{"entity": "researcher", "timestamp": "2026-08-20T21:59:32.225Z", "family": "Lindblom", "given": "Annika", "initials": "A", "orcid": "0000-0001-7675-7569", "affiliations": ["Department of Molecular Medicine and Surgery, Karolinska Institutet, 17176 Stockholm, Sweden.", "Department of Clinical Genetics, Karolinska University Hospital, 17164 Stockholm, Sweden."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/3e02a7812ec342ab88bf638ba09f47f8.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/3e02a7812ec342ab88bf638ba09f47f8"}}, "publications": [{"entity": "publication", "iuid": "7bb4a3f814ba4143977167cdfeb47159", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/7bb4a3f814ba4143977167cdfeb47159.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/7bb4a3f814ba4143977167cdfeb47159"}}, "title": "A Swedish Genome-Wide Haplotype Association Analysis Identifies a Novel Breast Cancer Susceptibility Locus in 8p21.2 and Characterizes Three Loci on Chromosomes 10, 11 and 16.", "authors": [{"family": "Barnekow", "given": "Elin", "initials": "E", "orcid": "0000-0002-4960-664X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4d1565675a50453db71ed36cf1a90eb1.json"}}, {"family": "Liu", "given": "Wen", "initials": "W"}, {"family": "Helgadottir", "given": "Hafdis T", "initials": "HT", "orcid": "0000-0003-4352-152X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1a706bf443234460b87378cb4a554e6c.json"}}, {"family": "Michailidou", "given": "Kyriaki", "initials": "K", "orcid": "0000-0001-7065-1237", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d02c4c4067b44686a6d229ee5fcba2df.json"}}, {"family": "Dennis", "given": "Joe", "initials": "J", "orcid": "0000-0003-4591-1214", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/032b9f64191b4deb9ed0bfa6e56652ed.json"}}, {"family": "Bryant", "given": "Patrick", "initials": "P"}, {"family": "Thutkawkorapin", "given": "Jessada", "initials": "J"}, {"family": "Wendt", "given": "Camilla", "initials": "C"}, {"family": "Czene", "given": "Kamila", "initials": "K"}, {"family": "Hall", "given": "Per", "initials": "P", "orcid": "0000-0002-5640-9126", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d59cc296ca1649ceb0d0734d20f1510a.json"}}, {"family": "Margolin", "given": "Sara", "initials": "S"}, {"family": "Lindblom", "given": "Annika", "initials": "A", "orcid": "0000-0001-7675-7569", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3e02a7812ec342ab88bf638ba09f47f8.json"}}], "type": "journal article", "published": "2022-02-25", "journal": {"title": "Cancers (Basel)", "issn": "2072-6694", "volume": "14", "issue": "5", "issn-l": "2072-6694"}, "abstract": "(1) Background: The heritability of breast cancer is partly explained but much of the genetic contribution remains to be identified. Haplotypes are often used as markers of ethnicity as they are preserved through generations. We have previously demonstrated that haplotype analysis, in addition to standard SNP association studies, could give novel and more detailed information on genetic cancer susceptibility. (2) Methods: In order to examine the association of a SNP or a haplotype to breast cancer risk, we performed a genome wide haplotype association study, using sliding window analysis of window sizes 1\u221225 and 50 SNPs, in 3200 Swedish breast cancer cases and 5021 controls. (3) Results: We identified a novel breast cancer susceptibility locus in 8p21.1 (OR 2.08; p 3.92 \u00d7 10\u22128), confirmed three known loci in 10q26.13, 11q13.3, 16q12.1-2 and further identified novel subloci within these three loci. Altogether 76 risk SNPs, 3302 risk haplotypes of window size 2\u221225 and 113 risk haplotypes of window size 50 at p < 5 \u00d7 10\u22128 on chromosomes 8, 10, 11 and 16 were identified. In the known loci haplotype analysis reached an OR of 1.48 in overall breast cancer and in familial cases OR 1.68. (4) Conclusions: Analyzing haplotypes, rather than single variants, could detect novel susceptibility loci even in small study populations but the method requires a fairly homogenous study population.", "doi": "10.3390/cancers14051206", "pmid": "35267517", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC8909613"}, {"db": "pii", "key": "cancers14051206"}], "notes": [], "created": "2026-08-20T13:39:41.461Z", "modified": "2026-08-20T13:39:41.736Z"}]}