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- W2890694704 abstract "BRIP1 is a component of the Fanconi Anemia/BRCA pathway responsible for DNA reparation via helicase activity. Some heterozygous variants in BRIP1 could contribute to Hereditary Breast Cancer through a defective DNA repair. The clinical utility of BRIP1 mutations in a familial cancer context is compromised by the conflicting interpretation of “variants of uncertain significance” (VUS). Defining the clinical significance of variants identified in genetic tests is a major challenge; therefore, studies that evaluate the biological effect of these variants are definitely necessary. To contribute to this purpose, we have characterized the variant c.550G>T of BRIP1 , a missense mutation with little evidence about its pathogenicity. Since Human Splicing Finder TM predicts the creation of a new exonic splicing enhancer site we decided to perform cDNA analysis revealing that the c.550G>T mutation located in exon 6 led to an aberrant transcript causing exon 5 skipping. Our results demonstrate that the c.550G>T BRIP1 variant disrupts normal splicing, causing exon 5 skipping. Considering that the exon 5 encodes the helicase domain of BRIP1, it is expected an alteration of the function. This finding enhances the interpretation of this VUS, suggesting a potential pathogenic effect." @default.
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- W2890694704 date "2018-09-22" @default.
- W2890694704 modified "2023-10-01" @default.
- W2890694704 title "Unraveling the molecular effect of a rare missense mutation in BRIP1 associated with inherited breast cancer" @default.
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- W2890694704 doi "https://doi.org/10.1002/mc.22910" @default.
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