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Introduction: Several common alleles have been shown to be associated with breast and/or ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2).Methods: To evaluate whether these single nucleotide polymorphisms (SNPs) are associated with breast cancer risk for BRCA1 and BRCA2 carriers, we genotyped these SNPs in 12,599 BRCA1 and 7,132 BRCA2 mutation carriers and analysed the associations with breast cancer risk within a retrospective likelihood framework.Results: Only SNP rs10771399 near PTHLH was associated with breast cancer risk for BRCA1 mutation carriers (per-allele hazard ratio (HR) = 0.87, 95% CI: 0.81 to 0.94, P-trend = 3 × 10 -4). The association was restricted to mutations proven or predicted to lead to absence of protein expression (HR = 0.82, 95% CI: 0.74 to 0.90, P-trend = 3.1 × 10 -5, P-difference = 0.03). Four SNPs were associated with the risk of breast cancer for BRCA2 mutation carriers: rs10995190, P-trend = 0.015; rs1011970, P-trend = 0.048; rs865686, 2df-P = 0.007; rs1292011 2df-P = 0.03. rs10771399 (PTHLH) was predominantly associated with estrogen receptor (ER)-negative breast cancer for BRCA1 mutation carriers (HR = 0.81, 95% CI: 0.74 to 0.90, P-trend = 4 × 10 -5) and there was marginal evidence of association with ER-negative breast cancer for BRCA2 mutation carriers (HR = 0.78, 95% CI: 0.62 to 1.00, P-trend = 0.049).Conclusions: The present findings, in combination with previously identified modifiers of risk, will ultimately lead to more accurate risk prediction and an improved understanding of the disease etiology in BRCA1 and BRCA2 mutation carriers. © 2012 Antoniou et al.; licensee BioMed Central Ltd.

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers / Antonis C., Antoniou; Karoline B., Kuchenbaecker; Penny, Soucy; Jonathan, Beesley; Xiaoqing, Chen; Lesley, Mcguffog; Andrew, Lee; Daniel, Barrowdale; Sue, Healey; Olga M., Sinilnikova; Maria A., Caligo; Niklas, Loman; Katja, Harbst; Annika, Lindblom; Brita, Arver; Richard, Rosenquist; Per, Karlsson; Kate, Nathanson; Susan, Domchek; Tim, Rebbeck; Anna, Jakubowska; Jan, Lubinski; Katarzyna, Jaworska; Katarzyna, Durda; E., Zlowocka Perlowska; Elzbieta Złowowcka, Perłowska; Ana, Osorio; Mercedes, Duran; Raquel, Andres; Javier, Benitez; Ute, Hamann; Frans B., Hogervorst; A., Van; Theo A., Van Os; Senno, Verhoef; Hanne E. J., Meijers Heijboer; Juul, Wijnen; Encarna B., Gomez Garcia; Marjolijn J., Ligtenberg; Mieke, Kriege; J., Margriet Collee; Margreet Gem, Ausems; Jan C., Oosterwijk; Susan, Peock; Debra, Frost; Steve D., Ellis; Radka, Platte; Elena, Fineberg; D., Gareth Evans; Fiona, Lalloo; Chris, Jacobs; Ros, Eeles; Julian, Adlard; Rosemarie, Davidson; Trevor, Cole; Jackie, Cook; Joan, Paterson; Fiona, Douglas; Carole, Brewer; Shirley, Hodgson; Patrick J., Morrison; Lisa, Walker; Mark T., Rogers; Alan, Donaldson; Huw, Dorkins; Andrew K., Godwin; Betsy, Bove; Dominique Stoppa, Lyonnet; Claude, Houdayer; Bruno, Buecher; A., De Pauw; D. E., Antoine Pauw; Sylvie, Mazoyer; Alain, Calender; Melanie, Leone; Brigitte Bressac De, Paillerets; Olivier, Caron; Hagay, Sobol; Marc, Frenay; Fabienne, Prieur; Sandra, Ferrer; Isabelle, Mortemousque; Saundra, Buys; Mary, Daly; Alexander, Miron; Terry, Mb; Terry, Mu; Mary, Terry; John L., Hopper; John, Em; John M., Esther; Melissa, Southey; David, Goldgar; Christian F., Singer; Anneliese Fink, Retter; Muy Kheng, Tea; D., Geschwantler Kaulich; Daphne, Kaulich; Thomas V. O., Hansen; Finn C., Nielsen; Rosa B., Barkardottir; Mia, Gaudet; Tomas, Kirchhoff; V., Joseph; Joseph, Vijai; Ana Dutra, Clarke; Kenneth, Offit; Marion, Piedmonte; Judy, Kirk; David, Cohn; Jean, Hurteau; John, Byron; James, Fiorica; Amanda E., Toland; Marco, Montagna; Cristina, Oliani; Evgeny, Imyanitov; Claudine, Isaacs; Laima, Tihomirova; Ignacio, Blanco; Conxi, Lazaro; Alex, Teule; J., Del Valle; J., Del Valle; Simon A., Gayther; Kunle, Odunsi; Jenny, Gross; Beth Y., Karlan; Edith, Olah; Soo Hwang, Teo; Patricia A., Ganz; Mary S., Beattie; Cecelia M., Dorfling; E., Jansen Van Rensburg; Elizabeth Van, Rensburg; Orland, Diez; Ava, Kwong; Rita K., Schmutzler; Barbara, Wappenschmidt; Christoph, Engel; Alfons, Meindl; Nina, Ditsch; Norbert, Arnold; Simone, Heidemann; Dieter, Niederacher; Sabine Preisler, Adams; Dorothea, Gadzicki; Raymonda Varon, Mateeva; Helmut, Deissler; Andrea, Gehrig; Christian, Sutter; Karin, Kast; Britta, Fiebig; Dieter, Schafer; Trinidad, Caldes; Miguel De La, Hoya; Heli, Nevanlinna; Taru A., Muranen; Bernard, Lesperance; Amanda B., Spurdle; Susan L., Neuhausen; Yuan C., Ding; Xianshu, Wang; Zachary, Fredericksen; Vernon S., Pankratz; Noralane M., Lindor; Paolo, Peterlongo; Siranoush, Manoukian; Bernard, Peissel; Daniela, Zaffaroni; Bernardo, Bonanni; Loris, Bernard; Riccardo, Dolcetti; Laura, Papi; Ottini, Laura; Paolo, Radice; Mark H., Greene; Jennifer T., Loud; Irene L., Andrulis; Hilmi, Ozcelik; Anna, Mulligan; Gord, Glendon; Mads, Thomassen; Anne Marie, Gerdes; Uffe B., Jensen; Anne Bine, Skytte; Torben A., Kruse; Georgia Chenevix, Trench; Fergus J., Couch; Jacques, Simard; Douglas F., Easton; Cancer Study S. B., Swedish Breast; Research H., Facility; E., Study; Study G., Collaborators; K., Investigators; Swe Brca, Cimba; Embrace, Hebon; Study Gemo, Collaborators; Kconfab, Investigators. - In: BREAST CANCER RESEARCH. - ISSN 1465-5411. - 14:1(2012), pp. R33-1-R33-18. [10.1186/bcr3121]

