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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