FIG. 1.

Family pedigree and nature of CDKN2A mutations. (A) The proband is indicated with an arrow, and the shaded symbols refer to individuals diagnosed with cancer (Ca) as follows: melanoma, filled symbol; lung cancer, left half shaded; rectal cancer, right half shaded; breast cancer, top half shaded. To preserve the confidentiality of the patient and family, genders and unaffected siblings are not specified in the pedigree. (B) Schematic representation of the CDKN2A locus with the exons shown as boxes. The sequences encoding p16^INK4a are identified by stippling, and those encoding p14^ARF are identified by cross-hatches. The nucleotide sequence of the relevant sections of exon 2 and the consequences for translation in the INK4a and ARF reading frames are shown at the bottom.