Table 4. Prevalence of germline and somatic BRCA1/2 mutations in ovarian cancer.
| Authors | Samples | Somatic plus germline % (n/N) | Somatic only % (n/N) | Analytical method |
|---|---|---|---|---|
| High-grade serous ovarian carcinomas | ||||
| Mafficini, 2016 [ ] | FFPE | 28 (13/47) | 23 (3/13) | NGS (Ion Torrent) |
| McAlpine, 2012 [ ] | Fresh | 30 (31/103) | 16 (5/31) | Illumina exome sequencing, DHPLC (part), MLPA |
| TCGA, 2011 [ ] | Fresh | 22 (70/316) | 27 (19/70) | NGS |
| Hennessy, 2010 [ ] | Fresh | 19 (44/235) | 39 (11/28) | Agilent high-density tiling array |
| Current study | FFPE | 26 (12/46) | 33 (4/12) | NGS (Ion Torrent) |
| High-grade serous and non-serous ovarian carcinomas | ||||
| Hilton, 2002 [ ] | Fresh | 33 (30/92) | 40 (12/30) | PTT |
| Current study | FFPE | 12 (12/99) | 33 (4/12) | NGS (Ion Torrent) |
Abbreviations: FFPE, formalin-fixed paraffin-embedded; DHPLC, denaturing high-performance liquid chromatography; MLPA, multiplex ligation-dependent probe amplification; NGS, next-generation sequencing; PTT, protein truncation test; TCGA, The Cancer Genome Atlas Research Network.