24,25BRCA2 carriers are more likely to develop estrogen receptor–positive cancers, so their lower contralateral breast cancer risk estimates may in part be due to greater use of endocrine therapy. Hormone and chemotherapeutic treatments were not considered, so the present estimates represent risks ...
Note that each number in parentheses [1, 2, 3, etc.] is a clickable link to peer-reviewed scientific studies. A plus sign next to the number “[1+, 2+, etc...]” means that the information is found within the full scientific study rather than the abstract. Learn about theBRCA1and...
That is a one in eight lifetime risk for every woman. One in every 500 women will test positive for the BRCA genetic mutation in their lifetime, making it very rare ("BRCA Gene Mutations"). Testing positive means that genetically, a person has heightened cancer risks.Nilan, Elizabeth...
represent the mean ± SD of four independent experiments. (ns, not significant).dFrequency of mCherry positive cells in cells transfected with the promoter-less donor plasmid (AAVS1-2A-mCherry) without (−TALEN) (open circles) or with (+TALEN) nucleases (filled circles). The error ba...
(Dv ∣ Data) that result from a given model. We also compute Bayesian estimates of the sensitivity, specificity, false-positive, false-negative, and no-call rates associated with each VarCall model. In particular, for each model, we estimate the conditional distributions over the estimated...
Top: correlation matrix of these genes indicating strong positive pairwise correlations within control samples (Pearson’s R = 0.92, 0.91, and 0.89) and modest positive correlations within BRCA2 carriers (Pearson’s R = 0.33, 0.28, 0.27). Sample IDs, age, and parity of the samples are as...
A clinical diagnostic laboratory validation of the Ion Torrent platform demonstrated an absence of false negatives and a 10 % false positive rate [33]. With the availability of a three-tube multiplex for the complete BRCA1 and BRCA2 genes we sought to apply this approach to a cohort of ...
Positive controls can take the form of nucleic acid molecules or proteins that have the same sequences that correspond to the nucleic acids of the mutant/polymorphic BRCA1 and BRCA2 genes or proteins encoded by such genes. Negative controls can take the form of nucleic acid molecules or ...
The proportion of mutation-positive families was very similar to that reported in independent studies of families not selected for ethnicity. However, 84 % of mutation-positive families were accounted for by one of eight pathogenic m...
The majority of mutation-positive women preferred prophylactic surgery to surveillance. Psychological differences appeared to have little influence on disclosure patterns and management strategies. The gender difference seems to be less pronounced than previously assumed. A striking observation, however, is ...