Article ; Online: Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
2016 Volume 25, Issue 11, Page(s) 2256–2268
Abstract: ... indicated that BRCA1 c.594-2A > C (IVS9-2A > C), previously described to cause exon 10 skipping ... to assess pathogenicity of c.594-2A > C. The combined odds for causality considering case-control ...
Abstract | A recent analysis using family history weighting and co-observation classification modeling indicated that BRCA1 c.594-2A > C (IVS9-2A > C), previously described to cause exon 10 skipping (a truncating alteration), displays characteristics inconsistent with those of a high risk pathogenic BRCA1 variant. We used large-scale genetic and clinical resources from the ENIGMA, CIMBA and BCAC consortia to assess pathogenicity of c.594-2A > C. The combined odds for causality considering case-control, segregation and breast tumor pathology information was 3.23 × 10 |
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MeSH term(s) | Adult ; Aged ; Alternative Splicing/genetics ; BRCA1 Protein/genetics ; Breast Neoplasms/genetics ; Breast Neoplasms/pathology ; DNA Mutational Analysis ; Exons/genetics ; Female ; Gene Expression Regulation, Neoplastic ; Humans ; Middle Aged ; Mutation/genetics ; Ovarian Neoplasms/genetics ; Ovarian Neoplasms/pathology ; RNA Splice Sites/genetics ; RNA Splicing/genetics ; Tumor Suppressor Proteins/genetics |
Chemical Substances | BRCA1 Protein ; RNA Splice Sites ; Tumor Suppressor Proteins |
Language | English |
Publishing date | 2016-03-23 |
Publishing country | England |
Document type | Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural |
ZDB-ID | 1108742-0 |
ISSN | 1460-2083 ; 0964-6906 |
ISSN (online) | 1460-2083 |
ISSN | 0964-6906 |
DOI | 10.1093/hmg/ddw094 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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