Journal of Genetic Syndromes & Gene Therapy
Open Access

Hereditary Breast Cancer Scholarly Journal

Breast cancer is the most frequent malignant disease and the leading cause of cancer death among women in both economically developed and developing countries. Globally, 1.4 million new breast cancer cases are diagnosed each year, of whom approximately one-third die of the disease. The incidence rates are highest in the Western world, where the lifetime risk of developing breast cancer is estimated to be one in nine. Owing to increased awareness, early detection, and better treatment options available, breast cancer mortality rates have declined in recent years.

In the middle of the 19th century, the first reports emerged, describing familial aggregation of breast cancers. Today, positive family history is one of the most important risk factors for developing breast cancer. It is currently estimated that approximately 5–10% of all breast cancers have a hereditary background. These families show an apparently dominant inheritance pattern and are often characterized by an early age of onset, the overrepresentation of ovarian cancers, bilateral breast cancers, and male breast cancers.

Breast tumors express a number of immunohistochemical (IHC) markers providing both prognostic and predictive information. The estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor (EGFR) 2 (HER2) are among the most important IHC markers. Among sporadic tumors, 70% are ER-positive and 50% are PR-positive, and HER2-overexpression is observed in approximately 15% of the cases. ER-positive tumors respond better to endocrine anti-estrogen treatment, whereas tumors overexpressing HER2 respond well to targeted therapy such as trastuzumab (Herceptin). Approximately 20% of all breast cancer cases are negative for ER, PR, and HER2, known as “triple-negative” (TN) cancers. The prognosis of TN tumors is very poor, not only because these tumors seem to be more aggressive than other breast cancers but also because endocrine and anti-HER2 therapies are ineffective, leaving chemotherapy as the only treatment option available