The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23—a likely pathogenic variant with reduced penetrance?

Hildegunn Høberg-Vetti; Elisabet Ognedal; Adrien Buisson; Tone Bøe Aaman Vamre; Sarah Louise Ariansen; Jacqueline M. Hoover; Geir Egil Eide; Gunnar Houge; Torunn Fiskerstrand; Bjørn Ivar Haukanes

doi:https://doi.org/10.1038/s41431-020-0612-1

doi.org/10.1038/s41431-020-0612-1

The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23—a likely pathogenic variant with reduced penetrance?

Hildegunn Høberg-Vetti

7

,

Elisabet Ognedal

1

,

..., Bjørn Ivar Haukanes

14

European Journal of Human Genetics5.20

Volume: 28, Issue: 8, Pages: 1078 - 1086

Published: Mar 20, 2020

Abstract

Rare sequence variants in the non-coding part of the BRCA genes are often reported as variants of uncertain significance (VUS), which leave patients and doctors in a challenging position. The aim of this study was to determine the pathogenicity of the BRCA1 c.5407-25T>A variant found in 20 families from Norway, France and United States with suspected hereditary breast and ovarian cancer. This was done by combining clinical and family...