Classification of the spliceogenic BRAC1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier

Anna Byrjalsen; Ane Y Steffensen; Thomas V O Hansen; Karin Wadt; Anne-Marie Gerdes

doi:10.1002/ccr3.944

Classification of the spliceogenic BRAC1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier

Anna Byrjalsen, Ane Y Steffensen, Thomas V O Hansen, Karin Wadt, Anne-Marie Gerdes

Institut for Klinisk Medicin

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Abstract

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	https://doi.org/10.1002/ccr3.944
Status	Udgivet - jun. 2017

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10.1002/ccr3.944Licens: CC BY-NC

Classification of the spliceogenicBRCA1c.4096+3A>Gvariant as likely benign based on cosegregation data andidentification of a healthy homozygous carrierForlagets udgivne version, 433 KBLicens: CC BY-NC

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AU - Wadt, Karin

AU - Gerdes, Anne-Marie

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AB - 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.

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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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