| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Multidisciplinary team for elucidation of any new mutation and how this approach can be useful to individualize any genetic result: the case of BRCA2 c.631G>A/c.7008-2A>T genotype Response to: Nagy PL, Mansukhani M. The role of clinical genomic testing in diagnosis and discovery of pathogenic mutations. Expert Rev Mol Diagn 2015;15(9):1101-5. | 27125725 | 2016 |
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|
A | 0.700 | CausalMutation | CLINVAR | Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations. | 23451180 | 2013 |
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|
A | 0.700 | CausalMutation | CLINVAR | Multiple sequence variants of BRCA2 exon 7 alter splicing regulation. | 22962691 | 2012 |
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|
A | 0.700 | CausalMutation | CLINVAR | Predictive factors for BRCA1/BRCA2 mutations in women with ductal carcinoma in situ. | 22009639 | 2012 |
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|
A | 0.700 | CausalMutation | CLINVAR | Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants. | 21523855 | 2011 |
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|
A | 0.700 | CausalMutation | CLINVAR | An emerging entity: pancreatic adenocarcinoma associated with a known BRCA mutation: clinical descriptors, treatment implications, and future directions. | 21934105 | 2011 |
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|
A | 0.700 | CausalMutation | CLINVAR | Two mutations of BRCA2 gene at exon and splicing site in a woman who underwent oncogenetic counseling. | 19179552 | 2009 |
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|
A | 0.700 | CausalMutation | CLINVAR | An unusual BRCA2 allele carrying two splice site mutations. | 19423647 | 2009 |
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|
A | 0.700 | CausalMutation | CLINVAR | BRCA2 splice site mutations in an Italian breast/ovarian cancer family. | 19542536 | 2009 |
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|
A | 0.700 | CausalMutation | CLINVAR | Sensitivity of BRCA1/2 mutation testing in 466 breast/ovarian cancer families. | 12960223 | 2003 |
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|
C | 0.700 | CausalMutation | CLINVAR |