Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA

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Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA. / Earp, Madalene A; Kelemen, Linda E; Magliocco, Anthony M; Swenerton, Kenneth D; Chenevix-Trench, Georgia; Lu, Yi; Hein, Alexander; Ekici, Arif B; Beckmann, Matthias W; Fasching, Peter A; Lambrechts, Diether; Despierre, Evelyn; Vergote, Ignace; Lambrechts, Sandrina; Doherty, Jennifer A; Rossing, Mary Anne; Chang-Claude, Jenny; Rudolph, Anja; Friel, Grace; Moysich, Kirsten B; Odunsi, Kunle; Sucheston-Campbell, Lara; Lurie, Galina; Goodman, Marc T; Carney, Michael E; Thompson, Pamela J; Runnebaum, Ingo B; Dürst, Matthias; Hillemanns, Peter; Dörk, Thilo; Antonenkova, Natalia; Bogdanova, Natalia; Leminen, Arto; Nevanlinna, Heli; Pelttari, Liisa M; Butzow, Ralf; Bunker, Clareann H; Modugno, Francesmary; Edwards, Robert P; Ness, Roberta B; du Bois, Andreas; Heitz, Florian; Schwaab, Ira; Harter, Philipp; Karlan, Beth Y; Walsh, Christine; Lester, Jenny; Jensen, Allan; Kjær, Susanne K; Høgdall, Claus K; Australian Cancer Study.

I: Human Genetics, Bind 133, Nr. 5, 2014, s. 481-497.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Earp, MA, Kelemen, LE, Magliocco, AM, Swenerton, KD, Chenevix-Trench, G, Lu, Y, Hein, A, Ekici, AB, Beckmann, MW, Fasching, PA, Lambrechts, D, Despierre, E, Vergote, I, Lambrechts, S, Doherty, JA, Rossing, MA, Chang-Claude, J, Rudolph, A, Friel, G, Moysich, KB, Odunsi, K, Sucheston-Campbell, L, Lurie, G, Goodman, MT, Carney, ME, Thompson, PJ, Runnebaum, IB, Dürst, M, Hillemanns, P, Dörk, T, Antonenkova, N, Bogdanova, N, Leminen, A, Nevanlinna, H, Pelttari, LM, Butzow, R, Bunker, CH, Modugno, F, Edwards, RP, Ness, RB, du Bois, A, Heitz, F, Schwaab, I, Harter, P, Karlan, BY, Walsh, C, Lester, J, Jensen, A, Kjær, SK, Høgdall, CK & Australian Cancer Study 2014, 'Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA', Human Genetics, bind 133, nr. 5, s. 481-497. https://doi.org/10.1007/s00439-013-1383-3

APA

Earp, M. A., Kelemen, L. E., Magliocco, A. M., Swenerton, K. D., Chenevix-Trench, G., Lu, Y., Hein, A., Ekici, A. B., Beckmann, M. W., Fasching, P. A., Lambrechts, D., Despierre, E., Vergote, I., Lambrechts, S., Doherty, J. A., Rossing, M. A., Chang-Claude, J., Rudolph, A., Friel, G., ... Australian Cancer Study (2014). Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA. Human Genetics, 133(5), 481-497. https://doi.org/10.1007/s00439-013-1383-3

Vancouver

Earp MA, Kelemen LE, Magliocco AM, Swenerton KD, Chenevix-Trench G, Lu Y o.a. Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA. Human Genetics. 2014;133(5):481-497. https://doi.org/10.1007/s00439-013-1383-3

Author

Earp, Madalene A ; Kelemen, Linda E ; Magliocco, Anthony M ; Swenerton, Kenneth D ; Chenevix-Trench, Georgia ; Lu, Yi ; Hein, Alexander ; Ekici, Arif B ; Beckmann, Matthias W ; Fasching, Peter A ; Lambrechts, Diether ; Despierre, Evelyn ; Vergote, Ignace ; Lambrechts, Sandrina ; Doherty, Jennifer A ; Rossing, Mary Anne ; Chang-Claude, Jenny ; Rudolph, Anja ; Friel, Grace ; Moysich, Kirsten B ; Odunsi, Kunle ; Sucheston-Campbell, Lara ; Lurie, Galina ; Goodman, Marc T ; Carney, Michael E ; Thompson, Pamela J ; Runnebaum, Ingo B ; Dürst, Matthias ; Hillemanns, Peter ; Dörk, Thilo ; Antonenkova, Natalia ; Bogdanova, Natalia ; Leminen, Arto ; Nevanlinna, Heli ; Pelttari, Liisa M ; Butzow, Ralf ; Bunker, Clareann H ; Modugno, Francesmary ; Edwards, Robert P ; Ness, Roberta B ; du Bois, Andreas ; Heitz, Florian ; Schwaab, Ira ; Harter, Philipp ; Karlan, Beth Y ; Walsh, Christine ; Lester, Jenny ; Jensen, Allan ; Kjær, Susanne K ; Høgdall, Claus K ; Australian Cancer Study. / Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA. I: Human Genetics. 2014 ; Bind 133, Nr. 5. s. 481-497.

