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

Clin Case Rep. 2017 Apr 22;5(6):876-879. doi: 10.1002/ccr3.944. eCollection 2017 Jun.

Authors

Anna Byrjalsen¹, Ane Y Steffensen², Thomas V O Hansen², Karin Wadt¹, Anne-Marie Gerdes¹

Affiliations

¹ Department of Clinical Genetics Copenhagen University Hospital Copenhagen Denmark.
² Center for Genomic Medicine Copenhagen University Hospital Copenhagen Denmark.

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.

Keywords: BRCA1; classification; genetics; oncology.

Publication types

Case Reports