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- Lawrenson, Kate, et al.
(author)
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Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
- 2016
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In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7
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Journal article (peer-reviewed)abstract
- A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10-20), ER-negative BC (P=1.1 × 10-13), BRCA1-associated BC (P=7.7 × 10-16) and triple negative BC (P-diff=2 × 10-5). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10-3) and ABHD8 (P<2 × 10-3). Chromosome conformation capture identifies interactions between four candidate SNPs and ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 promoter. Targeted deletion of a region containing risk SNP rs56069439 in a putative enhancer induces ANKLE1 downregulation; and mRNA stability assays indicate functional effects for an ANKLE1 3′-UTR SNP. Altogether, these data suggest that multiple SNPs at 19p13 regulate ABHD8 and perhaps ANKLE1 expression, and indicate common mechanisms underlying breast and ovarian cancer risk.
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| 13. |
- Aad, G., et al.
(author)
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- 2015
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In: Physical Review C (Nuclear Physics). - 0556-2813 .- 1089-490X. ; 92:3
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Journal article (peer-reviewed)
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| 14. |
- Aad, G., et al.
(author)
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- 2015
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In: Physical Review C (Nuclear Physics). - 0556-2813 .- 1089-490X. ; 92:3
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Journal article (peer-reviewed)
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| 15. |
- Aad, G., et al.
(author)
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- 2016
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In: Journal of High Energy Physics. - : Springer. - 1029-8479 .- 1126-6708. ; :1
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Journal article (peer-reviewed)
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| 16. |
- Aad, G., et al.
(author)
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- 2015
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In: Journal of High Energy Physics. - 1029-8479 .- 1126-6708. ; :8
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Journal article (peer-reviewed)
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| 17. |
- Aad, G., et al.
(author)
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- 2015
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Journal article (peer-reviewed)
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| 18. |
- Aad, G., et al.
(author)
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- 2016
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In: Physical Review D. Particles and fields. - : American Physical Society. - 0556-2821 .- 1089-4918. ; 93:1
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- Aad, G, et al.
(author)
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Determination of spin and parity of the Higgs boson in the [Formula: see text] decay channel with the ATLAS detector.
- 2015
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In: European Physical Journal C. Particles and Fields. - : Springer Science and Business Media LLC. - 1434-6044. ; 75:5
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Journal article (peer-reviewed)abstract
- Studies of the spin and parity quantum numbers of the Higgs boson in the [Formula: see text] final state are presented, based on proton-proton collision data collected by the ATLAS detector at the Large Hadron Collider, corresponding to an integrated luminosity of 20.3 fb[Formula: see text] at a centre-of-mass energy of [Formula: see text] TeV. The Standard Model spin-parity [Formula: see text] hypothesis is compared with alternative hypotheses for both spin and CP. The case where the observed resonance is a mixture of the Standard-Model-like Higgs boson and CP-even ([Formula: see text]) or CP-odd ([Formula: see text]) Higgs boson in scenarios beyond the Standard Model is also studied. The data are found to be consistent with the Standard Model prediction and limits are placed on alternative spin and CP hypotheses, including CP mixing in different scenarios.
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