Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2

Shahana Ahmed; Gilles Thomas; Maya Ghoussaini; Catherine S Healey; Manjeet K Humphreys; Radka Platte; Jonathan Morrison; Melanie Maranian; Karen A Pooley; Robert Luben; Diana Eccles; D Gareth Evans; Olivia Fletcher; Nichola Johnson; Isabel dos Santos Silva; Julian Peto; Michael R Stratton; Nazneen Rahman; Kevin Jacobs; Ross Prentice; Garnet L Anderson; Aleksandar Rajkovic; J David Curb; Regina G Ziegler; Christine D Berg; Saundra S Buys; Catherine A McCarty; Heather Spencer Feigelson; Eugenia E Calle; Michael J Thun; W Ryan Diver; Stig Bojesen; Børge G Nordestgaard; Henrik Flyger; Thilo Dörk; Peter Schürmann; Peter Hillemanns; Johann H Karstens; Natalia V Bogdanova; Natalia N Antonenkova; Iosif V Zalutsky; Marina Bermisheva; Sardana Fedorova; Elza Khusnutdinova; SEARCH; Daehee Kang; Keun-Young Yoo; Dong Young Noh; Sei-Hyun Ahn; Peter Devilee; Christi J van Asperen; GENICA Consortium; kConFab; Australian Ovarian Cancer Study Group

doi:10.1038/ng.354

Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2

Shahana Ahmed, Gilles Thomas, Maya Ghoussaini, Catherine S Healey, Manjeet K Humphreys, Radka Platte, Jonathan Morrison, Melanie Maranian, Karen A Pooley, Robert Luben, Diana Eccles, D Gareth Evans, Olivia Fletcher, Nichola Johnson, Isabel dos Santos Silva, Julian Peto, Michael R Stratton, Nazneen Rahman, Kevin Jacobs, Ross PrenticeGarnet L Anderson, Aleksandar Rajkovic, J David Curb, Regina G Ziegler, Christine D Berg, Saundra S Buys, Catherine A McCarty, Heather Spencer Feigelson, Eugenia E Calle, Michael J Thun, W Ryan Diver, Stig Bojesen, Børge G Nordestgaard, Henrik Flyger, Thilo Dörk, Peter Schürmann, Peter Hillemanns, Johann H Karstens, Natalia V Bogdanova, Natalia N Antonenkova, Iosif V Zalutsky, Marina Bermisheva, Sardana Fedorova, Elza Khusnutdinova, SEARCH, Daehee Kang, Keun-Young Yoo, Dong Young Noh, Sei-Hyun Ahn, Peter Devilee, Christi J van Asperen, GENICA Consortium, kConFab, Australian Ovarian Cancer Study Group

Department of Clinical Medicine

387 Citations (Scopus)

Abstract

Genome-wide association studies (GWAS) have identified seven breast cancer susceptibility loci, but these explain only a small fraction of the familial risk of the disease. Five of these loci were identified through a two-stage GWAS involving 390 familial cases and 364 controls in the first stage, and 3,990 cases and 3,916 controls in the second stage. To identify additional loci, we tested over 800 promising associations from this GWAS in a further two stages involving 37,012 cases and 40,069 controls from 33 studies in the CGEMS collaboration and Breast Cancer Association Consortium. We found strong evidence for additional susceptibility loci on 3p (rs4973768: per-allele OR = 1.11, 95% CI = 1.08-1.13, P = 4.1 x 10(-23)) and 17q (rs6504950: per-allele OR = 0.95, 95% CI = 0.92-0.97, P = 1.4 x 10(-8)). Potential causative genes include SLC4A7 and NEK10 on 3p and COX11 on 17q.

Original language	English
Journal	Nature Genetics
Volume	41
Issue number	5
Pages (from-to)	585-90
Number of pages	6
ISSN	1061-4036
DOIs	https://doi.org/10.1038/ng.354
Publication status	Published - 2009

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Ahmed, S., Thomas, G., Ghoussaini, M., Healey, C. S., Humphreys, M. K., Platte, R., Morrison, J., Maranian, M., Pooley, K. A., Luben, R., Eccles, D., Evans, D. G., Fletcher, O., Johnson, N., dos Santos Silva, I., Peto, J., Stratton, M. R., Rahman, N., Jacobs, K., ... Australian Ovarian Cancer Study Group (2009). Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nature Genetics, 41(5), 585-90. https://doi.org/10.1038/ng.354

