Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk

Nick Orr; Alina Lemnrau; Rosie Cooke; Olivia Fletcher; Katarzyna Tomczyk; Michael Jones; Nichola Johnson; Christopher J Lord; Costas Mitsopoulos; Marketa Zvelebil; Simon S McDade; Gemma Buck; Christine Blancher; Alison H Trainer; Paul A James; Stig E Bojesen; Susanne Bokmand; Heli Nevanlinna; Johanna Mattson; Eitan Friedman; Yael Laitman; Domenico Palli; Giovanna Masala; Ines Zanna; Laura Ottini; Giuseppe Giannini; Antoinette Hollestelle; Ans M W van den Ouweland; Srdjan Novaković; Mateja Krajc; Manuela Gago-Dominguez; Jose Esteban Castelao; Håkan Olsson; Ingrid Hedenfalk; Douglas F Easton; Paul D P Pharoah; Alison M Dunning; D Timothy Bishop; Susan L Neuhausen; Linda Steele; Richard S Houlston; Montserrat Garcia-Closas; Alan Ashworth; Anthony J Swerdlow; KConFab Consortium

doi:10.1038/ng.2417

Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk

Nick Orr, Alina Lemnrau, Rosie Cooke, Olivia Fletcher, Katarzyna Tomczyk, Michael Jones, Nichola Johnson, Christopher J Lord, Costas Mitsopoulos, Marketa Zvelebil, Simon S McDade, Gemma Buck, Christine Blancher, Alison H Trainer, Paul A James, Stig E Bojesen, Susanne Bokmand, Heli Nevanlinna, Johanna Mattson, Eitan FriedmanYael Laitman, Domenico Palli, Giovanna Masala, Ines Zanna, Laura Ottini, Giuseppe Giannini, Antoinette Hollestelle, Ans M W van den Ouweland, Srdjan Novaković, Mateja Krajc, Manuela Gago-Dominguez, Jose Esteban Castelao, Håkan Olsson, Ingrid Hedenfalk, Douglas F Easton, Paul D P Pharoah, Alison M Dunning, D Timothy Bishop, Susan L Neuhausen, Linda Steele, Richard S Houlston, Montserrat Garcia-Closas, Alan Ashworth, Anthony J Swerdlow, KConFab Consortium

Breast Surgery

90 Citations (Scopus)

Abstract

We conducted a genome-wide association study of male breast cancer comprising 823 cases and 2,795 controls of European ancestry, with validation in independent sample sets totaling 438 cases and 474 controls. A SNP in RAD51B at 14q24.1 was significantly associated with male breast cancer risk (P = 3.02 × 10(-13); odds ratio (OR) = 1.57). We also refine association at 16q12.1 to a SNP within TOX3 (P = 3.87 × 10(-15); OR = 1.50).

Original language	English
Journal	Nature Genetics
Volume	44
Issue number	11
Pages (from-to)	1182-4
Number of pages	3
ISSN	1061-4036
DOIs	https://doi.org/10.1038/ng.2417
Publication status	Published - 2012

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Orr, N., Lemnrau, A., Cooke, R., Fletcher, O., Tomczyk, K., Jones, M., Johnson, N., Lord, C. J., Mitsopoulos, C., Zvelebil, M., McDade, S. S., Buck, G., Blancher, C., Trainer, A. H., James, P. A., Bojesen, S. E., Bokmand, S., Nevanlinna, H., Mattson, J., ... KConFab Consortium (2012). Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk. Nature Genetics, 44(11), 1182-4. https://doi.org/10.1038/ng.2417

Orr, N, Lemnrau, A, Cooke, R, Fletcher, O, Tomczyk, K, Jones, M, Johnson, N, Lord, CJ, Mitsopoulos, C, Zvelebil, M, McDade, SS, Buck, G, Blancher, C, Trainer, AH, James, PA, Bojesen, SE, Bokmand, S, Nevanlinna, H, Mattson, J, Friedman, E, Laitman, Y, Palli, D, Masala, G, Zanna, I, Ottini, L, Giannini, G, Hollestelle, A, Ouweland, AMWVD, Novaković, S, Krajc, M, Gago-Dominguez, M, Castelao, JE, Olsson, H, Hedenfalk, I, Easton, DF, Pharoah, PDP, Dunning, AM, Bishop, DT, Neuhausen, SL, Steele, L, Houlston, RS, Garcia-Closas, M, Ashworth, A, Swerdlow, AJ & KConFab Consortium 2012, 'Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk', Nature Genetics, vol. 44, no. 11, pp. 1182-4. https://doi.org/10.1038/ng.2417

