Breast cancer (BC) is the most common cancer of women all over the world. BRCA1 and
BRCA2 gene mutations comprise the most important genetic susceptibility of BC. Except for …

Detection of mutations in hereditary breast and ovarian cancer-related BRCA1 and BRCA2
genes is an effective method of cancer prevention and early detection. Different ethnic and …

It is now commonly agreed that the human genome is not the stable entity originally
presumed. Deletions, duplications, inversions, and insertions are common, and contribute …

Increased demand for BRCA testing is placing pressures on diagnostic laboratories to raise
their mutation screening capacity and handle the challenges associated with classifying …

Germline mutations in BRCA1 and BRCA2 increase the risk for developing breast and
ovarian cancer. Previously, the techniques available allowed only for the identification of …

Background There are very few data about the mutational profile of families at-risk for
hereditary breast and ovarian cancer (HBOC) from Latin America (LA) and especially from …

Background Known risk alleles for epithelial ovarian cancer (EOC) account for
approximately 40% of the heritability for EOC. Copy number variants (CNVs) have not been …

Purpose Structural variation (SV) is associated with inherited diseases. Next-generation
sequencing (NGS) is an efficient method for SV detection because of its high-throughput …

Considering the importance of BRCA1, BRCA2, CHEK2 and TP53 in the development of
hereditary early-onset breast and ovarian cancer and that the genetic susceptibility profile of …

Highlights•NGS accelerates detection of RE insertions as part of a comprehensive testing
strategy.•37 unique RE insertions were identified in 10 cancer predisposition genes …