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

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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, . ; on behalf of the ENIGMA Consortium, .
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Date of publication of this fulltext: 24 Mar 2017 09:48


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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