Sentence examples for most recurrent mutations from inspiring English sources

Among the most recurrent mutations, the c.2536G>A transition, predicting the substitution of Glu846 by lysine within the CDC25 domain, accounted for 10% of defects.

Except of the most recurrent mutations which were described, approximately all of the populations, even among the same ethnics, show different BRCA1 and BRCA2 mutation may patterns.

Overall, with the exception of alterations in DNMT3A, the most recurrent mutations within ERG families were associated with loss of function.

Among these, the most recurrent mutations affect Met269 (10% of total cases), which interacts directly with residues of the REM domain implicated in RAS binding [Sondermann et al., 2004].

The BRCA1 c.916_917delTT mutation was the most represented BRCA1 variant (three positive families out of 348 cases; 1%), while the variants c.8764_8765delAG and c.3950_3952delTAGinsAT were the most recurrent mutations in BRCA2 among patients with a positive family history [13/348 (4%) and 7/347 (2%), respectively].

We demonstrate that TERT promoter mutations comprise the most recurrent mutation in adult SHH tumors identified to date and potentially define distinct prognostic subgroups in SHH and Group 4 medulloblastoma patients.

In this study, we demonstrate that TERT promoter mutations, initially described in melanoma [ 10, 11], comprise the most recurrent mutation described so far across medulloblastoma subgroups, with a particular enrichment in older patient cohorts.

Three deleterious BRCA germline mutations have been observed in about 15% families and in about 3% non-familial breast cancer patients from North Sardinia (BRCA2 mutations were the most prevalent BRCA sequence variations and a single variant, BRCA2-8765delAG, was the most recurrent mutation with a founder effect in our population) [ 23- 25].

Mutations in KRT16 were found in 24 families; the most common recurrent mutations identified were K16 p.Arg127Cys, p.and127Cys and p.Leu132Pro (www.interfil.org).org

The 5382insC in exon 20 of BRCA1 is also one of the most common recurrent mutations in Central and Eastern Europeans [ 5- 9].

The deletion of BRCA1 exon 22, the most recurrent Dutch mutation, was identified in one Belgian patient with a Dutch mother.