Sentence examples for mutation carriers and from inspiring English sources

Forty BRCA1/2 mutation carriers and 16 clinicians participated.

This is particularly worrisome because it means that doctors are missing the opportunity to prevent cancers in mutation carriers and their family members.

TNBC has molecular features that overlap with breast cancer in BRCA1 germline mutation carriers and with those of the basal-like molecular class of tumours.

Fibroblasts were cultured from skin biopsies obtained from three patients with homozygous parkin-null mutations, two heterozygous mutation carriers and two wild-type controls.

Some recent studies, she said, suggest "we are missing a decent percentage of genetic mutation carriers and we are potentially undertreating them and not identifying family members" who might also be carriers and at higher risk for cancer.

Initially, the project plans to enroll 100 relatives with the mutation who will receive the drug, plus 100 mutation carriers and 100 noncarriers who will receive a placebo.

We also did not find PSAV to be an independent prognostic factor in BRCA1 or BRCA2 mutation carriers and therefore for screening an absolute PSA cut-off value should preferably be used.

First, we compared the incidence of prostate cancer in relatives of mutation carriers and noncarriers using standard techniques for survival analysis.

We found a novel CCM1 gene mutation (Q66X) in a family with apparently asymptomatic old-aged mutation carriers and patients who either had skin angiomas alone or the full association of cerebral, spinal, and skin lesions.

The failure to identify mutation carriers among probands represents a lost opportunity to prevent cancer in unsuspecting relatives through risk-reduction intervention in mutation carriers and to provide appropriate reassurances to noncarriers.

On detailed CMR, a focal "crinkling" of the RV outflow tract and subtricuspid regions ("accordion sign") was observed in 60% of the mutation carriers and none of the noncarriers (p < 0.001).