Skip to main content

Table 2 Sequencing of BRCA1 and BRCA2

From: Saliva samples as a source of DNA for high throughput genotyping: an acceptable and sufficient means in improvement of risk estimation throughout mammographic diagnostics

Individual Gene Mutation Source of DNA
01 BRCA1 Deletion of Exons 1a, 1b and 2, IARC class 5. HGVS:c.(?_-200)_(80+1_81-1)del Blood
01 BRCA1 Deletion of Exons 1a, 1b and 2, IARC class 5. HGVS:c.(?_-200)_(80+1_81-1)del Saliva
02 BRCA2 Exon 11:c.6379delA heterozygote; p.(Ser2127Valfs*10): IARC class 5 Blood
02 BRCA2 Exon 11:c.6379delA heterozygote; p.(Ser2127Valfs*10): IARC class 5 Saliva
03 BRCA1 Exon 2: c.68_69delAG heterozygote, p./Glu23Valfs*17) (BIX: 18delAG); IARC class 5 (pathogen) Blood
03 BRCA1 Exon 2: c.68_69delAG heterozygote, p./Glu23Valfs*17) (BIX: 18delAG); IARC class 5 (pathogen) Saliva