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Whole-genome Linkage Analysis and Sequence Analysis of Candidate Loci in Familial Breast Cancer
Karolinska Univ Hosp, Ctr Mol Med & Surg CMM, S-17176 Stockholm, Sweden..
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik. Karolinska Univ Hosp, Ctr Mol Med & Surg CMM, S-17176 Stockholm, Sweden.;Akademiska Univ Hosp, Rudbecklab, Dept Clin Genet, Uppsala, Sweden..
Karolinska Univ Hosp, Ctr Mol Med & Surg CMM, S-17176 Stockholm, Sweden..
Karolinska Univ Hosp, Ctr Mol Med & Surg CMM, S-17176 Stockholm, Sweden..
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2015 (English)In: Anticancer Research, ISSN 0250-7005, E-ISSN 1791-7530, Vol. 35, no 6, 3155-3165 p.Article in journal (Refereed) Published
Abstract [en]

Background: Known breast cancer-predisposing genes account for fewer than 25% of all familial breast cancer cases and further studies are required to find the remaining high-and moderate-risk genes. We set-out to couple linkage analysis using microsatellite marker data and sequence analysis of linked regions in 13 non-BRCA1/2 families in order to find novel susceptibility loci and high-penetrant genes. Materials and Methods: Genotyping with 540 fluorescently-labeled microsatellite markers located on the 23 chromosomes at 7.25 cM resolution was used for primary linkage analysis and an additional 40 markers were used for fine-mapping of loci with a logarithm of odds (LOD) or heterogeneity LOD (HLOD) score greater than one. Whole-exome sequencing data of 28 members from all 13 families were used for the bioinformatics sequence analysis on the linked regions of these families. Results: Linkage analysis identified three loci on chromosome 18q as a putative region of interest (overall LOD=1, HLOD=1.2). Sequencing analysis of the three linked regions on 18q and mutation prediction algorithms did reveal three probable damaging variants. Conclusion: Overall, our study identified three weakly linked loci on 18q and three probable damaging variants of interest in the 13 families with breast cancer.

Place, publisher, year, edition, pages
2015. Vol. 35, no 6, 3155-3165 p.
Keyword [en]
Familial breast cancer, microsatellite markers, linkage analysis, next generation sequencing, sequencing analysis
National Category
Cancer and Oncology
URN: urn:nbn:se:uu:diva-304599ISI: 000355273800005PubMedID: 26026075OAI: oai:DiVA.org:uu-304599DiVA: diva2:1033304
Available from: 2016-10-06 Created: 2016-10-06 Last updated: 2016-10-06

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