Figure 1

RT-PCR results for the splice-site mutations identified in our patient population. Below the picture we indicate the position of the RT primers used. C = control. A detailed description of the relevant fragments obtained can be found in Table 3. However, we omitted in this Table details about several novel alternative transcripts containing intronic sequences with high acceptor/donor scores at the 5'/3' ends, complicating the interpretation of the results and of which the clinical relevance is currently unknown. For instance, cloning RT-PCR products spanning exons 21 to 26 revealed several novel alternative transcripts containing insertions from sequences of introns 24 and 25 (cfr. extra bands above the full length fragment in control persons and bands around 920–930 bp in the patient with BRCA2 c.9117+2T>A, representing transcripts lacking exon 23 but containing these intronic sequences. Similar observations were obtained for the RT-PCR analyses for BRCA2 c.8755-1G>A.