Sentence examples for disease predisposing mutation from inspiring English sources

Of the 200 patients, 39 (19.5 %) carried a disease predisposing mutation, including 28 (14 %) with a BRCA1 mutation and 11 (5.5 %) with a BRCA2 mutation.

Disease predisposing mutations of NOD2 are present in Turkish and Iranian patients, but they are absent in Japanese, Han Chinese, Indian, and Malaysian patients with CD [ 6].

Even mutations confirmed to confer susceptibility must be considered among the full profile of disease predisposing variation present in any individual.

Using Markov-chain Monte Carlo siMarkov-chain Montewe obtain posterior distributions of model parameter estimates inCarlong disimulation location and the age of the disease-predisposing methodsn.

Given the failure of candidate gene analysis, it seemed intuitive that whole-genome techniques might be required to identify the disease-predisposing mutations.

The search for breast cancer predisposing mutations is considered to be particularly effective in patient series with a pronounced family history of the disease.

However, it does not explain the disease predisposing effect.

The factor V Leiden mutation results in activated protein C resistance at the molecular level and predisposes mutation carriers to develop thrombotic diseases.

3) Type 2C VHL disease caused by specific VHL mutants such as L188V and V84L predispose mutation carriers to familial pheochromocytomas without hemangioblastomas or renal carcinomas.

The involvement of PTEN in human mammary oncogenesis has been implicated from studies showing that germline PTEN mutation in Cowden disease predisposes to breast cancer, the frequent loss of heterozygosity at the PTEN locus, and reduced PTEN protein levels in sporadic breast cancers.

Underlying diseases, predisposing factors, laboratory data, and outcome were analyzed.