Objective: Massive parallel sequencing (MPS) is the new frontier for molecular diagnostics.
Twenty-four papers regarding BRCA analysis were considered for reviewing all pipelines …

Context: Pheochromocytomas and paragangliomas are notable for a high frequency of
inherited cases, many of which present as apparently sporadic tumors. Objective: The …

Familial hypercholesterolaemia (FH) is characterized by increased circulating low-density
lipoprotein (LDL) cholesterol leading to premature atherosclerosis and coronary heart …

Background Accurate and sensitive detection of BRCA1/2 germ-line mutations is crucial for
the clinical management of women affected by breast cancer, for prevention and, notably …

BACKGROUND Despite advances in next generation DNA sequencing (NGS), NGS-based
single gene tests for diagnostic purposes require improvements in terms of completeness …

We wanted to implement an NGS strategy to globally analyze hereditary cancer with
diagnostic quality while retaining the same degree of understanding and control we had in …

Genetic testing for hereditary breast and/or ovarian cancer mostly relies on laborious
molecular tools that use Sanger sequencing to scan for mutations in the BRCA1 and BRCA2 …

Mutation in BRCA1/BRCA2 genes accounts for 20% of familial breast cancers, 5% to 10% of
which may be due to other less penetrant genes which are still incompletely studied. Herein …

To meet challenges in terms of throughput and turnaround time, many diagnostic
laboratories are shifting from Sanger sequencing to higher throughput next-generation …

Genetic testing of BRCA1/2 includes screening for single nucleotide variants and small
insertions/deletions and for larger copy number variations (CNVs), primarily by Sanger …