Hereditary breast–ovarian cancer syndrome remains a major cause of death in women. The appearance of this type of cancer is linked to a number of germline mutations of autosomal dominant inheritance, in tumor suppressor genes, BRCA1 and BRCA2.
Both genes encode proteins that regulate the cell cycle and proper cell division. Among patients reported, they found small insertions or deletions in any of the genes. Thus, the encoded proteins would not be quite correct, favoring the possibility of uncontrolled cell proliferation causing a breast or ovarian cancer.
Patients that present family members affected by the disease, when the pathology appears in women under 30 years, or the presence of breast cancer in a male relative, are some of the risk factors that increase the chance of getting this disease.
Risk-reducing mastectomyor and tamoxifen chemoprevention (estrogenic activity modulator) have been used as prophylaxis against disease.
Although it is still a great unknown, genetic counseling may be considered as a prevention tool against cancer hereditary breast-ovarian family.
Thanks to massive sequencing technology and high-resolution genomic platforms, Bioarray offers a NGS panel, with which it is possible to detect mutations in the BRCA1 and BRCA2 genes, allowing early detection of hereditary cancer families, in a simple blood test .