Table 2.
Sequence variants in the PALB2 gene (in brackets - groups on which they were studied)
| Exon | Nucleotide change | Effect | Frequency in cancers | Frequency in healthy controls | SNP Id# or references |
|---|---|---|---|---|---|
| 4* | c.509-510delGA | p.R170fs | ovarian cancer 0.6% (2/339) familial breast cancer 0.6% (4/648) sporadic breast cancer 0 (0/334) |
0.08% (1/1310) | novel |
| Analyzed in ovarian cancers only | |||||
| 4* | c.505C>A | p.L169I | 0 | 0.08% (1/1310) | novel |
| 4* | c.618T>G | p.L206L | 0 | 0.08% (1/1310) | novel |
| 4* | c.656A>G | p.D219G | 0 | 0.08% (1/1310) | rs45594034:A>G |
| 5** | c.2014G>C | p.E672Q | 7.5% (15/200) | 4.9% (16/326) | rs45532440:G>C |
| 5 | c.2135C>T | p.A712V | 0.5% (1/200) | 0.3% (1/326) | novel |
| 12 | c.3300T>G | p.T1100T | 4.3% (3/70) | Not studied | rs45516100:T>G |
| Intron | |||||
| 3** | c.212-58A>C | 7.5% (15/200) | 4.9% (16/326) | [10,12] | |
| 6 | c.2586+58C>T | 5.7% (4/70) | Not studied | rs249954:C>T | |
| 9 | c.2996+58T>C | 1.4% (1/70) | Not studied | novel | |
(GenBank accession number: genomic DNA- NG_007406.1, mRNA and protein- NM_024675.3)
# NCBI's [21] SNP database
* confirmed by the SSCP and sequencing in separate PCR reactions
** in our study these polymorphisms were always detected together