Bibtex

@article{9e7d1883751941538a747e00794e5a1b,
title = "Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA",
abstract = "Epithelial ovarian cancer (EOC) is a heterogeneous cancer with both genetic and environmental risk factors. Variants influencing the risk of developing the less-common EOC subtypes have not been fully investigated. We performed a genome-wide association study (GWAS) of EOC according to subtype by pooling genomic DNA from 545 cases and 398 controls of European descent, and testing for allelic associations. We evaluated for replication 188 variants from the GWAS [56 variants for mucinous, 55 for endometrioid and clear cell, 53 for low-malignant potential (LMP) serous, and 24 for invasive serous EOC], selected using pre-defined criteria. Genotypes from 13,188 cases and 23,164 controls of European descent were used to perform unconditional logistic regression under the log-additive genetic model; odds ratios (OR) and 95 % confidence intervals are reported. Nine variants tagging six loci were associated with subtype-specific EOC risk at P < 0.05, and had an OR that agreed in direction of effect with the GWAS results. Several of these variants are in or near genes with a biological rationale for conferring EOC risk, including ZFP36L1 and RAD51B for mucinous EOC (rs17106154, OR = 1.17, P = 0.029, n = 1,483 cases), GRB10 for endometrioid and clear cell EOC (rs2190503, P = 0.014, n = 2,903 cases), and C22orf26/BPIL2 for LMP serous EOC (rs9609538, OR = 0.86, P = 0.0043, n = 892 cases). In analyses that included the 75 GWAS samples, the association between rs9609538 (OR = 0.84, P = 0.0007) and LMP serous EOC risk remained statistically significant at P < 0.0012 adjusted for multiple testing. Replication in additional samples will be important to verify these results for the less-common EOC subtypes.",
keywords = "Alleles, DNA, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Neoplasms, Glandular and Epithelial, Ovarian Neoplasms, Polymorphism, Single Nucleotide, Quality Control",
author = "Earp, {Madalene A} and Kelemen, {Linda E} and Magliocco, {Anthony M} and Swenerton, {Kenneth D} and Georgia Chenevix-Trench and Yi Lu and Alexander Hein and Ekici, {Arif B} and Beckmann, {Matthias W} and Fasching, {Peter A} and Diether Lambrechts and Evelyn Despierre and Ignace Vergote and Sandrina Lambrechts and Doherty, {Jennifer A} and Rossing, {Mary Anne} and Jenny Chang-Claude and Anja Rudolph and Grace Friel and Moysich, {Kirsten B} and Kunle Odunsi and Lara Sucheston-Campbell and Galina Lurie and Goodman, {Marc T} and Carney, {Michael E} and Thompson, {Pamela J} and Runnebaum, {Ingo B} and Matthias D{\"u}rst and Peter Hillemanns and Thilo D{\"o}rk and Natalia Antonenkova and Natalia Bogdanova and Arto Leminen and Heli Nevanlinna and Pelttari, {Liisa M} and Ralf Butzow and Bunker, {Clareann H} and Francesmary Modugno and Edwards, {Robert P} and Ness, {Roberta B} and {du Bois}, Andreas and Florian Heitz and Ira Schwaab and Philipp Harter and Karlan, {Beth Y} and Christine Walsh and Jenny Lester and Allan Jensen and Kj{\ae}r, {Susanne K} and H{\o}gdall, {Claus K} and {Australian Cancer Study}",
year = "2014",
doi = "10.1007/s00439-013-1383-3",
language = "English",
volume = "133",
pages = "481--497",
journal = "Human Genetics",
issn = "0340-6717",
publisher = "Springer",
number = "5",