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title = "Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk",

abstract = "We conducted a genome-wide association study of male breast cancer comprising 823 cases and 2,795 controls of European ancestry, with validation in independent sample sets totaling 438 cases and 474 controls. A SNP in RAD51B at 14q24.1 was significantly associated with male breast cancer risk (P = 3.02 × 10(-13); odds ratio (OR) = 1.57). We also refine association at 16q12.1 to a SNP within TOX3 (P = 3.87 × 10(-15); OR = 1.50).",

author = "Nick Orr and Alina Lemnrau and Rosie Cooke and Olivia Fletcher and Katarzyna Tomczyk and Michael Jones and Nichola Johnson and Lord, {Christopher J} and Costas Mitsopoulos and Marketa Zvelebil and McDade, {Simon S} and Gemma Buck and Christine Blancher and Trainer, {Alison H} and James, {Paul A} and Bojesen, {Stig E} and Susanne Bokmand and Heli Nevanlinna and Johanna Mattson and Eitan Friedman and Yael Laitman and Domenico Palli and Giovanna Masala and Ines Zanna and Laura Ottini and Giuseppe Giannini and Antoinette Hollestelle and Ouweland, {Ans M W van den} and Srdjan Novakovi{\'c} and Mateja Krajc and Manuela Gago-Dominguez and Castelao, {Jose Esteban} and H{\aa}kan Olsson and Ingrid Hedenfalk and Easton, {Douglas F} and Pharoah, {Paul D P} and Dunning, {Alison M} and Bishop, {D Timothy} and Neuhausen, {Susan L} and Linda Steele and Houlston, {Richard S} and Montserrat Garcia-Closas and Alan Ashworth and Swerdlow, {Anthony J} and {KConFab Consortium}",

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AU - Jones, Michael

AU - Johnson, Nichola

AU - Lord, Christopher J

AU - Mitsopoulos, Costas

AU - Zvelebil, Marketa

AU - McDade, Simon S

AU - Buck, Gemma

AU - Blancher, Christine

AU - Trainer, Alison H

AU - James, Paul A

AU - Bojesen, Stig E

AU - Bokmand, Susanne

AU - Nevanlinna, Heli

AU - Mattson, Johanna

AU - Friedman, Eitan

AU - Laitman, Yael

AU - Palli, Domenico

AU - Masala, Giovanna

AU - Zanna, Ines

AU - Ottini, Laura

AU - Giannini, Giuseppe

AU - Hollestelle, Antoinette

AU - Ouweland, Ans M W van den

AU - Novaković, Srdjan

AU - Krajc, Mateja

AU - Gago-Dominguez, Manuela

AU - Castelao, Jose Esteban

AU - Olsson, Håkan

AU - Hedenfalk, Ingrid

AU - Easton, Douglas F

AU - Pharoah, Paul D P

AU - Dunning, Alison M

AU - Bishop, D Timothy

AU - Neuhausen, Susan L

AU - Steele, Linda

AU - Houlston, Richard S

AU - Garcia-Closas, Montserrat

AU - Ashworth, Alan

AU - Swerdlow, Anthony J

AU - KConFab Consortium

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N2 - We conducted a genome-wide association study of male breast cancer comprising 823 cases and 2,795 controls of European ancestry, with validation in independent sample sets totaling 438 cases and 474 controls. A SNP in RAD51B at 14q24.1 was significantly associated with male breast cancer risk (P = 3.02 × 10(-13); odds ratio (OR) = 1.57). We also refine association at 16q12.1 to a SNP within TOX3 (P = 3.87 × 10(-15); OR = 1.50).

AB - We conducted a genome-wide association study of male breast cancer comprising 823 cases and 2,795 controls of European ancestry, with validation in independent sample sets totaling 438 cases and 474 controls. A SNP in RAD51B at 14q24.1 was significantly associated with male breast cancer risk (P = 3.02 × 10(-13); odds ratio (OR) = 1.57). We also refine association at 16q12.1 to a SNP within TOX3 (P = 3.87 × 10(-15); OR = 1.50).

U2 - 10.1038/ng.2417

DO - 10.1038/ng.2417

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SP - 1182

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JO - Nature Genetics

JF - Nature Genetics

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ER -

Genome-wide association study identifies a common variant in RAD51B associated with male breast cancer risk

Abstract

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