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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
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
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