Associated Papers
Hiding in plain sight: a partial deletion of BRCA1 exon 7 undetectable by MLPA is a Nepali founder variant.
Clowes V et al.
Journal of Medical Genetics, 2025
BRCA1 Intragenic Duplication Combined with a Likely Pathogenic TP53 Variant in a Patient with Triple-Negative Breast Cancer: Clinical Risk and Management.
Ea V et al.
International Journal of Molecular Sciences, 2024
Analyzing the effects of BRCA1/2 variants on mRNA splicing by minigene assay.
Dong Z et al.
Journal of Human Genetics, 2023
Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance.
Gelli E et al.
Cancers, 2019
The importance of analysis of long-range rearrangement of BRCA1 and BRCA2 in genetic diagnosis of familial breast cancer.
Kwong A et al.
Cancer Genetics, 2015
Select a paper to view details