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

OTTINI, LAURA;
2012

Abstract

Introduction: Several common alleles have been shown to be associated with breast and/or ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2).Methods: To evaluate whether these single nucleotide polymorphisms (SNPs) are associated with breast cancer risk for BRCA1 and BRCA2 carriers, we genotyped these SNPs in 12,599 BRCA1 and 7,132 BRCA2 mutation carriers and analysed the associations with breast cancer risk within a retrospective likelihood framework.Results: Only SNP rs10771399 near PTHLH was associated with breast cancer risk for BRCA1 mutation carriers (per-allele hazard ratio (HR) = 0.87, 95% CI: 0.81 to 0.94, P-trend = 3 × 10 -4). The association was restricted to mutations proven or predicted to lead to absence of protein expression (HR = 0.82, 95% CI: 0.74 to 0.90, P-trend = 3.1 × 10 -5, P-difference = 0.03). Four SNPs were associated with the risk of breast cancer for BRCA2 mutation carriers: rs10995190, P-trend = 0.015; rs1011970, P-trend = 0.048; rs865686, 2df-P = 0.007; rs1292011 2df-P = 0.03. rs10771399 (PTHLH) was predominantly associated with estrogen receptor (ER)-negative breast cancer for BRCA1 mutation carriers (HR = 0.81, 95% CI: 0.74 to 0.90, P-trend = 4 × 10 -5) and there was marginal evidence of association with ER-negative breast cancer for BRCA2 mutation carriers (HR = 0.78, 95% CI: 0.62 to 1.00, P-trend = 0.049).Conclusions: The present findings, in combination with previously identified modifiers of risk, will ultimately lead to more accurate risk prediction and an improved understanding of the disease etiology in BRCA1 and BRCA2 mutation carriers. © 2012 Antoniou et al.; licensee BioMed Central Ltd.
2012
01 Pubblicazione su rivista::01a Articolo in rivista
Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers / Antonis C., Antoniou; Karoline B., Kuchenbaecker; Penny, Soucy; Jonathan, Beesley; Xiaoqing, Chen; Lesley, Mcguffog; Andrew, Lee; Daniel, Barrowdale; Sue, Healey; Olga M., Sinilnikova; Maria A., Caligo; Niklas, Loman; Katja, Harbst; Annika, Lindblom; Brita, Arver; Richard, Rosenquist; Per, Karlsson; Kate, Nathanson; Susan, Domchek; Tim, Rebbeck; Anna, Jakubowska; Jan, Lubinski; Katarzyna, Jaworska; Katarzyna, Durda; E., Zlowocka Perlowska; Elzbieta Złowowcka, Perłowska; Ana, Osorio; Mercedes, Duran; Raquel, Andres; Javier, Benitez; Ute, Hamann; Frans B., Hogervorst; A., Van; Theo A., Van Os; Senno, Verhoef; Hanne E. J., Meijers Heijboer; Juul, Wijnen; Encarna B., Gomez Garcia; Marjolijn J., Ligtenberg; Mieke, Kriege; J., Margriet Collee; Margreet Gem, Ausems; Jan C., Oosterwijk; Susan, Peock; Debra, Frost; Steve D., Ellis; Radka, Platte; Elena, Fineberg; D., Gareth