Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance

Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance

Abstract Background Deleterious variants in the tumour suppressor BRCA1 are known to cause hereditary breast and ovarian cancer syndrome (HBOC). Missense variants in BRCA1 pose a challenge in clinical care, as their effect on protein functionality often remains unknown. Many of the pathogenic missen...

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Bibliographic Details
Main Authors: Jonas Langerud, Elisabeth Jarhelle, Marijke Van Ghelue, Sarah Louise Ariansen, Nina Iversen
Format: Article
Language:English
Published: BMC 2018-11-01
Series:Human Genomics
Subjects:
BRCA1
HBOC
BRCT
Trans-activation
Functional assay
VUS
Online Access:http://link.springer.com/article/10.1186/s40246-018-0183-1

Internet

http://link.springer.com/article/10.1186/s40246-018-0183-1

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