Fig. 2

a: I. patient. Illustrates the sequencing result of the chromatogram of one of the tested patients with the substitution mutation marked by a small square. The monoallelic change is more apparent. II. Control. Illustrates the sequencing result of the chromatogram of the control with the normal sequence. A - Adenine, G - guanine, T - thymine, C - cytosine. III. Illustrates Bioedit multiple sequences alignment with substitution of thymine by guanine. b: I. This frame illustrates the nucleotide sequence (in small letters) and their corresponding amino-acids sequence (in capital letters) of a selected frame (5' to 3' frame 1) of the tested region (region B) of BRCA2. The dash (−) represents absence of amino-acid (stop codon). This figure was taken from Expasy online translate tool. II. this frame illustrates the amino-acids sequence in a compacted form. The dash (−) represents absence of amino acid. This figure was taken from Expasy online translate tool