Clinically Significant and Germline Variants in Breast Cancer-A Single-Center Experience.

Background: Conditions associated with pathogenic (PVs) or likely pathogenic variants (LPVs) are often severe. The early detection of carrier status is ideal, as it provides options for effective case management.

Materials And Methods: The study involved 58 patients with a personal and familial history of breast cancer (BC) who underwent genetic testing at the Regional Centre for Medical Genetics Dolj over a three-year period. An immunohistochemical panel (HER2, ER, PR, and Ki-67) was used to define the molecular subtypes of breast tumors. The AmpliSeq for Illumina Panel was used to evaluate germline variants in the and genes in patients with BC. The χ test and Fisher's exact test were used to compare the different parameters studied.

Results: Our findings revealed that 15.5% of the patients carried either or PVs or LPVs. carriers had aggressive tumors whereas carriers had rather low-grade tumors.

Conclusions: The study revealed that PVs in both BRCA genes have a significant frequency among BC patients in our region, and carriers tend to develop more aggressive tumors than carriers of PVs and patients with no germline PVs in either of the two genes. These observations could provide new epidemiologic data for this disease in our region and contribute further to the development of national screening strategies.