The identification and interpretation of germline BRCA1/2 variants become increasingly
important in breast and ovarian cancer (OC) treatment. However, there is no comprehensive …

… We assigned clinical significance for all variants using BRCA1 and BRCA2 variant
classification criteria that were developed by members of the Evidence-based Network for the …

… Fifteen variants in BRCA1 and 28 variants in BRCA2 were filtered out due to insufficient
evidence in ClinVar, with a high fraction (47% and 71%, respectively) identified on-tumor (ie, in …

… /2 mutational profile in Lithuania. We aimed to define the full BRCA1 and BRCA2 mutational
… A comprehensive mutation analysis of the BRCA1/2 genes by high resolution melting …

… related to germline variants in BRCA1 and BRCA2, two genes … A germline mutation in BRCA1
or BRCA2 genes is known to … structural variants, and also present a clearly distinct profile …

… variant is typically very low. In the present case, we could recognize BRCA2 I2675V, with a
VAF of 5.9%, as a germline variant by … missed more germline variants in the tumor-only CGP. …

… variants with unknown relevance for tumorigenesis were found in 72 families. Correlation of
BRCA1/BRCA2 … In summary, the BRCA1/BRCA2 mutation profile established for the German …

Frontiers | Genomic landscape of advanced prostate cancer patients with BRCA1 versus
BRCA2 mutations as detected by comprehensive genomic profiling of cell-free DNA Skip to …

… BRCA2 variants leading to full exon 3 skipping strongly inclines in favor of a pathogenic
role of these variants [… were able to provide evidence assessing two BRCA2 variants (c.7618-2A>…

… Here, we describe a comprehensive clinical testing approach for the assessment … BRCA2
variants together with a matching number of samples without any mutation in BRCA1 or BRCA2…