Basal cell carcinoma tumor supressor gene

An isolated nucleic acid encoding at least 10 contiguous amino acid residues of a portion of a human nevoid basal cell carcinoma syndrome (NBCCS)(PTC) protein, which nucleic acid encoding said portion of said protein is selected from the group consisting of

• (a) a portion of SEQ ID NO:1 amplified from a human genomic library by primers SEQ ID NO:10 and 11,
• (b) a portion of SEQ ID NO:1 amplified from a human genomic library by primers SEQ ID NO:12 and 13, and
• (c) the sequence GGAGGACGAGGAAAGGGGGGCCAGGGAAAAAAATTGATGTGAAATCCAAGCCCGCGCTCCGAGCAGGGGTTGACGGCCGGCTATG (exon 2a, SEQ ID NO:
• 84), and
• (d) a nucleic acid that differs from a portion of SEQ ID NO:
• 1 amplified by the primers of (a) or (b) or encoded by the sequence of (c) by encoding a protein with a conservative substitution of an amino acid relative to the sequence encoded by SEQ ID NO:
• 1.

An isolated nucleic acid encoding a human nevoid basal cell carcinoma (NBCCS) (PTC) polypeptide comprising at least 10 contiguous amino acids from a polypeptide sequence encoded by a nucleic acid selected from the group consisting of

• (a) a nucleic acid sequence amplified from a human genomic library by primers SEQ ID NO:10 and 11,
• (b) a nucleic acid sequence amplified from a human genomic library by primers SEQ ID NO:12 and 13, and
• (c) a nucleic acid sequence GGAGGACGAGGAAAGGGGGGCCAGGGAAAAAAATTGATGTGAAATCCAAGCCCGCGCTCCGAGCACGGGTTGACGGCCGGCTATG (exon 2a, SEQ ID NO:
• 84), wherein:
• said polypeptide, when presented as an antigen, elicits the production of an antibody which specifically binds to a human nevoid basal cell carcinoma (NBCCS) (PTC) polypeptide encoded by SEQ ID NO:1.

An isolated nucleic acid, which nucleic acid encodes a human nevoid basal cell carcinoma (NBCCS) (PTC) polypeptide comprising at least 10 contiguous amino acids from a polypeptide sequence encoded by a nucleic acid selected from the group consisting of

• (a) a nucleic acid sequence amplified from a human genomic library by primers SEQ ID NO:10 and 11,
• (b) a nucleic acid sequence amplified from a human genomic library by primers SEQ ID NO:12 and 13, and
• (c) a nucleic acid sequence GGAGGACGAGGAAAGGGGGGCCAGGGAAAAAAATTGATGTGAAATCCAAGCCCGCGCTCCGAGCAGGGGTTGACGGCCGGCTATG (exon 2a, SEQ ID NO:
• 84).