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Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium

Λεπτομέρειες βιβλιογραφικής εγγραφής
Τίτλος: Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium
Συγγραφείς: Figueroa, JD, Garcia-Closas, M, Humphreys, M, Platte, R, Hopper, JL, Southey, MC, Apicella, C, Hammet, F, Schmidt, Marjanka K, Broeks, A, Tollenaar, RAEM, van 't Veer, LJ (Laura), Fasching, PA, Beckmann, MW, Ekici, AB, Strick, R, Peto, J, Silva, ID, Fletcher, O, Johnson, N, Sawyer, E, Tomlinson, I, Kerin, M, Burwinkel, B, Marme, F, Schneeweiss, A, Sohn, C, Bojesen, S, Flyger, H, Nordestgaard, BG, Benitez, J, Milne, RL, Arias, JI, Zamora, MP, Brenner, H, Muller, H, Arndt, V, Rahman, N, Turnbull, C, Seal, S, Renwick, A, Brauch, H, Justenhoven, C, Bruning, T, Chang-Claude, J, Hein, R, Wang-Gohrke, S, Dork, T, Schurmann, P, Bremer, M, Hillemanns, P, Nevanlinna, H, Heikkinen, T, Aittomaki, K, Blomqvist, C, Bogdanova, N, Antonenkova, N, Rogov, YI, Karstens, JH, Bermisheva, M, Prokofieva, D, Gantcev, SH, Khusnutdinova, E, Lindblom, A, Margolin, S, Chenevix-Trench, G, Beesley, J, Chen, XQ, Mannermaa, A, Kosma, VM, Soini, Y, Kataja, V, Lambrechts, D, Yesilyurt, BT, Chrisiaens, MR, Peeters, S, Radice, P, Peterlongo, P, Manoukian, S, Barile, M, Couch, F, Lee, AM, Diasio, R, Wang, XS, Giles, GG, Severi, G, Baglietto, L, Maclean, C, Offit, K, Robson, M, Joseph, V, Gaudet, M, John, EM, Winqvist, R, Pylkas, K, Jukkola-Vuorinen, A, Grip, M, Andrulis, I, Knight, JA, Mulligan, AM, O'Malley, FP, Brinton, LA, Sherman, ME, Lissowska, J, Chanock, SJ, Hooning, Maartje, Martens, John, van den Ouweland, Ans, Collee, Margriet, Hall, P, Czene, K, Cox, A, Brock, IW, Reed, MWR, Cross, SS, Pharoah, P, Dunning, AM, Kang, D, Yoo, KY, Noh, DY, Ahn, SH, Jakubowska, A, Lubinski, J, Jaworska, K, Durda, K, Sangrajrang, S, Gaborieau, V, Brennan, P, Mckay, J, Shen, CY, Ding, SL, Hsu, HM, Yu, JC, Anton-Culver, H, Ziogas, A, Ashworth, A, Swerdlow, A, Jones, M, Orr, N, Trentham-Dietz, A, Egan, K, Newcomb, P, Titus-Ernstoff, L, Easton, D, Spurdle, AB
Πηγή: Figueroa, JD, Garcia-Closas, M, Humphreys, M, Platte, R, Hopper, JL, Southey, MC, Apicella, C, Hammet, F, Schmidt, M K, Broeks, A, Tollenaar, RAEM, van 't Veer, LJ, Fasching, PA, Beckmann, MW, Ekici, AB, Strick, R, Peto, J, Silva, ID, Fletcher, O, Johnson, N, Sawyer, E, Tomlinson, I, Kerin, M, Burwinkel, B, Marme, F, Schneeweiss, A, Sohn, C, Bojesen, S, Flyger, H, Nordestgaard, BG, Benitez, J, Milne, RL, Arias, JI, Zamora, MP, Brenner, H, Muller, H, Arndt, V, Rahman, N, Turnbull, C, Seal, S, Renwick, A, Brauch, H, Justenhoven, C, Bruning, T, Chang-Claude, J, Hein, R, Wang-Gohrke, S, Dork, T, ....
