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Table 2 Sequence variants in the PALB2 gene (in brackets - groups on which they were studied)

From: A novel germline PALB2 deletion in Polish breast and ovarian cancer patients

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
  1. (GenBank accession number: genomic DNA- NG_007406.1, mRNA and protein- NM_024675.3)
  2. # NCBI's [21] SNP database
  3. * confirmed by the SSCP and sequencing in separate PCR reactions
  4. ** in our study these polymorphisms were always detected together