Particularly, one SMG (ie, FAT4) exhibited mutation prevalence of >10% and two SMGs (ie, DOCK2, CDH10) mutated at frequencies of >7%.
Overall, of the 321 non-TNBC women analyzed, 14 BRCandand 24 BRcarriersiers were identified, giving a mutation prevalence of 11.8%.
The mutation prevalence of each mutation type (C > A, C > G, C > T, T > A, T > C, T > G) was obtained for each chromosome of each cancer genome.
We determined a mutation prevalence of 9 of 73 acute myeloid leukemias (AMLs, 12%) and 9 of 441 acute lymphocytic leukemias (ALLs, 2%).
Microsatellite unstable gastric cancer were observed to have a higher mutation prevalence of both C > T transitions and C > A transversions [ 71].
All these genes had a mutation prevalence of ≥5% and about a quarter of patients with CRC in our cohort harboured at least one mutation in these five genes.
Both cases were Caucasian, yielding a mutation prevalence of 0.78%95%5% confidence interval (95%CI) 0.09 2.81%) and a relative risk (RR) of 7.8 (95%CI 1.8 9.4) for early-onset prostate cancer in white men carrying a protein-truncating BRCA2 mutation.
Similar to our study's 7271T>G mutation prevalence of 0.08% (one out of 1149), Chenevix-Trench et al (2002) observed one mutation among 525 cases and 381 controls (0.11%); all women included in the study were under age 40.
However (given the mutation prevalence of 0.5% in early-onset cases in this study), to generate a pedigree sample of sufficient size for analysis, it would be necessary to genotype many thousands of cases.
This percentage is high and in accordance with the study of Gachard et al. [ 8]; however it is lower compared to other studies reporting a MYD88 L265P mutation prevalence of 79%to100%0% [ 14– 18, 18, 20].
