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

Department of Clinical Medicine

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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.

Original language	English
Journal	Clinical Case Reports
Volume	5
Issue number	6
Pages (from-to)	876-879
Number of pages	4
ISSN	2050-0904
DOIs	https://doi.org/10.1002/ccr3.944
Publication status	Published - Jun 2017

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

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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. / Byrjalsen, Anna; Steffensen, Ane Y; Hansen, Thomas V O et al.

In: Clinical Case Reports, Vol. 5, No. 6, 06.2017, p. 876-879.

Research output: Contribution to journal › Journal article › Research › peer-review

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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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