Classification of the spliceogenic BRCA1 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 BRCA1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier

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	AACE clinical case reports
Vol/bind	5
Udgave nummer	6
Sider (fra-til)	876-879
ISSN	2376-0605
DOI	https://doi.org/10.1002/ccr3.944
Status	Udgivet - jun. 2017

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10.1002/ccr3.944

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Classification of the spliceogenic BRCA1 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.
I: AACE clinical case reports, Bind 5, Nr. 6, 06.2017, s. 876-879.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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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 BRCA1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier

Abstract

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