Table 2 Polymorphisms detected in BHD, TP53, and HNF1β genes in 92 sporadic renal tumours

From: Mutations in BHD and TP53 genes, but not in HNF1β gene, in a large series of sporadic chromophobe renal cell carcinoma

    

Proportion of rare homozygous genotypes (%) c

Gene

SNP ID a

Location

Description

All tumours N =92

Chromophobe RCC N =46

Clear-cell RCC N =19

Oncocytoma N =18

Papillary RCC N =9

BHD

rs1736219

Intron 5

c.397-14C>T

28.3

17.4

4.3

4.3

2.2

 

rs3744124

Intron 8

c.871+36G>A

0

0

0

0

0

 

rs8065832

Intron 9

c.1062+6C>T

29.3

19.6

4.3

3.3

2.2

  

Intron 12

c.1433-38A>G

15.2

12

2.2

1.1

0

TP53

rs1642785

Intron 2

c.74+38G>C

16.3

10.9

2.2

2.2

1.1

 

rs1800370

exon 4

c.108G>A, p.P36P

1.1

1.1

0

0

0

 

rs1042522

exon 4

c.215G>C, p.R72P

14.1

10.9

2.2

1.1

0

 

rs1800372

exon 6

c.639A>G, p.R213R

1.1

1.1

0

0

0

HNF1β

rs2107133

Intron 6

c.1339+27T>C

4.3

4.3

0

0

0

  

Intron 8

c.1653+47_48insC

7.6

7.6

0

0

0

 

rs3110641

Intron 8

c.1654-22C>T

15.2

12

0

2.2

1.1

 

rs8068014

exon 9

c.*47T>Gb

1.1

0

0

0

1.1

 

rs2229295

exon 9

c.*99C>Ab

10.9

7.6

0

2.2

1.1

 

rs1800929

exon 9

c.*100A>Gb

2.2

0

0

1.1

1.1

 

rs2689

exon 9

c.*274A>Tb

27.2

17.4

3.3

5.4

1.1

  1. Abbreviations: BHD=Birt–Hogg–Dubé; HNF=hepatocyte nuclear factor; RCC=renal cell carcinoma.
  2. aSNP information was obtained from www.ncbi.nlm.nih.gov/SNP/.
  3. bThese 4 SNPs are located in exon 9 of HNF1β after the translation stop codon (Genbank accession number NM_000458).
  4. cRare homozygous genotypes are defined as genotypes having the lowest allelic frequency q2 according to the Hardy–Weinberg law and genotypes given in Table 3 (Supplementary Information on line).
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