Έτος έκδοσης: 2011
Θεματικοί όροι: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601, name=EMC MGC-02-96-01, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM038601, name=EMC MM-03-86-01, /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being
Περιγραφή: A genome-wide association study (GWAS) identified single-nucleotide polymorphisms (SNPs) at 1p11.2 and 14q24.1 (RAD51L1) as breast cancer susceptibility loci. The initial GWAS suggested stronger effects for both loci for estrogen receptor (ER)-positive tumors. Using data from the Breast Cancer Association Consortium (BCAC), we sought to determine whether risks differ by ER, progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2), grade, node status, tumor size, and ductal or lobular morphology. We genotyped rs11249433 at 1p.11.2, and two highly correlated SNPs rs999737 and rs10483813 (r(2) = 0.98) at 14q24.1 (RAD51L1), for up to 46 036 invasive breast cancer cases and 46 930 controls from 39 studies. Analyses by tumor characteristics focused on subjects reporting to be white women of European ancestry and were based on 25 458 cases, of which 87% had ER data. The SNP at 1p11.2 showed significantly stronger associations with ER-positive tumors [per-allele odds ratio (OR) for ER-positive tumors was 1.13, 95% CI = 1.10-1.16 and, for ER-negative tumors, OR was 1.03, 95% CI = 0.98-1.07, case-only P-heterogeneity = 7.6 x 10 25]. The association with ER-positive tumors was stronger for tumors of lower grade (case-only P = 6.7 x 10 23) and lobular histology (case-only P = 0.01). SNPs at 14q24.1 were associated with risk for most tumor subtypes evaluated, including triple-negative breast cancers, which has not been described previously. Our results underscore the need for large pooling efforts with tumor pathology data to help refine risk estimates for SNP associations with susceptibility to different subtypes of breast cancer.
Τύπος εγγράφου: article in journal/newspaper
Γλώσσα: unknown
ISSN: 0964-6906
1460-2083
Relation: info:eu-repo/semantics/altIdentifier/pmid/21852249; info:eu-repo/semantics/altIdentifier/pissn/0964-6906; info:eu-repo/semantics/altIdentifier/eissn/1460-2083
DOI: 10.1093/hmg/ddr368
Διαθεσιμότητα: https://pure.eur.nl/en/publications/9a4298cd-6347-49e3-8d80-ad708c199c8a
https://doi.org/10.1093/hmg/ddr368
https://hdl.handle.net/1765/55319
Rights: info:eu-repo/semantics/closedAccess
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  – Url: https://resolver.ebsco.com/c/fiv2js/result?sid=EBSCO:edsbas&genre=article&issn=09646906&ISBN=&volume=&issue=&date=20110101&spage=&pages=&title=Figueroa, JD, Garcia-Closas, M, Humphreys, M, Platte, R, Hopper, JL, Southey, MC, Apicella, C, Hammet, F, Schmidt, M K, Broeks, A, Tollenaar, RAEM, van 't Veer, LJ, Fasching, PA, Beckmann, MW, Ekici, AB, Strick, R, Peto, J, Silva, ID, Fletcher, O, Johnson, N, Sawyer, E, Tomlinson, I, Kerin, M, Burwinkel, B, Marme, F, Schneeweiss, A, Sohn, C, Bojesen, S, Flyger, H, Nordestgaard, BG, Benitez, J, Milne, RL, Arias, JI, Zamora, MP, Brenner, H, Muller, H, Arndt, V, Rahman, N, Turnbull, C, Seal, S, Renwick, A, Brauch, H, Justenhoven, C, Bruning, T, Chang-Claude, J, Hein, R, Wang-Gohrke, S, Dork, T, Schurmann, P, Bremer, M, Hillemanns, P, Nevanlinna, H, Heikkinen, T, Aittomaki, K, Blomqvist, C, Bogdanova, N, Antonenkova, N, Rogov, YI, Karstens, JH, Bermisheva, M, Prokofieva, D, Gantcev, SH, Khusnutdinova, E, Lindblom, A, Margolin, S, Chenevix-Trench, G, Beesley, J, Chen, XQ, Mannermaa, A, Kosma, VM, Soini, Y, Kataja, V, Lambrechts, D, Yesilyurt, BT, Chrisiaens, MR, Peeters, S, Radice, P, Peterlongo, P, Manoukian, S, Barile, M, Couch, F, Lee, AM, Diasio, R, Wang, XS, Giles, GG, Severi, G, Baglietto, L, Maclean, C, Offit, K, Robson, M, Joseph, V, Gaudet, M, John, EM, Winqvist, R, Pylkas, K, Jukkola-Vuorinen, A, Grip, M, Andrulis, I, Knight, JA, Mulligan, AM, O'Malley, FP, Brinton, LA, Sherman, ME, Lissowska, J, Chanock, SJ, Hooning, M, Martens, J, van den Ouweland, A, Collee, M, Hall, P, Czene, K, Cox, A, Brock, IW, Reed, MWR, Cross, SS, Pharoah, P, Dunning, AM, Kang, D, Yoo, KY, Noh, DY, Ahn, SH, Jakubowska, A, Lubinski, J, Jaworska, K, Durda, K, Sangrajrang, S, Gaborieau, V, Brennan, P, Mckay, J, Shen, CY, Ding, SL, Hsu, HM, Yu, JC, Anton-Culver, H, Ziogas, A, Ashworth, A, Swerdlow, A, Jones, M, Orr, N, Trentham-Dietz, A, Egan, K, Newcomb, P, Titus-Ernstoff, L, Easton, D & Spurdle, AB 2011, 'Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium', Human Molecular Genetics, vol. 20, no. 23, pp. 4693-4706. https://doi.org/10.1093/hmg/ddr368&atitle=Associations%20of%20common%20variants%20at%201p11.2%20and%2014q24.1%20%28RAD51L1%29%20with%20breast%20cancer%20risk%20and%20heterogeneity%20by%20tumor%20subtype%3A%20findings%20from%20the%20Breast%20Cancer%20Association%20Consortium&aulast=Figueroa%2C%20JD&id=DOI:10.1093/hmg/ddr368
