Table 8.
Tumour-suppressor genes and proteins in cancer of unknown primary site
| n | Method | Findings | Reference |
|---|---|---|---|
| 40 | IHC | P53; expression 70%, overexpression 53% | 50 |
| 200 | Genomic profiling Illumina HiSeq2500 instrument | Genomic alteration of TP53; 55%, BRCA2; 6%, PTEN; 7% | 44 |
| 23 | PCR-SSCP | Exon 5-9 P53 gene mutations; 26% | 52 |
| 100 | IHC | Expression of PTEN; 60%, and Akt; 85% | 57 |
| 8 | Genomic testing | BRCA1 mutation carrier (RR* = 3.45, 95% CI = 2.35-5.07, P < 0.001) | 59 |
| 4 | An institutional review board-approved study (genomic testing) | Mutation of BRCA1, 50% and BRCA2, 50% | 60 |
| 50 | PCR-SSCP | One case with Kiss-1 Exon 4a, 242C>G mutation (P81R) | 64 |
*RR = relative risk, PCR-SSCP= PCR- single-strand conformation polymorphism, IHC=Immunohistochemistry.
n=number of patients