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A BRCA2 mutation in...
A BRCA2 mutation incorrectly mapped in the original BRCA2 reference sequence, is a common West Danish founder mutation disrupting mRNA splicing
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Thomassen, Mads (author)
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Pedersen, Inge Sokilde (author)
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Vogel, Ida (author)
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Hansen, Thomas v. O. (author)
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Brasch-Andersen, Charlotte (author)
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Brasen, Claus L. (author)
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Cruger, Dorthe (author)
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Sunde, Lone (author)
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Nielsen, Finn C. (author)
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Jensen, Uffe B. (author)
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Bisgaard, Marie Luise (author)
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- Borg, Åke (author)
- Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine
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Gerdes, Anne-Marie (author)
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Kruse, Torben A. (author)
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(creator_code:org_t)
- 2010-12-24
- 2011
- English.
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In: Breast Cancer Research and Treatment. - : Springer Science and Business Media LLC. - 1573-7217 .- 0167-6806. ; 128:1, s. 179-185
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Abstract
Subject headings
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- Inherited mutations in the tumor suppressor genes BRCA1 and BRCA2 predispose carriers to breast and ovarian cancer. The authors have identified a mutation in BRCA2, 7845+1G > A (c.7617+1G > A), not previously regarded as deleterious because of incorrect mapping of the splice junction in the originally published genomic reference sequence. This reference sequence is generally used in many laboratories and it maps the mutation 16 base pairs inside intron 15. However, according to the recent reference sequences the mutation is located in the consensus donor splice sequence. By reverse transcriptase analysis, loss of exon 15 in the final transcript interrupting the open reading frame was demonstrated. Furthermore, the mutation segregates with a cancer phenotype in 18 Danish families. By genetic analysis of more than 3,500 Danish breast/ovarian cancer risk families, the mutation was identified as the most common BRCA2 mutation in West Denmark, while it is rare in Central and East Denmark and not identified in South Sweden. Haplotype analysis using dense SNP arrays indicated a common founder of the mutation approximately 1,500 years ago.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Keyword
- Hereditary breast cancer
- BRCA2
- 7845+1G > A
- Founder mutation
- Mutation age
- SNP array
- RT-PCR
Publication and Content Type
- art (subject category)
- ref (subject category)
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- By the author/editor
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Thomassen, Mads
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Pedersen, Inge S ...
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Vogel, Ida
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Hansen, Thomas v ...
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Brasch-Andersen, ...
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Brasen, Claus L.
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show more...
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Cruger, Dorthe
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Sunde, Lone
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Nielsen, Finn C.
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Jensen, Uffe B.
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Bisgaard, Marie ...
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Borg, Åke
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Gerdes, Anne-Mar ...
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Kruse, Torben A.
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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 ...
- Articles in the publication
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Breast Cancer Re ...
- By the university
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Lund University