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. 2018 Apr 27;23:20. doi: 10.1186/s40001-018-0318-9

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