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  Data: Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium
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– Name: TitleSource
  Label: Source
  Group: Src
  Data: Figueroa, JD, Garcia-Closas, M, Humphreys, M, Platte, R, Hopper, JL, Southey, MC, Apicella, C, Hammet, F, Schmidt, M K, Broeks, A, Tollenaar, RAEM, van 't Veer, LJ, Fasching, PA, Beckmann, MW, Ekici, AB, Strick, R, Peto, J, Silva, ID, Fletcher, O, Johnson, N, Sawyer, E, Tomlinson, I, Kerin, M, Burwinkel, B, Marme, F, Schneeweiss, A, Sohn, C, Bojesen, S, Flyger, H, Nordestgaard, BG, Benitez, J, Milne, RL, Arias, JI, Zamora, MP, Brenner, H, Muller, H, Arndt, V, Rahman, N, Turnbull, C, Seal, S, Renwick, A, Brauch, H, Justenhoven, C, Bruning, T, Chang-Claude, J, Hein, R, Wang-Gohrke, S, Dork, T, ....
– Name: DatePubCY
  Label: Publication Year
  Group: Date
  Data: 2011
– Name: Subject
  Label: Subject Terms
  Group: Su
  Data: <searchLink fieldCode="DE" term="%22%2Fdk%2Fatira%2Fpure%2Fkeywords%2Fresearchprograms%2FAFL001000%2FEMCMGC029601%22">/dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601</searchLink><br /><searchLink fieldCode="DE" term="%22name=EMC+MGC-02-96-01%22">name=EMC MGC-02-96-01</searchLink><br /><searchLink fieldCode="DE" term="%22%2Fdk%2Fatira%2Fpure%2Fkeywords%2Fresearchprograms%2FAFL001000%2FEMCMM038601%22">/dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM038601</searchLink><br /><searchLink fieldCode="DE" term="%22name=EMC+MM-03-86-01%22">name=EMC MM-03-86-01</searchLink><br /><searchLink fieldCode="DE" term="%22%2Fdk%2Fatira%2Fpure%2Fsustainabledevelopmentgoals%2Fgood%5Fhealth%5Fand%5Fwell%5Fbeing%22">/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being</searchLink><br /><searchLink fieldCode="DE" term="%22name=SDG+3+-+Good+Health+and+Well-being%22">name=SDG 3 - Good Health and Well-being</searchLink>
– Name: Abstract
  Label: Description
  Group: Ab
  Data: A genome-wide association study (GWAS) identified single-nucleotide polymorphisms (SNPs) at 1p11.2 and 14q24.1 (RAD51L1) as breast cancer susceptibility loci. The initial GWAS suggested stronger effects for both loci for estrogen receptor (ER)-positive tumors. Using data from the Breast Cancer Association Consortium (BCAC), we sought to determine whether risks differ by ER, progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2), grade, node status, tumor size, and ductal or lobular morphology. We genotyped rs11249433 at 1p.11.2, and two highly correlated SNPs rs999737 and rs10483813 (r(2) = 0.98) at 14q24.1 (RAD51L1), for up to 46 036 invasive breast cancer cases and 46 930 controls from 39 studies. Analyses by tumor characteristics focused on subjects reporting to be white women of European ancestry and were based on 25 458 cases, of which 87% had ER data. The SNP at 1p11.2 showed significantly stronger associations with ER-positive tumors [per-allele odds ratio (OR) for ER-positive tumors was 1.13, 95% CI = 1.10-1.16 and, for ER-negative tumors, OR was 1.03, 95% CI = 0.98-1.07, case-only P-heterogeneity = 7.6 x 10 25]. The association with ER-positive tumors was stronger for tumors of lower grade (case-only P = 6.7 x 10 23) and lobular histology (case-only P = 0.01). SNPs at 14q24.1 were associated with risk for most tumor subtypes evaluated, including triple-negative breast cancers, which has not been described previously. Our results underscore the need for large pooling efforts with tumor pathology data to help refine risk estimates for SNP associations with susceptibility to different subtypes of breast cancer.
