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BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

Spurdle, A B, Whiley, P J, Thompson, B, Feng, B, Healey, S, Brown, M A, Pettigrew, C, kConFab, ., Van Asperen, C J, Weber, Bernhard H. F. , Dutch Belgium UV Consortium, ., German Consortium of Hereditary Breast and Ovarian Cancer, ., French COVAR group collaborators, . and on behalf of the ENIGMA Consortium, . (2012) BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk. Journal of Medical Genetics 49 (8), pp. 525-532.

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Abstract

Background Clinical classification of rare sequence changes identified in the breast cancer susceptibility genes BRCA1 and BRCA2 is essential for appropriate genetic counselling of individuals carrying these variants. We previously showed that variant BRCA1 c.5096G>A p.Arg1699Gln in the BRCA1 transcriptional transactivation domain demonstrated equivocal results from a series of functional assays, ...

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Item type:Article
Date:2012
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1136/jmedgenet-2012-101037DOI
PMC3810416PubMedCentral-ID
22889855PubMed ID
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Partially
Item ID:35343
Owner only: item control page

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