Sentence examples for mutation carriers such from inspiring English sources

Families in Western countries are becoming smaller and other factors to identify BRCA1/2 mutation carriers, such as the type of breast tumor, are becoming more important.

For recipients with positive results, the long-term negative consequences of being mutation carriers, such as the inconvenience of regular lifelong medical surveillance and the potential for social discrimination, may only become apparent a few months after result disclosure.

The latter is expressed in the Müllerian ducts during embryological development, which later differentiate into internal reproductive organs including fallopian tubes, uterus, cervix, and a portion of the vagina, as well as other extra-uterine structures carrying increased cancer risk in BRCA1 mutation carriers such as endosalpingiosis.

Having precise estimates of these risks is important for counselling mutation carriers, and such estimates are fundamental components of cancer risk prediction models.

High throughput drug screening using cells from C9ORF72 mutation gene carriers, such as those that we have derived from the VSM-20 family, could be used to screen for potential compounds.

As well as improvements in the understanding of the relative efficacies of conventional chemotherapy agents in the adjuvant treatment of BRCA1 or BRCA2 mutation carriers, novel agents such as PARP inhibitors have been developed that exploit the effect of a mutated gene in the associated cancers.

Among known predisposition genes, deleterious mutations in BRCA1 and BRCA2 confer the strongest effect on disease susceptibility and are associated with a lifetime risk of breast cancer of up to 85% for such mutation carriers [ 4, 5].

In the setting of fully informed consent (including essential details such as the lack of guaranteed medical benefit and the risk of learning mutation carrier status without such benefit), it is possible that at least some of these individuals would choose not to undergo genetic testing for the sake of enrolling in a trial.

The dosage testing does not identify such point mutation carriers.

From the data collected from medical records and risk factor questionnaires of all women, we concluded that DDRP mutation carriers had clinico-pathological features (such as size and stage) similar to those of 'sporadic' cases.

Detection of BRCA mutation carriers can lead to therapeutic interventions such as mastectomy, oophorectomy, hormonal prevention therapy, improved screening, and targeted therapies such as PARP-inhibition.