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Table 1 PALB2 variants identified in previous screens (Sanger sequencing and HRM) or genotyping assays (Taqman probe-based), and detected via Hi-Plex

From: Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2

Variant type

Nucleotide changea

Protein change

rs number

Number of carriers (detected by all used methods)

Number of carriers (detected by Hi-Plex only)

Non-sense

c.196C>T

p.Gln66*

rs180177083

2 heterozygotesb

 
 

c.3113G>A

p.Trp1038*

rs180177132

4 heterozygotesc

 

Frameshift

c.1947_1948insA

p.Glu650fs*13

-

1 heterozygote

 
 

c.2982_2983insT

p.Ala995fs*16

rs180177127

1 heterozygote

 

Missense

c.1010T>C

p.Leu337Ser

rs45494092

5 heterozygotesd

 
 

c.1676A>G

p.Gln559Arg

rs152451

13 heterozygotesd

1 heterozygotee,f

1 homozygote

 

c.2014G>C

p.Glu672Gln

rs45532440

8 heterozygotes

 

1 homozygote

 

c.2590C>T

p.Pro864Ser

rs45568339

-

1 heterozygotee,g,h

 

c.2993G>A

p.Gly998Glu

rs45551636

7 heterozygotes

1 heterozygote,e,f,g

Synonymous

c.1470C>T

p.Pro490Pro

rs45612837

-

1 heterozygotee,h,i

 

c.1572A>G

p.Ser524Ser

rs45472400

3 heterozygotes

 
 

c.3300T>G

p.Thr1100Thr

rs45516100

8 heterozygotes

 

1 homozygote

 

c.3495G>A

p.Ser1165Ser

-

1 heterozygote

 
  1. *indicates a protein truncation event.
  2. aNumber based on transcript sequence (NM_024675), +1 as A of ATG start codon.
  3. bIncluding one sample that was genotyped by Taqman probe-based assay.
  4. cAll four samples were genotyped by Taqman probe-based assay.
  5. dIncluding duplicated sample.
  6. eConfirmed by Sanger sequencing.
  7. fPreviously screened by HRM only.
  8. gUpon HRM curve re-analysis, the variant was apparent.
  9. hUpon chromatogram re-analysis, the variant was apparent.
  10. iInitially detected by HRM, not by Sanger sequencing.
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BMC Medical Genomics

ISSN: 1755-8794

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