Table 1. Genetic alterations of the ERCC4 gene in German and Byelorussian breast cancer patients.
| Location | Nucleotide change | Codon | No. of carriers (frequency) | NCBI database annotation | ||
| het | hom | total | ||||
| Variants in patients with familial breast cancer (Set 1) | ||||||
| Upstream | c.−30T>A | none | 22 (.35) | 3 (.05) | 25 (.40) | rs1799797 |
| Exon 1 | c.33C>T | p.A11A | 2 (.03) | - | 2 (.03) | rs3136042 |
| Intron 1 | c.207+11G>A | none | 22 (.35) | 3 (.05) | 25 (.40) | rs762521 |
| Intron 1 | c.207+49G>A | none | 9 (.14) | - | 9 (.14) | rs1799798 |
| Exon 2 | c.217A>G | p.I73V | 1 (.02) | . | 1 (.02) | rs141591400 |
| Exon 8 | c.1244G>A | p.R415Q | 8 (.13) | 2 (.03) | 10 (.16) | rs1800067 |
| Intron 9 | c.1905−35T>C | none | 24 (.38) | 5 (.08) | 29 (.46) | rs1799799 |
| Exon 11 | c.2505T>C | p.S835S | 20 (.32) | 3 (.05) | 23 (.37) | rs1799801 |
| Exon 11 | c.2655G>A | p.T885T | 1 (.02) | - | 1 (.02) | rs16963255 |
| Additional variants identified in p.R415Q carriers (Set 2) | ||||||
| Exon 1 | c.50A>T | p.E17V | 1 (.01)* | - | 1 (.01)* | not listed |
| Exon 11 | c.2624A>G | p.E875G | 2 (.02)* | - | 2 (.02)* | rs1800124 |
Survey of genetic alterations of the ERCC4 gene identified in a sequencing study of 101 patients selected for familial breast cancer (n = 63, Set 1) or the p.R415Q haplotype (n = 38, Set 2). Mutations were designated according to the improved mutation nomenclature recommended by the Human Genome Variation Society [www.hgvs.org/mutnomen/], using the Ensembl transcript ID ENST00000311895 and protein ID ENSP00000310520 for the ERCC4 coding sequence. Rs numbers refer to the NCBI SNP database [http://www.ncbi.nlm.nih.gov/sites/entrez]. Het, heterozygous; hom, homozygous.
*
Percentage refers to the total series of 101 sequenced patients.