Hereditary cancer predispositions: Comparison of multigene panel sequencing on fresh‐frozen breast/ovarian tumor versus blood

Abstract

In breast or ovarian cancer (BC/OC) patients with evocative personal and/or family history, multigene panel sequencing is performed on blood to diagnose hereditary predispositions. Additionally, BRCA1/BRCA2 testing can be performed on tumor sample for therapeutic purpose. The accuracy of multigene panel tumor analysis on BC/OC to detect predisposing germline pathogenic variants (gPV) has not been precisely assessed. By comparing sequencing data from blood and fresh-frozen tumor we show that tumor genomic instability causes pitfalls to consider when performing tumor testing to detect gPV. Even if loss of heterozygosity increases germline signal in most cases, somatic copy number variants (CNV) can mask germline CNV and collapse point gPV variant allele frequency (VAF). Moreover, VAF does not allow an accurate distinction between germline and somatic pathogenic variants.

Antiproliferative and Apoptotic Effects of Tempol, Methotrexate, and Their Combinations on the MCF7 Breast Cancer Cell Line

“…2 High incidence and mortality rates cause the studies on the treatment of this disease to increase everyday. 3 Presently, while surgical resection, chemotherapy, and radiotherapy are employed in the management of breast cancer, there is still no conclusive treatment available to proactively prevent the onset of breast cancer. 4 Chemotherapeutic agents used in the treatment cause significant damage to cell deoxyribonucleic acid (DNA) by affecting healthy cells as well as cancer cells.…”

“…Specifically, breast cancer stands out as one of the most prevalent cancer types and holds the primary position among all cancers diagnosed in women globally (24.5%) . High incidence and mortality rates cause the studies on the treatment of this disease to increase everyday …”