analysis in the diagnostic process of breast cancer: An Italian monocentric experience.

BACKGROUND

The clinical utility of germline and testing is well established in patients with family history suggestive for hereditary breast and ovarian cancer syndrome. Recently, germline pathogenic variants were also associated with an increased risk of breast and other cancers and, in the Italian population, it has been described in few studies without a systematic germline analysis of , and .

OBJECTIVES AND METHODS

In this study, we described ASST Sette Laghi cancer genetic counselling services' experience in the analysis of 402 patients with suspected breast and ovarian cancer syndrome, by using , and germline genetic test.

RESULTS

The frequency of pathogenic variants was 1.2% compared to 3.5% and 3.2% for and , respectively, whereas class 3 variants were detected in 0.3% and 0.5% of the and investigated patients, respectively. pathogenic variants were identified in patients with a strong family history for breast cancer. Moreover, variants were significantly associated with a younger age of breast cancer onset (mean age, 40.25 years) compared to patients (mean age 51.2 years, p-value = 0.0331). Similar to -associated breast cancer, the majority of breast cancers were identified at an advanced clinical stage. Pedigree analysis revealed a family history of breast and ovarian cancer syndrome in all pathogenic variants carriers (early breast cancer onset, bilateral breast cancer and ovarian cancer).

CONCLUSION

In conclusion, the germline analysis of and should be included in breast cancer clinical practice as a not negligible number of carriers could be identified and referred to specific surveillance protocols.