Table 1.
CDKN1B mutation summary
| Tumor/patient number | Patient age/sex | Nucleotide(s) affecteda | Heterozygous change? | Expected protein change | Present in germline? | LOH present in tumor? |
|---|---|---|---|---|---|---|
| 1 | 68 M | c.25G>A | Yes | Gly9Arg | Yes | Nod |
| 2 | 67 F | c.397C>A | Yes | Pro133Thr | NDb | Noe |
| 3 | 53 F | c.397C>A | Yes | Pro133Thr | Yes | Nof |
| 4 | 48 F | c.582del25 | No | Multiple abnormalitiesc | No | Yesg |
a
Nucleotide numbering begins with the A of the start codon as +1.
b
Normal control DNA from this patient was degraded, so presence of this mutation in the germline could not be assessed.
c
Frameshift after residue 193, with addition of 57 abnormal extra C-terminal amino acids, also affected by splicing abnormalities as per Fig. 1, B and C.
d
Supplemental Table 2 and Supplemental Fig. 2A.
e
LOH determination based on Comparative Genomic Hybridization and single-nucleotide polymorphism array data (Supplemental Refs. 1 and 2).
f
Supplemental Fig. 2B and Supplemental Ref. 2.