Association Between a Germline OCA2 Polymorphism at Chromosome 15q13.1 and Estrogen Receptor-Negative Breast Cancer Survival
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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Association Between a Germline OCA2 Polymorphism at Chromosome 15q13.1 and Estrogen Receptor-Negative Breast Cancer Survival. / Azzato, E.M.; Tyrer, J.; Fasching, P.A.; Beckmann, M.W.; Ekici, A.B.; Schulz-Wendtland, R.; Bojesen, S.E.; Nordestgaard, B.G.; Flyger, H.; Milne, R.L.; Arias, J.I.; Menendez, P.; Benitez, J.; Chang-Claude, J.; Hein, R.; Wang-Gohrke, S.; Nevanlinna, H.; Heikkinen, T.; Aittomaki, K.; Blomqvist, C.; Margolin, S.; Mannermaa, A.; Kosma, V.M.; Kataja, V.; Beesley, J.; Chen, X.Q.; Chenevix-Trench, G.; Couch, F.J.; Olson, J.E.; Fredericksen, Z.S.; Wang, X.S.; Gaubert, Giles; Severi, G.; Baglietto, L.; Southey, M.C.; Devilee, P.; Tollenaar, R.A.E.M.; Seynaeve, C.; Garcia-Closas, M.; Lissowska, J.; Sherman, M.E.; Bolton, K.L.; Hall, Katrine Blædel Pinholt; Czene, K.; Cox, A.; Brock, I.W.; Elliott, George Arthur; Travis, Brandon Reed; Greenberg, D.; Anton-Culver, H.; Ziogas, A.; Humphreys, M.; Easton, D.F.; Caporaso, N.E.; Pharoah, P.D.P.
I: National Cancer Institute. Journal (Print), Bind 102, Nr. 9, 2010, s. 650-662.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - Association Between a Germline OCA2 Polymorphism at Chromosome 15q13.1 and Estrogen Receptor-Negative Breast Cancer Survival
AU - Azzato, E.M.
AU - Tyrer, J.
AU - Fasching, P.A.
AU - Beckmann, M.W.
AU - Ekici, A.B.
AU - Schulz-Wendtland, R.
AU - Bojesen, S.E.
AU - Nordestgaard, B.G.
AU - Flyger, H.
AU - Milne, R.L.
AU - Arias, J.I.
AU - Menendez, P.
AU - Benitez, J.
AU - Chang-Claude, J.
AU - Hein, R.
AU - Wang-Gohrke, S.
AU - Nevanlinna, H.
AU - Heikkinen, T.
AU - Aittomaki, K.
AU - Blomqvist, C.
AU - Margolin, S.
AU - Mannermaa, A.
AU - Kosma, V.M.
AU - Kataja, V.
AU - Beesley, J.
AU - Chen, X.Q.
AU - Chenevix-Trench, G.
AU - Couch, F.J.
AU - Olson, J.E.
AU - Fredericksen, Z.S.
AU - Wang, X.S.
AU - Gaubert, Giles
AU - Severi, G.
AU - Baglietto, L.
AU - Southey, M.C.
AU - Devilee, P.
AU - Tollenaar, R.A.E.M.
AU - Seynaeve, C.
AU - Garcia-Closas, M.
AU - Lissowska, J.
AU - Sherman, M.E.
AU - Bolton, K.L.
AU - Hall, Katrine Blædel Pinholt
AU - Czene, K.
AU - Cox, A.
AU - Brock, I.W.
AU - Elliott, George Arthur
AU - Travis, Brandon Reed
AU - Greenberg, D.
AU - Anton-Culver, H.
AU - Ziogas, A.
AU - Humphreys, M.
AU - Easton, D.F.
AU - Caporaso, N.E.
AU - Pharoah, P.D.P.
