Table 1.

CLSPN Mutations among Cancer Families and Sporadic Cancer Cell Lines

SamplePhenotypeNucleotide changeAmino acid changeFrequency in population controls
Germline of cancer families (n = 71)
    Case 1Breast cancerA>G, nt 706I236V0/546
    Case 3LFLG>T, nt 3436A1146S0/184
Sporadic cancer cell lines (n = 52)
    MDA-MB-415Breast cancerG>A, nt 1091G364D0/551
    MDA-MB-175Breast cancerC>T, nt 2867P956L0/551
    ES-2Ovarian cancerC>T, nt 3550R1184W0/184
T>G, nt 2348I783S0/140
    MOLT4LeukemiaC>T, nt 3550R1184W0/184
    RPMI-8226Multiple myelomaA>G, nt 1361H454R0/165

NOTE: Nucleotide and amino acid positions are based on GenBank accession no. GI:21735568.

Abbreviations: LFL, Li-Fraumeni–like; nt, nucleotide.