Sentence examples for mutation prevalence for from inspiring English sources

For example, determining mutation prevalence (for a range of specific mutations, as well as mutational frequency of any single gene), or the frequency at which any particular gene leads to any single phenotype, remains to be defined for most diseases.

The computed mutation prevalence for the known cancer genes overlapped with those of previous studies.

For this purpose, we used the BRCA1 and BRCA2 mutation prevalence for young controls (BRCA1: 1.6% and BRCA2: 1.2%) reported in Satagopan et al (2001).

The independent cohort demonstrated a slightly lower mutation prevalence for BAP1, however, resulting in a detection certainty of 80% with three samples.

Risks were computed for women of Ashkenazi Jewish origin assuming BRCA1 and BRCA2 mutation prevalence for young controls (BRCA1: 1.6% and BRCA2: 1.2% Satagopan et al, 2001; Antoniou et al, 2008a).

We then used binomial distribution and the estimated intratumor mutation prevalence for each gene to calculate probability of detecting a mutation in that gene as a function of total number of biopsies.

As shown in Figure 5B, the estimated mutation prevalences for BAP1, SETD2, and PBRM1 mutations were 41%, 53%, and 69%, respectively, compared to our cohort which was 58%, 70%, and 75%, respectively.

Slight discrepancies between our observations and the reported mutation frequencies for oncogenes included lower than expected mutation prevalences for beta-catenin (CTNNB1) and BRAF in pancreatic and colorectal tumours, respectively; and higher than the reported frequencies for NRAS in colorectal cancer.

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.

Seven significantly mutated genes, including four reported (APC, TP53, KRAS and SMAD4) and three novel recurrently mutated genes (CDH10, FAT4 and DOCK2), exhibited high mutation prevalence (6 14% for novel cancer genes) and higher-than-expected number of non-silent mutations in our CRC cohort.

Cost considerations are also likely to be a critical factor, and health economic analyses need to be undertaken to provide a basis for decisions on which mutation prevalence thresholds to use for an offer of treatment-focused genetic counselling and testing consistent with local resources.