Introduction:

Identification of germline genetic mutations in patients with breast cancer (BRCA1/2, PALB2, TP53, among others) is essential to understanding the etiology of breast cancer, especially in populations with familial predisposition, and is crucial for risk assessment and management in patients with breast cancer. The prevalence of these mutations may vary widely among different populations. In Paraguay, this prevalence is still unknown due to the lack of a database of germline genetic mutations identified in the population and the absence of related publications.

Objective:

To describe the germline mutations identified through genetic testing in women with breast cancer in Paraguay who were evaluated in genetic counseling clinics at three hospital centers.

Materials and Methods:

This was an observational, descriptive, retrospective, multicenter study of germline mutation findings in patients with breast cancer from December 2020 to December 2024.

Results:

Sixty-nine patients with breast cancer were tested. Mutations in the BRCA2 (12.5%) and PALB2 (9.4%) genes were the most frequent. Most mutations were variants of uncertain significance (VUS) (31.9%), followed by pathogenic findings (14.5%). High-risk genes showed a significant association with pathogenic findings.

Conclusion:

The frequency of PALB2 mutations was significant and similar to that of BRCA2 mutations, particularly in patients younger than 45 years with luminal tumors and a family history of cancer. Although most findings were VUS, high-risk genes showed a significant association with pathogenic findings.

        · resumen en Español     · texto en Español | Inglés     · Español ( pdf ) | Inglés ( pdf )