Evans; Fiona, Lalloo; Chris, Jacobs; Ros, Eeles; Julian, Adlard; Rosemarie, Davidson; Trevor, Cole; Jackie, Cook; Joan, Paterson; Fiona, Douglas; Carole, Brewer; Shirley, Hodgson; Patrick J., Morrison; Lisa, Walker; Mark T., Rogers; Alan, Donaldson; Huw, Dorkins; Andrew K., Godwin; Betsy, Bove; Dominique Stoppa, Lyonnet; Claude, Houdayer; Bruno, Buecher; A., De Pauw; D. E., Antoine Pauw; Sylvie, Mazoyer; Alain, Calender; Melanie, Leone; Brigitte Bressac De, Paillerets; Olivier, Caron; Hagay, Sobol; Marc, Frenay; Fabienne, Prieur; Sandra, Ferrer; Isabelle, Mortemousque; Saundra, Buys; Mary, Daly; Alexander, Miron; Terry, Mb; Terry, Mu; Mary, Terry; John L., Hopper; John, Em; John M., Esther; Melissa, Southey; David, Goldgar; Christian F., Singer; Anneliese Fink, Retter; Muy Kheng, Tea; D., Geschwantler Kaulich; Daphne, Kaulich; Thomas V. O., Hansen; Finn C., Nielsen; Rosa B., Barkardottir; Mia, Gaudet; Tomas, Kirchhoff; V., Joseph; Joseph, Vijai; Ana Dutra, Clarke; Kenneth, Offit; Marion, Piedmonte; Judy, Kirk; David, Cohn; Jean, Hurteau; John, Byron; James, Fiorica; Amanda E., Toland; Marco, Montagna; Cristina, Oliani; Evgeny, Imyanitov; Claudine, Isaacs; Laima, Tihomirova; Ignacio, Blanco; Conxi, Lazaro; Alex, Teule; J., Del Valle; J., Del Valle; Simon A., Gayther; Kunle, Odunsi; Jenny, Gross; Beth Y., Karlan; Edith, Olah; Soo Hwang, Teo; Patricia A., Ganz; Mary S., Beattie; Cecelia M., Dorfling; E., Jansen Van Rensburg; Elizabeth Van, Rensburg; Orland, Diez; Ava, Kwong; Rita K., Schmutzler; Barbara, Wappenschmidt; Christoph, Engel; Alfons, Meindl; Nina, Ditsch; Norbert, Arnold; Simone, Heidemann; Dieter, Niederacher; Sabine Preisler, Adams; Dorothea, Gadzicki; Raymonda Varon, Mateeva; Helmut, Deissler; Andrea, Gehrig; Christian, Sutter; Karin, Kast; Britta, Fiebig; Dieter, Schafer; Trinidad, Caldes; Miguel De La, Hoya; Heli, Nevanlinna; Taru A., Muranen; Bernard, Lesperance; Amanda B., Spurdle; Susan L., Neuhausen; Yuan C., Ding; Xianshu, Wang; Zachary, Fredericksen; Vernon S., Pankratz; Noralane M., Lindor; Paolo, Peterlongo; Siranoush, Manoukian; Bernard, Peissel; Daniela, Zaffaroni; Bernardo, Bonanni; Loris, Bernard; Riccardo, Dolcetti; Laura, Papi; Ottini, Laura; Paolo, Radice; Mark H., Greene; Jennifer T., Loud; Irene L., Andrulis; Hilmi, Ozcelik; Anna, Mulligan; Gord, Glendon; Mads, Thomassen; Anne Marie, Gerdes; Uffe B., Jensen; Anne Bine, Skytte; Torben A., Kruse; Georgia Chenevix, Trench; Fergus J., Couch; Jacques, Simard; Douglas F., Easton; Cancer Study S. B., Swedish Breast; Research H., Facility; E., Study; Study G., Collaborators; K., Investigators; Swe Brca, Cimba; Embrace, Hebon; Study Gemo, Collaborators; Kconfab, Investigators. - In: BREAST CANCER RESEARCH. - ISSN 1465-5411. - 14:1(2012), pp. R33-1-R33-18. [10.1186/bcr3121]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/438027
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