Secondary Prevention in Hereditary Breast and/or Ovarian Cancer Syndromes Other Than BRCA.

BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndromes are among the best-known and most extensively studied hereditary cancer syndromes. Nevertheless, many patients who proved negative at BRCA genetic testing bring pathogenic mutations in other suppressor genes and oncogenes associated with hereditary breast and/or ovarian cancers. These genes include in Li-Fraumeni syndrome, in Cowden syndrome, mismatch repair () genes in Lynch syndrome, in diffuse gastric cancer syndrome, in Peutz-Jeghers syndrome, and in neurofibromatosis type 1 syndrome. To these, several other genes can be added that act jointly with and in the double-strand break repair system, such as , , , , , and . Management of primary and secondary cancer prevention in these hereditary cancer syndromes is crucial. In particular, secondary prevention by screening aims to discover precancerous lesions or cancers at their initial stages because early detection could allow for effective treatment and a full recovery. The present review aims to summarize the available literature and suggest proper screening strategies for hereditary breast and/or ovarian cancer syndromes other than BRCA.