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Although in vitro splicing assays can provide useful information about the clinical interpretation of sequence variants in high‐risk cancer genes such as BRCA1 and BRCA2, results can sometimes be difficult to interpret. The BRCA1 c.135‐1G>T (IVS3‐1G>T) variant has been shown to give rise to an in‐frame deletion of exon 5 (BRCA1 c.135_212del) that is predicted to encode 26 amino acids. BRCA2...
Missense substitutions in high‐risk cancer susceptibility genes create clinical uncertainty in the genetic counseling process. Multifactorial likelihood classification approaches and in vitro assays are useful for the classification of exonic sequence variants in BRCA1 and BRCA2, but these currently rely on the assumption that changes in protein function are the major biological mechanism of pathogenicity...
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