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Table 1 Genes associated with predisposition to cancer family syndromes. The table contains genes studied the mostly frequently in our centre

From: DNA and RNA analyses in detection of genetic predisposition to cancer

Gene localization

Predisposition to malignancies

Penetrance*

Number of exons

Rb[2] 13q14

retinoblastoma

about 90%

27 exons

BRCA1[3] 17q21

cancers of the breast ovaries

prostate

colon

about 80%

24 exons, 2 transcripts differing by first exon, 1863 amino acids

BRCA2

  

27 exons

13q

  

3418 amino acids

VHL[4]

haemangioblastoma of the cerebellum and retina

about 80%

3 exons

3p25-26

kidney cancer

 

213 amino acids

 

pheochromocytoma

  

MSH2[5]

colon cancer

about 90%

16 exons

2p22

endometrial cancer

for male

934 amino acids

MLH1 3p22-23

cancer of the stomach, small bowel, biliary tract, ovary

about 70% for female[6]

19 exons

756 amino acids

MSH6

  

10 exons

2p16

  

1361 amino acids

  1. *Probability of malignancy during lifetime among mutation carriers