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Whole-genome Linkag...
Whole-genome Linkage Analysis and Sequence Analysis of Candidate Loci in Familial Breast Cancer
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- Marikkannu, Rajeshwari (author)
- Karolinska Univ Hosp, Ctr Mol Med & Surg CMM, S-17176 Stockholm, Sweden.
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- Aravidis, Christos (author)
- Uppsala universitet,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.
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- Rantala, Johanna (author)
- Karolinska Institutet
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- Picelli, Simone (author)
- Karolinska Univ Hosp, Ctr Mol Med & Surg CMM, S-17176 Stockholm, Sweden.
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- Adamovic, Tatjana (author)
- Karolinska Univ Hosp, Ctr Mol Med & Surg CMM, S-17176 Stockholm, Sweden.
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- Keihas, Markku (author)
- Karolinska Univ Hosp, Ctr Mol Med & Surg CMM, S-17176 Stockholm, Sweden.
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- Liu, Tao (author)
- Karolinska Univ Hosp, Ctr Mol Med & Surg CMM, S-17176 Stockholm, Sweden.
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- Kontham, Vinaykumar (author)
- Karolinska Univ Hosp, Ctr Mol Med & Surg CMM, S-17176 Stockholm, Sweden.
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- Nilsson, Daniel (author)
- Karolinska Institutet
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- Lindblom, Annika (author)
- Karolinska Institutet
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Karolinska Univ Hosp, Ctr Mol Med & Surg CMM, S-17176 Stockholm, Sweden Medicinsk genetik och genomik (creator_code:org_t)
- 2015
- 2015
- English.
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In: Anticancer Research. - 0250-7005 .- 1791-7530. ; 35:6, s. 3155-3165
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Abstract
Subject headings
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Keyword
- Familial breast cancer
- microsatellite markers
- linkage analysis
- next generation sequencing
- sequencing analysis
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Marikkannu, Raje ...
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Aravidis, Christ ...
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Rantala, Johanna
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Picelli, Simone
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Adamovic, Tatjan ...
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Keihas, Markku
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Liu, Tao
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Kontham, Vinayku ...
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Nilsson, Daniel
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Lindblom, Annika
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- 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 ...
- Articles in the publication
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Anticancer Resea ...
- By the university
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Uppsala University
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Karolinska Institutet