GENETIC COUNSELING AND TESTING IN BREAST CANCERS

Cancer may be present in a family due to shared environmental exposure (diet, environment, lifestyle, and workplace exposures). The referred cases may occur as a result of gene interactions, gene-environment interactions, or both.

Sporadic cancer has an average risk of occurring, familial cancer has a moderate risk, inherited cancer has a high risk of occurring.

Regarding BRCA1/2 mutations, in cases affected by breast or ovarian cancer, we should perform genetic analysis and test possible relatives. To determine the therapeutic standard, surgery, chemotherapy, radiotherapy, targeted therapy.

To test females who are not affected in order to achieve prevention. Genetic testing for BRCA1/2 is considered when dealing with bilateral breast cancer, when facing the age of 40-45 years.

From a histopathological point of view, we are dealing with the triple-negative subtype (medullary carcinoma, lymphocytic infiltration). We have a personal or family history of breast cancer including male gender, ovary, pancreas, prostate. Genetic testing for predisposition in hereditary cancer is assessed in affected individuals or not.

BRCA testing has evolved in presenting new targeted therapies, making it possible to diagnose before treatment. The risk for other types of tumors: breast cancer in men BRCA2>BRCA1, pancreatic cancer BRCA2, prostate cancer BRCA2, melanoma BRCA2.

Regarding the issue of reproduction: the timing of oophorectomy for BRCA1 35 -40 years, for BRCA2 40-45 years. Fertility preservation is of particular importance. Early menopause has a role in the quality of life and in bone health.

The challenges of BRCA1/2 are particularly related to decisions regarding the reproductive part, family planning, psychological support, and most importantly, multidisciplinary care.