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Table 2 Variation in the RAD51 gene

From: Variation in the RAD51 gene and familial breast cancer

Gene region PCR fragment Nucleotide change Amino acid change Number (%) of heterozygous familiesa Number (%) of heterozygous controls
Exon 1 (5' UTR) 1 c.-135G>C - 3/28 (10.7%) N/D
Exon 1 (5' UTR) 1 c.-172G>T - 16/33 (48.5%) N/D
Intron 2 2 c.97+110A>G - 3/46 (6.5%) 16/93 (17.2%)
Intron 3 4 c.226-33T>G - 11/46 (23.9%) 23/93 (24.7%)
Intron 3 4 c.226-70T>A - 20/46 (43.5%) 43/93 (46.2%)
Intron 3 4 c.226-72delA - 2/46 (4.3%) 8/93 (8.6%)
Intron 3 4 c.226-33T>G and c.226-70T>A - 4/46 (8.7%) 8/93 (8.6%)
Intron 3 4 c.226-33T>G and c.226-72delA - 1/46 (2.1%) 0/93 (0%)
Intron 3 4 c.226-70T>A and c.226-72delA - 1/46 (2.1%) 6/93 (6.5%)
Intron 4 5 c.344-36T>G - 3/46 (6.5%) 16/93 (17.2%)
Exon 6 6 c.449G>A p.R150Qb 0/46 (0%), 0/66 (0%) N/D
Intron 7 7 c.644+57G>T - 1/46 (2.2%) 0/93 (0%)
Intron 8 9 c.775-41G>C - 1/46 (2.2%) N/D
Exon 10 (3' UTR) 10b c.1020*+502T>G - 19/46 (41.3%) N/D
Exon 10 (3' UTR) 10c c.1020*+718G>A - 18/44 (40.9%) N/D
Exon 10 (3' UTR) 10d c.1020*+927T>C - 17/42 (40.4%) N/D
  1. UTR, untranslated region; N/D, not determined aValues expressed as the number of heterozygous families because all related individuals shared the same genotype. bReported in Kato and colleagues [22].