BACKGROUND: BRCA1-mutated cancers exhibit deficient homologous recombination (HR) DNA repair, resulting in extensive copy number alterations and genome instability. HR deficiency can also arise in tumors without a BRCA1 mutation. Compared with other ...
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...
Computational intelligence and neuroscience
36172325
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...
International journal of molecular sciences
36232628
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...
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...
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...
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
37580018
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...