}

RIS

TY - JOUR

T1 - Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA

AU - Earp, Madalene A

AU - Kelemen, Linda E

AU - Magliocco, Anthony M

AU - Swenerton, Kenneth D

AU - Chenevix-Trench, Georgia

AU - Lu, Yi

AU - Hein, Alexander

AU - Ekici, Arif B

AU - Beckmann, Matthias W

AU - Fasching, Peter A

AU - Lambrechts, Diether

AU - Despierre, Evelyn

AU - Vergote, Ignace

AU - Lambrechts, Sandrina

AU - Doherty, Jennifer A

AU - Rossing, Mary Anne

AU - Chang-Claude, Jenny

AU - Rudolph, Anja

AU - Friel, Grace

AU - Moysich, Kirsten B

AU - Odunsi, Kunle

AU - Sucheston-Campbell, Lara

AU - Lurie, Galina

AU - Goodman, Marc T

AU - Carney, Michael E

AU - Thompson, Pamela J

AU - Runnebaum, Ingo B

AU - Dürst, Matthias

AU - Hillemanns, Peter

AU - Dörk, Thilo

AU - Antonenkova, Natalia

AU - Bogdanova, Natalia

AU - Leminen, Arto

AU - Nevanlinna, Heli

AU - Pelttari, Liisa M

AU - Butzow, Ralf

AU - Bunker, Clareann H

AU - Modugno, Francesmary

AU - Edwards, Robert P

AU - Ness, Roberta B

AU - du Bois, Andreas

AU - Heitz, Florian

AU - Schwaab, Ira

AU - Harter, Philipp

AU - Karlan, Beth Y

AU - Walsh, Christine

AU - Lester, Jenny

AU - Jensen, Allan

AU - Kjær, Susanne K

AU - Høgdall, Claus K

AU - Australian Cancer Study

PY - 2014

Y1 - 2014

N2 - Epithelial ovarian cancer (EOC) is a heterogeneous cancer with both genetic and environmental risk factors. Variants influencing the risk of developing the less-common EOC subtypes have not been fully investigated. We performed a genome-wide association study (GWAS) of EOC according to subtype by pooling genomic DNA from 545 cases and 398 controls of European descent, and testing for allelic associations. We evaluated for replication 188 variants from the GWAS [56 variants for mucinous, 55 for endometrioid and clear cell, 53 for low-malignant potential (LMP) serous, and 24 for invasive serous EOC], selected using pre-defined criteria. Genotypes from 13,188 cases and 23,164 controls of European descent were used to perform unconditional logistic regression under the log-additive genetic model; odds ratios (OR) and 95 % confidence intervals are reported. Nine variants tagging six loci were associated with subtype-specific EOC risk at P < 0.05, and had an OR that agreed in direction of effect with the GWAS results. Several of these variants are in or near genes with a biological rationale for conferring EOC risk, including ZFP36L1 and RAD51B for mucinous EOC (rs17106154, OR = 1.17, P = 0.029, n = 1,483 cases), GRB10 for endometrioid and clear cell EOC (rs2190503, P = 0.014, n = 2,903 cases), and C22orf26/BPIL2 for LMP serous EOC (rs9609538, OR = 0.86, P = 0.0043, n = 892 cases). In analyses that included the 75 GWAS samples, the association between rs9609538 (OR = 0.84, P = 0.0007) and LMP serous EOC risk remained statistically significant at P < 0.0012 adjusted for multiple testing. Replication in additional samples will be important to verify these results for the less-common EOC subtypes.

AB - Epithelial ovarian cancer (EOC) is a heterogeneous cancer with both genetic and environmental risk factors. Variants influencing the risk of developing the less-common EOC subtypes have not been fully investigated. We performed a genome-wide association study (GWAS) of EOC according to subtype by pooling genomic DNA from 545 cases and 398 controls of European descent, and testing for allelic associations. We evaluated for replication 188 variants from the GWAS [56 variants for mucinous, 55 for endometrioid and clear cell, 53 for low-malignant potential (LMP) serous, and 24 for invasive serous EOC], selected using pre-defined criteria. Genotypes from 13,188 cases and 23,164 controls of European descent were used to perform unconditional logistic regression under the log-additive genetic model; odds ratios (OR) and 95 % confidence intervals are reported. Nine variants tagging six loci were associated with subtype-specific EOC risk at P < 0.05, and had an OR that agreed in direction of effect with the GWAS results. Several of these variants are in or near genes with a biological rationale for conferring EOC risk, including ZFP36L1 and RAD51B for mucinous EOC (rs17106154, OR = 1.17, P = 0.029, n = 1,483 cases), GRB10 for endometrioid and clear cell EOC (rs2190503, P = 0.014, n = 2,903 cases), and C22orf26/BPIL2 for LMP serous EOC (rs9609538, OR = 0.86, P = 0.0043, n = 892 cases). In analyses that included the 75 GWAS samples, the association between rs9609538 (OR = 0.84, P = 0.0007) and LMP serous EOC risk remained statistically significant at P < 0.0012 adjusted for multiple testing. Replication in additional samples will be important to verify these results for the less-common EOC subtypes.

KW - Alleles

KW - DNA

KW - Female

KW - Genetic Predisposition to Disease

KW - Genome-Wide Association Study

KW - Humans

KW - Neoplasms, Glandular and Epithelial

KW - Ovarian Neoplasms

KW - Polymorphism, Single Nucleotide

KW - Quality Control

U2 - 10.1007/s00439-013-1383-3

DO - 10.1007/s00439-013-1383-3

M3 - Journal article

C2 - 24190013

VL - 133

SP - 481

EP - 497

JO - Human Genetics

JF - Human Genetics

SN - 0340-6717

IS - 5

ER -

ID: 138739316