A, Devilee, P, van Cronenburg, T C T E F, Mensenkamp, A R, van der Luijt, R B, van Os, T A M, Gille, J J P, Waisfisz, Q, Meijers-Heijboer, H E J, Gómez-Garcia, E B, Blok, M J, Oosterwijk, J C, Mourits, M J, de Bock, G H, Vasen, H F, Miedzybrodzka, Z, Gregory, H, Morrison, P, Jeffers, L, Cole, T, Ong, K R, Hoffman, J, Donaldson, A, James, M, Paterson, J, Taylor, A, Murray, A, Rogers, M T, McCann, E, Kennedy, M J, Barton, D, Porteous, M, Drummond, S, Brewer, C, Kivuva, E, Searle, A, Goodman, S, Hill, K, Davidson, R, Murday, V, Bradshaw, N, Snadden, L, Longmuir, M, Watt, C, Gibson, S, Haque, E, Tobias, E, Duncan, A, Izatt, L, Langman, C, Brady, A, Dorkins, H, Melville, A, Randhawa, K, Barwell, J, Serra-Feliu, G, Ellis, I, Houghton, C, Lalloo, F, Taylor, J, Side, L, Male, A, Berlin, C, Eason, J, Douglas, F, Claber, O, Collier, R, Jobson, I, Walker, L, McLeod, D, Durell, S, Stayner, B, Eeles, R A, Shanley, S, Rahman, N, Houlston, R, Bancroft, E, Page, E, Ardern-Jones, A, Kohut, K, Wiggins, J, Castro, E, Killick, E, Martin, S, Rea, G, Kulkarni, A, Cook, J, Quarrell, O, Bardsley, C, Hodgson, S, Goff, S, Brice, G, Winchester, L, Eddy, C, Tripathi, V, Attard, V, Lehmann, A, Eccles, D, Lucassen, A, Crawford, G, McBride, D, Smalley, S, Sinilnikova, O, Verny-Pierre, C, Giraud, S, Léone, M, Gauthier-Villars, M, Buecher, B, Houdayer, C, Moncoutier, V, Tirapo, C, de Pauw, A, Bressac-de-Paillerets, B, Caron, O, Bignon, Y J, Uhrhammer, N, Lasset, C, Bonadona, V, Handallou, S, Hardouin, A, Berthet, P, Sobol, H, Bourdon, V, Noguchi, T, Remenieras, A, Coupier, I, Pujol, P, Peyrat, J P, Fournier, J, Révillion, F, Vennin, P, Adenis, C, Rouleau, E, Lidereau, R, Demange, L, Nogues, C, Muller, D, Fricker, J P, Barouk-Simonet, E, Bonnet, F, Bubien, V, Sevenet, N, Toulas, C, Guimbaud, R, Gladieff, L, Feillel, V, Dreyfus, H, Rebischung, C, Peysselon, M, Coron, F, Faivre, L, Prieur, F, Lebrun, M, Kientz, C, Frénay, M, Vénat-Bouvet, L, Delnatte, C, Mortemousque, I, Lynch, H T, Snyder, C L, EMBRACE, HEBON, GENICA Network, GEMO Study, KConFab Investigators & Ontario Cancer Genetics Network 2013, ' Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk ', PLoS Genetics, vol. 9, no. 3, e1003173 . https://doi.org/10.1371/journal.pgen.1003173 PLoS Genetics; Vol 9 PLoS Genetics, 9(3) Recercat. Dipósit de la Recerca de Catalunya instname PLoS Genetics (print), 9(3). Public Library of Science PLoS Genetics PLoS genetics, 9(3). Public Library of Science PLoS Genetics, 9(3):e1003173. Public Library of Science PLoS genetics, 9(3). PUBLIC LIBRARY SCIENCE PLoS Genetics, Vol 9, Iss 3, p e1003173 (2013)
ISSN:	1553-7390 1553-7404
Popis:	Contains fulltext : 118578.pdf (Publisher’s version ) (Open Access) Common genetic variants contribute to the observed variation in breast cancer risk for BRCA2 mutation carriers; those known to date have all been found through population-based genome-wide association studies (GWAS). To comprehensively identify breast cancer risk modifying loci for BRCA2 mutation carriers, we conducted a deep replication of an ongoing GWAS discovery study. Using the ranked P-values of the breast cancer associations with the imputed genotype of 1.4 M SNPs, 19,029 SNPs were selected and designed for inclusion on a custom Illumina array that included a total of 211,155 SNPs as part of a multi-consortial project. DNA samples from 3,881 breast cancer affected and 4,330 unaffected BRCA2 mutation carriers from 47 studies belonging to the Consortium of Investigators of Modifiers of BRCA1/2 were genotyped and available for analysis. We replicated previously reported breast cancer susceptibility alleles in these BRCA2 mutation carriers and for several regions (including FGFR2, MAP3K1, CDKN2A/B, and PTHLH) identified SNPs that have stronger evidence of association than those previously published. We also identified a novel susceptibility allele at 6p24 that was inversely associated with risk in BRCA2 mutation carriers (rs9348512; per allele HR = 0.85, 95% CI 0.80-0.90, P = 3.9x10(-8)). This SNP was not associated with breast cancer risk either in the general population or in BRCA1 mutation carriers. The locus lies within a region containing TFAP2A, which encodes a transcriptional activation protein that interacts with several tumor suppressor genes. This report identifies the first breast cancer risk locus specific to a BRCA2 mutation background. This comprehensive update of novel and previously reported breast cancer susceptibility loci contributes to the establishment of a panel of SNPs that modify breast cancer risk in BRCA2 mutation carriers. This panel may have clinical utility for women with BRCA2 mutations weighing options for medical prevention of breast cancer.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be8bbb324fd27ffcb52b62a1a013638c https://hdl.handle.net/2066/118578 Zobrazit plný text záznamu