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A Swedish Familial ...
A Swedish Familial Genome-Wide Haplotype Analysis Identified Five Novel Breast Cancer Susceptibility Loci on 9p24.3, 11q22.3, 15q11.2, 16q24.1 and Xq21.31
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- Barnekow, Elin (author)
- Karolinska Institutet
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- Hasslow, Johan (author)
- Soder Sjukhuset, Dept Oncol, S-11883 Stockholm, Sweden.
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- Liu, Wen (author)
- Uppsala universitet,Institutionen för kirurgiska vetenskaper,Karolinska Inst, Dept Mol Med & Surg, S-17176 Stockholm, Sweden.
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- Bryant, Patrick (author)
- Stockholms universitet,Institutionen för biokemi och biofysik,Science for Life Laboratory (SciLifeLab),Karolinska Institutet, Sweden,Karolinska Inst, Dept Mol Med & Surg, S-17176 Stockholm, Sweden.;Stockholm Univ, Dept Biochem & Biophys, S-17165 Stockholm, Sweden.;Sci Life Lab, S-17165 Stockholm, Sweden.
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- Thutkawkorapin, Jessada (author)
- Karolinska Inst, Dept Mol Med & Surg, S-17176 Stockholm, Sweden.
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- Wendt, Camilla (author)
- Karolinska Institutet
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- Czene, Kamila (author)
- Karolinska Institutet
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- Hall, Per (author)
- Karolinska Institutet
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- Margolin, Sara (author)
- Karolinska Institutet
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- Lindblom, Annika (author)
- Karolinska Institutet
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Karolinska Institutet Soder Sjukhuset, Dept Oncol, S-11883 Stockholm, Sweden (creator_code:org_t)
- 2023-02-24
- 2023
- English.
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In: International Journal of Molecular Sciences. - : MDPI AG. - 1661-6596 .- 1422-0067. ; 24:5
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Abstract
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- Most breast cancer heritability is unexplained. We hypothesized that analysis of unrelated familial cases in a GWAS context could enable the identification of novel susceptibility loci. In order to examine the association of a haplotype with breast cancer risk, we performed a genome-wide haplotype association study using a sliding window analysis of window sizes 1–25 SNPs in 650 familial invasive breast cancer cases and 5021 controls. We identified five novel risk loci on 9p24.3 (OR 3.4; p 4.9 × 10−11), 11q22.3 (OR 2.4; p 5.2 × 10−9), 15q11.2 (OR 3.6; p 2.3 × 10−8), 16q24.1 (OR 3; p 3 × 10−8) and Xq21.31 (OR 3.3; p 1.7 × 10−8) and confirmed three well-known loci on 10q25.13, 11q13.3, and 16q12.1. In total, 1593 significant risk haplotypes and 39 risk SNPs were distributed on the eight loci. In comparison with unselected breast cancer cases from a previous study, the OR was increased in the familial analysis in all eight loci. Analyzing familial cancer cases and controls enabled the identification of novel breast cancer susceptibility loci.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Cell- och molekylärbiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Cell and Molecular Biology (hsv//eng)
Keyword
- GWAS
- breast cancer
- haplotype
- familial
- risk loci
- SMARCA2
- GRIA4
- TGIF2LX
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Barnekow, Elin
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Hasslow, Johan
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Liu, Wen
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Bryant, Patrick
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Thutkawkorapin, ...
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Wendt, Camilla
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Czene, Kamila
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Hall, Per
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Margolin, Sara
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Lindblom, Annika
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cancer and Oncol ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Cell and Molecul ...
- Articles in the publication
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International Jo ...
- By the university
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Stockholm University
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Uppsala University
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Karolinska Institutet