Ahmed, S, Thomas, G, Ghoussaini, M, Healey, CS, Humphreys, MK, Platte, R, Morrison, J, Maranian, M, Pooley, KA, Luben, R, Eccles, D, Evans, DG, Fletcher, O, Johnson, N, dos Santos Silva, I, Peto, J, Stratton, MR, Rahman, N, Jacobs, K, Prentice, R, Anderson, GL, Rajkovic, A, Curb, JD, Ziegler, RG, Berg, CD, Buys, SS, McCarty, CA, Feigelson, HS, Calle, EE, Thun, MJ, Diver, WR, Bojesen, S, Nordestgaard, BG, Flyger, H, Dörk, T, Schürmann, P, Hillemanns, P, Karstens, JH, Bogdanova, NV, Antonenkova, NN, Zalutsky, IV, Bermisheva, M, Fedorova, S, Khusnutdinova, E, SEARCH, Kang, D, Yoo, K-Y, Noh, DY, Ahn, S-H, Devilee, P, van Asperen, CJ, GENICA Consortium, kConFab & Australian Ovarian Cancer Study Group 2009, 'Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2', Nature Genetics, vol. 41, no. 5, pp. 585-90. https://doi.org/10.1038/ng.354

@article{5a083e50829211df928f000ea68e967b,

title = "Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2",

abstract = "Genome-wide association studies (GWAS) have identified seven breast cancer susceptibility loci, but these explain only a small fraction of the familial risk of the disease. Five of these loci were identified through a two-stage GWAS involving 390 familial cases and 364 controls in the first stage, and 3,990 cases and 3,916 controls in the second stage. To identify additional loci, we tested over 800 promising associations from this GWAS in a further two stages involving 37,012 cases and 40,069 controls from 33 studies in the CGEMS collaboration and Breast Cancer Association Consortium. We found strong evidence for additional susceptibility loci on 3p (rs4973768: per-allele OR = 1.11, 95% CI = 1.08-1.13, P = 4.1 x 10(-23)) and 17q (rs6504950: per-allele OR = 0.95, 95% CI = 0.92-0.97, P = 1.4 x 10(-8)). Potential causative genes include SLC4A7 and NEK10 on 3p and COX11 on 17q.",

author = "Shahana Ahmed and Gilles Thomas and Maya Ghoussaini and Healey, {Catherine S} and Humphreys, {Manjeet K} and Radka Platte and Jonathan Morrison and Melanie Maranian and Pooley, {Karen A} and Robert Luben and Diana Eccles and Evans, {D Gareth} and Olivia Fletcher and Nichola Johnson and {dos Santos Silva}, Isabel and Julian Peto and Stratton, {Michael R} and Nazneen Rahman and Kevin Jacobs and Ross Prentice and Anderson, {Garnet L} and Aleksandar Rajkovic and Curb, {J David} and Ziegler, {Regina G} and Berg, {Christine D} and Buys, {Saundra S} and McCarty, {Catherine A} and Feigelson, {Heather Spencer} and Calle, {Eugenia E} and Thun, {Michael J} and Diver, {W Ryan} and Stig Bojesen and Nordestgaard, {B{\o}rge G} and Henrik Flyger and Thilo D{\"o}rk and Peter Sch{\"u}rmann and Peter Hillemanns and Karstens, {Johann H} and Bogdanova, {Natalia V} and Antonenkova, {Natalia N} and Zalutsky, {Iosif V} and Marina Bermisheva and Sardana Fedorova and Elza Khusnutdinova and SEARCH and Daehee Kang and Keun-Young Yoo and Noh, {Dong Young} and Sei-Hyun Ahn and Peter Devilee and {van Asperen}, {Christi J} and {GENICA Consortium} and kConFab and {Australian Ovarian Cancer Study Group}",

note = "Keywords: Breast Neoplasms; Chromosome Mapping; Chromosomes, Human, Pair 17; Chromosomes, Human, Pair 3; Disease Susceptibility; Female; Genetic Predisposition to Disease; Genome, Human; Genotype; Humans",

year = "2009",

doi = "10.1038/ng.354",

language = "English",

volume = "41",

pages = "585--90",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "nature publishing group",

