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Table 3 Stability of the mutant allele

From: Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation

   Fragment analysis MiSeq (VAF)  
Donor RIND score Ratio peak height (mutant/WT allele) cDNA cDNAp gDNA Evidence for NMD?
M01 c.1A > G 3 0.7 (0.6–0.8) 49 (42–55) 52 (51–52) 49 (49–49) No
M02 c.1A > C 2 / / / / No
M03 c.212 + 3A > G 2 / / / / No
M04 c.1961del 0 0.4 (0.4–0.4) 29 (25–33) 47 (43–51) 47 (47–47) Yes
M05 c.2359dup 3 0.6 (0.6–0.6) 28 (25–31) 42 (38–45) 48 (48–48) Yes
M06 c.2359dup 2 0.5 (0.5–0.5) 24 (23–25) 44 (41–47) 50 (50–50) Yes
M07 c.2359dup 0 0.4 (0.4–0.5) 29 (27–30) 48 (30–67) 57 (55–59) Yes
M08 c.2359dup 4 / / / / Yes
M09 c.3331_3334del 1 0.4 (0.4–0.4) 25 (18–31) 44 (34–48) 49 (49–49) Yes
M10 c.3481_3491del 2 0.4 (0.4–0.4) 23 (16–30) 42 (28–52) 39 (32–46)a Yes
M11 c.3481_3491del 1 0.4 (0.3–0.5) 23 (16–32) 41 (23–54) 39 (34–44)a Yes
M12 c.3481_3491del 2 0.4 (0.4–0.4) 26 (16–34) 39 (28–50) 42 (35–49)a Yes
M13 c.3661G > T 1 0.5 (0.3–0.6) 29 (28–30) 50 (41–57) 50 (46–53) Yes
M14 c.3661G > T 0 0.4 (0.3–0.4) 31 (29–32) 52 (52–52) 50 (50–50) Yes
M15 c.3661G > T 0 / / / / Yes
M16 c.4327C > T 3 0.5 (0.5–0.6) 24 (21–27) 51 (45–56) / Yes
M17 c.4327C > T 3 0.6 (0.4–0.7) 26 (21–30) 48 (44–53) 50 (50–50) Yes
M18 c.4931_4393delinsTT 0 0.4 (0.3–0.4) 30 (28–31) 37 (28–47) 52 (52–52) Yes
  1. cDNA complementary DNA, cDNAp cDNA extracted in the presence of puromycin, gDNA genomic DNA, NMD nonsense mediated decay, RIND radiosensitivity indicator, VAF variant allele frequency, WT wild type
  2. aVAF <50 % for gDNA