Table 2 Sequencing of BRCA1 and BRCA2
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 |