number = "5",

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TY - JOUR

T1 - Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2

AU - Ahmed, Shahana

AU - Thomas, Gilles

AU - Ghoussaini, Maya

AU - Healey, Catherine S

AU - Humphreys, Manjeet K

AU - Platte, Radka

AU - Morrison, Jonathan

AU - Maranian, Melanie

AU - Pooley, Karen A

AU - Luben, Robert

AU - Eccles, Diana

AU - Evans, D Gareth

AU - Fletcher, Olivia

AU - Johnson, Nichola

AU - dos Santos Silva, Isabel

AU - Peto, Julian

AU - Stratton, Michael R

AU - Rahman, Nazneen

AU - Jacobs, Kevin

AU - Prentice, Ross

AU - Anderson, Garnet L

AU - Rajkovic, Aleksandar

AU - Curb, J David

AU - Ziegler, Regina G

AU - Berg, Christine D

AU - Buys, Saundra S

AU - McCarty, Catherine A

AU - Feigelson, Heather Spencer

AU - Calle, Eugenia E

AU - Thun, Michael J

AU - Diver, W Ryan

AU - Bojesen, Stig

AU - Nordestgaard, Børge G

AU - Flyger, Henrik

AU - Dörk, Thilo

AU - Schürmann, Peter

AU - Hillemanns, Peter

AU - Karstens, Johann H

AU - Bogdanova, Natalia V

AU - Antonenkova, Natalia N

AU - Zalutsky, Iosif V

AU - Bermisheva, Marina

AU - Fedorova, Sardana

AU - Khusnutdinova, Elza

AU - SEARCH

AU - Kang, Daehee

AU - Yoo, Keun-Young

AU - Noh, Dong Young

AU - Ahn, Sei-Hyun

AU - Devilee, Peter

AU - van Asperen, Christi J

AU - GENICA Consortium

AU - kConFab

AU - Australian Ovarian Cancer Study Group

N1 - Keywords: Breast Neoplasms; Chromosome Mapping; Chromosomes, Human, Pair 17; Chromosomes, Human, Pair 3; Disease Susceptibility; Female; Genetic Predisposition to Disease; Genome, Human; Genotype; Humans

PY - 2009

Y1 - 2009

N2 - Genome-wide association studies (GWAS) have identified seven breast cancer susceptibility loci, but these explain only a small fraction of the familial risk of the disease. Five of these loci were identified through a two-stage GWAS involving 390 familial cases and 364 controls in the first stage, and 3,990 cases and 3,916 controls in the second stage. To identify additional loci, we tested over 800 promising associations from this GWAS in a further two stages involving 37,012 cases and 40,069 controls from 33 studies in the CGEMS collaboration and Breast Cancer Association Consortium. We found strong evidence for additional susceptibility loci on 3p (rs4973768: per-allele OR = 1.11, 95% CI = 1.08-1.13, P = 4.1 x 10(-23)) and 17q (rs6504950: per-allele OR = 0.95, 95% CI = 0.92-0.97, P = 1.4 x 10(-8)). Potential causative genes include SLC4A7 and NEK10 on 3p and COX11 on 17q.

AB - Genome-wide association studies (GWAS) have identified seven breast cancer susceptibility loci, but these explain only a small fraction of the familial risk of the disease. Five of these loci were identified through a two-stage GWAS involving 390 familial cases and 364 controls in the first stage, and 3,990 cases and 3,916 controls in the second stage. To identify additional loci, we tested over 800 promising associations from this GWAS in a further two stages involving 37,012 cases and 40,069 controls from 33 studies in the CGEMS collaboration and Breast Cancer Association Consortium. We found strong evidence for additional susceptibility loci on 3p (rs4973768: per-allele OR = 1.11, 95% CI = 1.08-1.13, P = 4.1 x 10(-23)) and 17q (rs6504950: per-allele OR = 0.95, 95% CI = 0.92-0.97, P = 1.4 x 10(-8)). Potential causative genes include SLC4A7 and NEK10 on 3p and COX11 on 17q.

U2 - 10.1038/ng.354

DO - 10.1038/ng.354

M3 - Journal article

C2 - 19330027

SN - 1061-4036

VL - 41

SP - 585

EP - 590

JO - Nature Genetics

JF - Nature Genetics

IS - 5

ER -

Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2

Abstract

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