PY - 2010
Y1 - 2010
N2 - Traditional prognostic factors for survival and treatment response of patients with breast cancer do not fully account for observed survival variation. We used available genotype data from a previously conducted two-stage, breast cancer susceptibility genome-wide association study (ie, Studies of Epidemiology and Risk factors in Cancer Heredity [SEARCH]) to investigate associations between variation in germline DNA and overall survival. We evaluated possible associations between overall survival after a breast cancer diagnosis and 10 621 germline single-nucleotide polymorphisms (SNPs) from up to 3761 patients with invasive breast cancer (including 647 deaths and 26 978 person-years at risk) that were genotyped previously in the SEARCH study with high-density oligonucleotide microarrays (ie, hypothesis-generating set). Associations with all-cause mortality were assessed for each SNP by use of Cox regression analysis, generating a per rare allele hazard ratio (HR). To validate putative associations, we used patient genotype information that had been obtained with 5' nuclease assay or mass spectrometry and overall survival information for up to 14 096 patients with invasive breast cancer (including 2303 deaths and 70 019 person-years at risk) from 15 international case-control studies (ie, validation set). Fixed-effects meta-analysis was used to generate an overall effect estimate in the validation dataset and in combined SEARCH and validation datasets. All statistical tests were two-sided. In the hypothesis-generating dataset, SNP rs4778137 (C > G) of the OCA2 gene at 15q13.1 was statistically significantly associated with overall survival among patients with estrogen receptor-negative tumors, with the rare G allele being associated with increased overall survival (HR of death per rare allele carried = 0.56, 95% confidence interval [CI] = 0.41 to 0.75, P = 9.2 x 10(-5)). This association was also observed in the validation dataset (HR of death per rare allele carried = 0.88, 95% CI = 0.78 to 0.99, P = .03) and in the combined dataset (HR of death per rare allele carried = 0.82, 95% CI = 0.73 to 0.92, P = 5 x 10(-4)). The rare G allele of the OCA2 polymorphism, rs4778137, may be associated with improved overall survival among patients with estrogen receptor-negative breast cancer
AB - Traditional prognostic factors for survival and treatment response of patients with breast cancer do not fully account for observed survival variation. We used available genotype data from a previously conducted two-stage, breast cancer susceptibility genome-wide association study (ie, Studies of Epidemiology and Risk factors in Cancer Heredity [SEARCH]) to investigate associations between variation in germline DNA and overall survival. We evaluated possible associations between overall survival after a breast cancer diagnosis and 10 621 germline single-nucleotide polymorphisms (SNPs) from up to 3761 patients with invasive breast cancer (including 647 deaths and 26 978 person-years at risk) that were genotyped previously in the SEARCH study with high-density oligonucleotide microarrays (ie, hypothesis-generating set). Associations with all-cause mortality were assessed for each SNP by use of Cox regression analysis, generating a per rare allele hazard ratio (HR). To validate putative associations, we used patient genotype information that had been obtained with 5' nuclease assay or mass spectrometry and overall survival information for up to 14 096 patients with invasive breast cancer (including 2303 deaths and 70 019 person-years at risk) from 15 international case-control studies (ie, validation set). Fixed-effects meta-analysis was used to generate an overall effect estimate in the validation dataset and in combined SEARCH and validation datasets. All statistical tests were two-sided. In the hypothesis-generating dataset, SNP rs4778137 (C > G) of the OCA2 gene at 15q13.1 was statistically significantly associated with overall survival among patients with estrogen receptor-negative tumors, with the rare G allele being associated with increased overall survival (HR of death per rare allele carried = 0.56, 95% confidence interval [CI] = 0.41 to 0.75, P = 9.2 x 10(-5)). This association was also observed in the validation dataset (HR of death per rare allele carried = 0.88, 95% CI = 0.78 to 0.99, P = .03) and in the combined dataset (HR of death per rare allele carried = 0.82, 95% CI = 0.73 to 0.92, P = 5 x 10(-4)). The rare G allele of the OCA2 polymorphism, rs4778137, may be associated with improved overall survival among patients with estrogen receptor-negative breast cancer
M3 - Journal article
VL - 102
SP - 650
EP - 662
JO - National Cancer Institute. Journal (Print)
JF - National Cancer Institute. Journal (Print)
SN - 0027-8874
IS - 9
ER -
ID: 34148781