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. 2018 Apr 17;9(29):20928–20940. doi: 10.18632/oncotarget.25037

Figure 3. PCR sequencing of germline DNA.

Figure 3

(A) IGV Alignment BRIP1 G212fs*62: BRIP1 G212fs*62 mutation was detected in buccal swab DNA and in peripheral blood DNA of the patient. The forward and reverse sequence alignment stops at G212 due to the frameshift in the mutated sample. Negative control sample aligns perfectly to the reference sequence. BRIP1: reference sequence of BRIP NM_032043; BuccalSwabRev: DNA from buccal swab of the patient (reverse strand); BuccalSwabFor: DNA from buccal swab of the patient (forward strand); PBRev: DNA from peripheral blood (PB) of the patient (reverse strand); PBFor: DNA from PB of patient (forward strand), negRev: negative control DNA from PB (reverse strand); negFor: negative control DNA from PB (forward strand). (B) BRIP1 nucleotide insertion leads to a frameshift mutation. (C) IGV Alignment TP53 Exon 8: TP53 C277Y mutation could not be detected in buccal swab DNA. Alignments are identical to the reference sequence. TP53: reference sequence (NM_001126114), TP53 buccal For: DNA from buccal swab of patient. TP53buccal Rev: DNA from buccal swab of patient.