Table 2 Single nucleotide alterations in APC identified in breast cancers (n = 89) and controls (n = 50) using high resolution melting analysis
From: Analysing the mutational status of adenomatous polyposis coli (APC) gene in breast cancer
Position in gene | Nucleotide location, cDNA (from start codon) | Amino acid location | dbSNP identifier | Han Chinese in Bejing, China (1000 genomes project data) (%) | Cases n = 178 alleles (%) | Controls n = 100 alleles (%) | P value |
|---|---|---|---|---|---|---|---|
Exon 4 | c.465A>G | K155K | |||||
Allele A | 176 (98.88) | 100 (100) | 0.5377* | ||||
Allele G | 2 (1.12) | 0 (0) | |||||
Exon 5 | c.573T>C | Y191Y | rs185154886 | ||||
Allele T | 100 | 177 (99.44) | 100 (100) | 1.000* | |||
Allele C | 0 | 1 (0.56) | 0 (0) | ||||
Exon 9 | c.1005A>G | L335L | rs3797704 | ||||
Allele A | 100 | 176 (98.88) | 99 (99) | 1.000* | |||
Allele G | 0 | 2 (1.12) | 1 (1) | ||||
Exon 11 | c.1458T>C | Y486Y | rs2229992 | ||||
Allele T | 32.52 | 52 (29.2) | 33 (33) | 0.511 | |||
Allele C | 67.48 | 126 (70.8) | 67 (67) | ||||
Exon 11 | c.1488A>T | T496T | rs9282599 | ||||
Allele A | 99.51 | 177 (99.44) | 100 (100) | 1.000* | |||
Allele T | 0.49 | 1 (0.56) | 0 (0) | ||||
Exon 13 | c.1635G>A | A545A | rs351771 | ||||
Allele G | 18.93 | 29 (16.3) | 15 (15) | 0.777 | |||
Allele A | 81.07 | 149 (83.7) | 85 (85) | ||||
Exon 15 | c.4479G>A | T1493T | rs41115 | ||||
Allele G | 18.93 | 24 (13.5) | 15 (15) | 0.727 | |||
Allele A | 81.07 | 154 (86.5) | 85 (85) | ||||
Exon 15 | c.5465T>A | V1822D | rs459552 | ||||
Allele T | 9.22 | 14 (7.9) | 6 (6.0) | 0.564 | |||
Allele A | 90.78 | 164 (92.1) | 94 (94.0) |