Introduction 3. Identification of pathogenic splicing mutations and the dilemma of diagnosis
3.1. Mutation detection techniques 3.2. Interpretation of sequence variants 4. Splice sites …

Background: Many unclassified variants (UV) of BRCA1 or BRCA2 may have an effect on
pre-mRNA splicing. Patient blood samples suitable for RNA extraction are not always …

A large number of sequence variants identified in BRCA1 and BRCA2 cannot be
distinguished as either disease‐causing mutations or neutral variants. These so‐called …

Clinical genetic testing is increasingly employed in the medical management of cancer
patients. These tests support a variety of clinical decisions by providing results that indicate …

SSCP and heteroduplex analysis (HA) continue to be the most popular methods of mutation
detection due to their simplicity, high sensitivity and low cost. The advantages of these …

We report on the screening of the entire BRCA1/BRCA2 coding sequence by SSCP, PTT,
and direct sequencing in 68 Italian families with recurrent breast or ovarian cancer. For each …

Although most capillary electrophoresis (CE) applications in the nucleic acid field performed
so far address DNA analysis, various RNA assays by CE have also been done. Both natural …

The frequency of three BRCA1 founder mutations was examined in a group of Polish
breast/ovarian cancer patients and women at increased risk of these cancers based on …

For mutation detection, various screening techniques are widely used because DNA
sequencing, the gold-standard method, is still considered to be expensive and laborious for …

One of the unclassified variants of the BRCA1 gene which has drawn considerable attention
in recent years is the 12‐bp insertion/duplication in intron 20. In this report, we show that a …