Figure 2

Pedigree and LOH Testing in Tumors of c.3507_3508delTC Mutation Family. (A) Pedigree of the family carrying the c.3507_3508delTC mutation. Circles = females; Squares = males. Filled symbols = affected with cancer. Slashed symbols = deceased. +/+ = wild-type; +/- = heterozygous carrier; numbers denote age, the arrow denotes the proband. (B) Loss of heterozygosity (LOH) analysis in tumor tissue from mutation carriers. The reverse sequence is shown. A hematoxylin-eosin stain of the tumor tissue analyzed is shown to the right of each chromatogram. I) Normal tissue showing the heterozygous mutation; II) Tumor tissue from the proband, (no LOH); III) Tumor tissue from the proband’s sister (no LOH); IV) Tumor tissue from the left breast of the proband’s mother (loss of the wild-type allele); V) Tumor tissue from the right breast of the proband’s mother (loss of the wild-type allele).