Genetic alterations of the ERCC4 gene in German and Byelorussian breast cancer patients.

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.