Germline testing should look for microsatellite instability, as well as BRCA1, BRCA2, ATM, and PALB2 mutations, Saif adds. It is necessary to understand the disease and stage, as well as the molecular makeup of each tumor, Saif says. Testing should occur in initial work-up, and results...
BL provided the first conclusive evidence for the deregulation mechanism. This tumor type was found to harbor one of three translocations: t(8;14)(q24;q32), t(2;8)(p11;q24) or t(8;22)(q24;q11). In all three, the breakpoints in chromosome 8 were found to be within or adjacent ...
False-positive rates by MRI, mammography, or a combination of both were 0.10 (95% CI 0.03–0.18), 0.05 (95% CI 0.03–0.06), and 0.14 (95% CI 0.04–0.24). In BRCA positive women, cancer detection rates by MRI were 0.027 (95% CI 0.015–0.040), by mammography 0.010 (95% CI 0.005...
In breast cancer patients with hormone receptor-positive disease, the need for adjuvant endocrine therapy is another important issue to be considered: its use for up to 5–10 years can lead to a natural decline in ovarian reserve due to age, thus hindering the chances of future pregnancies. ...
For women negative for the BRCA1 mutation, 59% of the physicians recommended appropriate surveillance although with significant differences among specialties; P = 0.01. Using an aggregate screening intensity score, physicians clearly recommended more intense screening for mutation positive than negative ...
Results: Of the 45 tests we identified, 9 received strong recommenda- tions for their usage in clinical settings, 14 received positive but mod- erate recommendations, and 22 were not currently recommended. For 18 tests, two or more different sources had issued recommendations, with 67% ...
The first dataset contained cell survival results (phenotypes: LoF, intermediate function, and functional) from 414 BRCA1 variants13 supplemented with computational splicing prediction results (this study). While the cell survival functional assay did not provide specific results about splicing events, ...
Our preliminary findings include 8 patients who completed germline genetic testing. Of these, one patient tested positive for a BRCA1 pathogenic variant. We are planning to continue to collect this data to better inform clinical practice. 展开 DOI: 10.1093/neuonc/noae165.0055 年份: 2024 ...
any benefits and harms may affect not just the individual whose genome data are analyzed, but their genetic relatives as well. Notwithstanding the requirement that the proportionality balance must be positive for the persons being screened in the first place, these ‘third party’ effects should be...
Of the participants, all seven reported a positive experience and indicated that they would forward it to their friends. When asked if they printed the results to discuss with their doctor, four responded that they had not thought of this option. In light of that feedback, a ‘call for ...