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Haplotype analysis ...
Haplotype analysis reveals that the recurrent BRCA1 deletion of exons 23 and 24 is a Greek founder mutation
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- Apostolou, P. (author)
- National and Kapodistrian University of Athens
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- Pertesi, M. (author)
- Lund University,Lunds universitet,Avdelningen för hematologi och transfusionsmedicin,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Hematology and Transfusion Medicine,Department of Laboratory Medicine,Faculty of Medicine,National Centre for Scientific Research Demokritos
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- Aleporou-Marinou, V. (author)
- National and Kapodistrian University of Athens
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- Dimitrakakis, C. (author)
- National and Kapodistrian University of Athens
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- Papadimitriou, C. (author)
- National and Kapodistrian University of Athens
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- Razis, E. (author)
- Hygeia Hospital
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- Christodoulou, C. (author)
- Metropolitan Hospital
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- Fountzilas, G. (author)
- Aristotle University of Thessaloniki
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- Yannoukakos, D. (author)
- National Centre for Scientific Research Demokritos
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- Konstantopoulou, I. (author)
- National Centre for Scientific Research Demokritos
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- Fostira, F. (author)
- National Centre for Scientific Research Demokritos
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(creator_code:org_t)
- 2016-08-22
- 2017
- English.
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In: Clinical Genetics. - : Wiley. - 0009-9163 .- 1399-0004. ; 91:3, s. 482-487
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http://dx.doi.org/10...
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https://lup.lub.lu.s...
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Abstract
Subject headings
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- A recurrent large genomic rearrangement (LGR) encompassing exons 23 and 24 of the BRCA1 gene has been identified in breast-ovarian cancer families of Greek origin. Its breakpoints have been determined as c.5406+664_*8273del11052 (RefSeq: NM_007294.3) and a diagnostic polymerase chain reaction (PCR) has been set up for rapid screening. In a series of 2,092 high-risk families completely screened for BRCA1 and BRCA2 germline mutations, we have found the deletion in 35 families (1.68%), representing 7.83% of the mutations identified in both genes and 10.3% of the total BRCA1 mutations. In order to characterize this deletion as a founder mutation, haplotype analysis was conducted in 60 carriers from 35 families, using three BRCA1 intragenic microsatellite markers and four markers surrounding the BRCA1 locus. Our results demonstrate a common shared core disease-associated haplotype of 2.89Mb. Our calculations estimate that the deletion has originated from a common ancestor 1450years ago, which most probably inhabited the Asia Minor area. The particular (LGR) is the third mutation of such type that is proven to have a Greek founder effect in the Greek population, illustrating the necessity for LGRs testing in individuals of Greek descent.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- BRCA
- Breast cancer
- Founder mutation
- Hereditary
- Large genomic rearrangements
- Ovarian cancer
Publication and Content Type
- art (subject category)
- ref (subject category)
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- By the author/editor
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Apostolou, P.
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Pertesi, M.
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Aleporou-Marinou ...
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Dimitrakakis, C.
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Papadimitriou, C ...
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Razis, E.
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Christodoulou, C ...
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Fountzilas, G.
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Yannoukakos, D.
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Konstantopoulou, ...
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Fostira, F.
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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 Basic Medicine
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and Medical Genetics
- Articles in the publication
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Clinical Genetic ...
- By the university
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Lund University