Sentence examples for mutations in high from inspiring English sources

Typically, in genetic diseases caused by mutations in high proportion of DNA, sensitivity of diagnostic assays is not a critical factor for SNP detection.

For instance, inherited breast cancer predisposition is currently thought to result from rare high penetrance mutations in high risk families, or multiplicative effects of moderate penetrance variants or common low risk variants in the population [ 1, 2].

When we compared the frequencies of the K-ras mutations in high- and low-risk HPV-positive samples we failed to detect any correlation between the HPV type and K-ras mutation.

In conclusion, we have shown that the Fmoc-SPPS of Ub reported here enables the parallel incorporation of desired tags, labels, and mutations in high yields with high purities.

Altogether, however, mutations in high and moderate penetrance genes probably account for approximately 25% of familial breast cancer risk; the remainder may be due to mutations in as yet unidentified genes or lower penetrance variants.

While predisposition to breast cancer is largely due to mutations in high penetrance tumor suppressor genes such as BRCA1 and BRCA2, progression of cancer is the result of accumulation of genetic alterations.

Some candidate oncogenes that map to these loci have been implicated by the identification of mutations in high-risk kindreds.

Cyclin-dependent kinase inhibitor type 2A (CDKN2A) has been identified as a major melanoma susceptibility gene based on the presence of germline mutations in high-risk melanoma families.

Advances in next-generation sequencing (NGS) have facilitated parallel analysis of multiple genes enabling the implementation of cost-effective, rapid, and high-throughput methods for the molecular diagnosis of multiple genetic conditions, including the identification of BRCA1 and BRCA2 mutations in high-risk patients for hereditary breast and ovarian cancer.

Mutations in high-risk genes such as BRCA1 increase the risk for several hormone-related cancers.

More recent studies have been successfully identified BARD1 mutations in high-risk families [ 8, 115].