TABLE 1. Description of BRCA2 Mutations Investigated Original


Sequence Sequence detection Detection


Exon/ change change method in our Detected Detected by method Mutation


sub-fragment (nucleotide) (amino acid) laboratory by F-MD F-CSGE on BIC classification


Ex 10.03 1742T>C I505T F-MD Yes No DS UV


Ex 11.16 6893A>G Y2222C F-MD Yes No Not on BIC MS


Ex 11.11 5416A>T N1730Y F-MD Yes No Not on BIC MS


Ex 11.12 5868T>G N1880K MDE Yes No DS, DHPLC UV


Ex 11.05 4035T>C V1269V F-MD Yes Equivocala DS, DHPLC P


Ex 11.15 6631A>C N2135H MDE Yes Equivocala Not on BIC MS


Ex 22 9179C>G S2984X CSGE Yes Yes CSGE NS


Ex 11.12 5972C>T T1915M CSGE Yes Yes DS, DHPLC, P


CSGE


Ex 11.13 6174delT Stop2003 CSGE Yes Yes Deletion


Ex 11.13 5909insA Stop1894 CSGE Yes Yes PTT Insertion


Ex 11.15 6630delTAACT CSGE Yes Yes Deletion





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