The introduction of Poly (ADP-ribose) Polymerase (PARP) inhibitors in both metastatic and early-stage breast cancer (BC) treatment has led to the emergence of Mainstreaming Cancer Genetics (MCG) as a new approach to genetic counselling, predictive of...
The right classification of variants is the key to pre-symptomatic detection of disease and conducting preventive actions. Since BRCA1 has a high incidence and penetrance in breast and ovarian cancers, a high-performance predictive tool can be employ...
Breast cancer dominates women's mortality, and among other factors, mutations in the BRCA1 gene are significant risk factors. Several approaches are followed to treat the BRCA1 affected cancer patients. However, specific BRCA1 inhibitors are not avai...
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
Aug 12, 2023
BRCA1 and BRCA2 genes play a crucial role in repairing DNA double-strand breaks through homologous recombination. Their mutations represent a significant proportion of homologous recombination deficiency and are a reliable effective predictor of sens...
BACKGROUND: Robotic nipple-sparing mastectomy (RNSM) has emerged as a new treatment option for breast cancer and risk-reducing mastectomy (RRM) for women who have a high risk of pathogenic variants. Even though several studies have reported that RNSM...
With the surge of the high-throughput sequencing technologies, many genetic variants have been identified in the past decade. The vast majority of these variants are defined as variants of uncertain significance (VUS), as their significance to the fu...
International journal of molecular sciences
Sep 26, 2022
BRCA 1/2 genes mutation status can already determine the therapeutic algorithm of high grade serous ovarian cancer patients. Nevertheless, its assessment is not sufficient to identify all patients with genomic instability, since BRCA 1/2 mutations ar...
Computational intelligence and neuroscience
Sep 19, 2022
To diagnose and cure breast cancer early, thus reducing the mortality of patients with breast cancer, a method was provided to judge threshold of image segmentation by wavelet transform (WT). It was used to obtain information about the general area o...
BACKGROUND: Identifying breast cancer patients with DNA repair pathway-related germline pathogenic variants (GPVs) is important for effectively employing systemic treatment strategies and risk-reducing interventions. However, current criteria and ris...
gene testing is a difficult, expensive, and time-consuming test which requires excessive work load. The identification of the gene mutations is significantly important in the selection of treatment and the risk of secondary cancer. We aimed to deve...
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