Individuals harboring mutation at codon 1309 may be reported as associated with more extra-intestinal manifestations by virtue of being one of the more prevalent mutations, but does not appear to be associated with an increased risk of desmoid tumor formation when using our methods.
The potential of small-molecule drugs used in combination to modulate CFTR function in other, much more prevalent mutations in the cystic fibrosis population, most notably Phe508del, is real, although the exact role and 'real-life' clinical efficacy of this approach are still being debated and optimized.
The authors noted that mutations from G/C to A/T (that is, from G·C to A·T or to T·A) at synonymous sites were more prevalent than mutations from A/T to G/C, as has been noted in many other organisms (e.g., Lynch 2007), suggesting that still poorly defined selective forces drive A/T to G/C to achieve the observed genomic ratios.
More prevalent detected mutations, thought to contribute to antiretroviral resistance, were L63P (42%), L10I (35%), M36I (30%), V82A/T/F (26%).
In sporadic diffuse gastric cancer, promoter hypermethylation of CDH1 is more prevalent than mutation of the gene [ 56].
Moreover, for ages at diagnosis of 50 years and over BRCA2 mutations were predicted to be more prevalent than BRCA1 mutations, a feature similar to BOADICEA.
BRCA1 mutations, which seem to be more prevalent than BRCA2 mutations, probably account for a greater share of breast cancer cases [ 24].
This effect is mainly due to the fact that in smaller populations, drift is more prevalent and deleterious mutations have a higher chance of fixation.
Beijing/W strains are also widespread in Eastern Europe (1 ); during the last decade, the Beijing/W genotype of M. tuberculosis, with more prevalent drug-resistant mutations than non-Beijing strains, has been identified in 40%to50%0% of clinical isolates studied in Russia (4 ).
However, in 2004, Fu et al. identified the genetic mutation in 26 families with CGL and concluded that the phenotypic characteristics of patients with AGPAT2 (CGL1) and BSCL2 (CGL2) mutations are similar, with the exception that mental retardation is more prevalent with BSCL2 mutation (Table 1).
Although these mutations were found in all IPMN subtypes, GNAS mutations were more prevalent in the intestinal subtype, whereas KRAS mutations were more prevalent in the pancreatobiliary subtype [ 70– 72].
