Germline BRCA testing in routine clinical practice: a single-center experience.

Area of Science:

• Medical Genetics
• Oncology
• Genomics

Background:

• Germline BRCA1/2 (gBRCA1/2) mutations are key in hereditary breast cancer.
• Identifying these mutations impacts treatment and family healthcare management.

Purpose of the Study:

• To analyze the prevalence and types of gBRCA1/2 pathogenic/likely pathogenic (P/LP) variants in breast cancer patients.
• To correlate gBRCA1/2 variants with histopathological data and clinical criteria.
• To assess the impact of gBRCA1/2 testing on patient management.

Main Methods:

• Retrospective analysis of patient data from 2019-2021.
• Evaluation of germline BRCA1/2 status, histopathology, and clinical risk factors.
• Statistical analysis including odds ratios (OR) and confidence intervals (CI).

Main Results:

• Germline variants were found in 67/259 patients (25.9%), with 61 P/LP alterations.
• The likelihood of detecting a gBRCA1/2 mutation increased with the number of clinical risk criteria (OR 10.65 for ≥3 criteria).
• Positive family history (OR 6.69) and triple-negative breast cancer (OR 5.65) were strong independent predictors.
• Healthcare management was modified in 86.9% of cases upon identification of gBRCA1/2 alterations.

Conclusions:

• Germline testing for BRCA1/2 in breast cancer patients is essential for optimizing care.
• Adherence to clinical criteria ensures effective patient selection for germline testing.
• Testing identifies patients and families eligible for targeted therapies and hereditary cancer risk assessment.