Classification of the spliceogenic BRAC1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier
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- Classification of the spliceogenicBRCA1c.4096+3A>Gvariant as likely benign based on cosegregation data andidentification of a healthy homozygous carrier
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BRCA1, c.4096+3A>G was identified in a consanguineous Danish family with several cases of breast/ovarian cancer. In silico analysis and splicing assays indicated that the variant caused aberrant splicing. However, based on segregation data and the finding of a healthy homozygous carrier, we classify the BRCA1 c.4096+3A>G variant as likely benign.
| Originalsprog | Engelsk |
|---|---|
| Tidsskrift | Clinical Case Reports |
| Vol/bind | 5 |
| Udgave nummer | 6 |
| Sider (fra-til) | 876-879 |
| Antal sider | 4 |
| ISSN | 2050-0904 |
| DOI | |
| Status | Udgivet - jun. 2017 |
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