– Name: TypeDocument
  Label: Document Type
  Group: TypDoc
  Data: article in journal/newspaper
– Name: Language
  Label: Language
  Group: Lang
  Data: unknown
– Name: ISSN
  Label: ISSN
  Group: ISSN
  Data: 0964-6906<br />1460-2083
– Name: NoteTitleSource
  Label: Relation
  Group: SrcInfo
  Data: info:eu-repo/semantics/altIdentifier/pmid/21852249; info:eu-repo/semantics/altIdentifier/pissn/0964-6906; info:eu-repo/semantics/altIdentifier/eissn/1460-2083
– Name: DOI
  Label: DOI
  Group: ID
  Data: 10.1093/hmg/ddr368
– Name: URL
  Label: Availability
  Group: URL
  Data: https://pure.eur.nl/en/publications/9a4298cd-6347-49e3-8d80-ad708c199c8a<br />https://doi.org/10.1093/hmg/ddr368<br />https://hdl.handle.net/1765/55319
– Name: Copyright
  Label: Rights
  Group: Cpyrght
  Data: info:eu-repo/semantics/closedAccess
– Name: AN
  Label: Accession Number
  Group: ID
  Data: edsbas.78152DAF
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=edsbas&AN=edsbas.78152DAF
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      – Type: doi
        Value: 10.1093/hmg/ddr368
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      – Text: unknown
    Subjects:
      – SubjectFull: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601
        Type: general
      – SubjectFull: name=EMC MGC-02-96-01
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      – SubjectFull: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM038601
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      – SubjectFull: name=EMC MM-03-86-01
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    Titles:
      – TitleFull: Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium
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            – TitleFull: Figueroa, JD, Garcia-Closas, M, Humphreys, M, Platte, R, Hopper, JL, Southey, MC, Apicella, C, Hammet, F, Schmidt, M K, Broeks, A, Tollenaar, RAEM, van 't Veer, LJ, Fasching, PA, Beckmann, MW, Ekici, AB, Strick, R, Peto, J, Silva, ID, Fletcher, O, Johnson, N, Sawyer, E, Tomlinson, I, Kerin, M, Burwinkel, B, Marme, F, Schneeweiss, A, Sohn, C, Bojesen, S, Flyger, H, Nordestgaard, BG, Benitez, J, Milne, RL, Arias, JI, Zamora, MP, Brenner, H, Muller, H, Arndt, V, Rahman, N, Turnbull, C, Seal, S, Renwick, A, Brauch, H, Justenhoven, C, Bruning, T, Chang-Claude, J, Hein, R, Wang-Gohrke, S, Dork, T, Schurmann, P, Bremer, M, Hillemanns, P, Nevanlinna, H, Heikkinen, T, Aittomaki, K, Blomqvist, C, Bogdanova, N, Antonenkova, N, Rogov, YI, Karstens, JH, Bermisheva, M, Prokofieva, D, Gantcev, SH, Khusnutdinova, E, Lindblom, A, Margolin, S, Chenevix-Trench, G, Beesley, J, Chen, XQ, Mannermaa, A, Kosma, VM, Soini, Y, Kataja, V, Lambrechts, D, Yesilyurt, BT, Chrisiaens, MR, Peeters, S, Radice, P, Peterlongo, P, Manoukian, S, Barile, M, Couch, F, Lee, AM, Diasio, R, Wang, XS, Giles, GG, Severi, G, Baglietto, L, Maclean, C, Offit, K, Robson, M, Joseph, V, Gaudet, M, John, EM, Winqvist, R, Pylkas, K, Jukkola-Vuorinen, A, Grip, M, Andrulis, I, Knight, JA, Mulligan, AM, O'Malley, FP, Brinton, LA, Sherman, ME, Lissowska, J, Chanock, SJ, Hooning, M, Martens, J, van den Ouweland, A, Collee, M, Hall, P, Czene, K, Cox, A, Brock, IW, Reed, MWR, Cross, SS, Pharoah, P, Dunning, AM, Kang, D, Yoo, KY, Noh, DY, Ahn, SH, Jakubowska, A, Lubinski, J, Jaworska, K, Durda, K, Sangrajrang, S, Gaborieau, V, Brennan, P, Mckay, J, Shen, CY, Ding, SL, Hsu, HM, Yu, JC, Anton-Culver, H, Ziogas, A, Ashworth, A, Swerdlow, A, Jones, M, Orr, N, Trentham-Dietz, A, Egan, K, Newcomb, P, Titus-Ernstoff, L, Easton, D & Spurdle, AB 2011, 'Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium', Human Molecular Genetics, vol. 20, no. 23, pp. 4693-4706. https://doi.org/10.1093/hmg/ddr368
              Type: main
ResultId 1