BACKGROUND The analysis of relationships of BRCA alterations with cancer at sites other than breast/ovary may provide innovative information concerning BRCA pathogenic role and support additional clinical decisions. Aim of this study is to compare presence of cancers in other sites in members of hereditary (H) and not-hereditary (nH) branches of families of patients eligible to BRCA test. MET...

Of the more than 200,000 breast cancers diagnosed annually in the United States, 5-10% are associated with obvious hereditary predisposition, which is mostly related to autosomal dominant mutations of the BRCA1 and BRCA2 genes. BRCA1/2 mutations confer an increased lifetime risk for the development of breast cancer (up to 80%), contralateral breast cancer (about 30% at 10 years), ovarian cancer...

But isn't inherited breast cancer quite rare? Well of course most breast cancers aren’t hereditary. Inherited predisposition accounts for about 5% of all breast cancers — mutations in BRCA1 and BRCA2 probably cause a significant proportion of these. So BRCA mutation doesn’t cause a high fraction of all breast cancers, but, because this disease is so common (about 1 in 10 lifetime risk), it adds...

Several studies have demonstrated that familial breast cancers associated with BRCA1 or BRCA2 germline mutations differ in their morphological and immunohistochemical characteristics. Cancers associated with BRCA1 are poorly differentiated infiltrating ductal carcinomas (IDCs) with higher mitotic counts and pleomorphism and less tubule formation than sporadic tumours. In addition, more cases wi...

Breast cancer (BC) is not a typical manifestation of Lynch syndrome. The existence and extent excessive breast risk in carriers pathogenic mutations the syndrome-associated genes (MLH1, MSH2, MSH6, PMS2) remains an open question. In addition, it known that some neoplasms patients with this syndrome are causally linked to hereditary mutation, arise completely independently defect gene DNA mismat...

Over 200,000 American women will be newly diagnosed with breast or ovarian cancer in 2008, 90% with breast cancer. Over 40,000 of these women will die from their disease. Given these overwhelming statistics, early diagnosis and treatment of these cancers are imperative, as is prevention, particularly in those women who are at high risk. Approximately 5%–10% of breast and ovarian cancers are rel...

Breast cancer can be caused by germline mutations in several genes that are responsible for different hereditary cancer syndromes. Some of the genes causing the Fanconi anemia (FA) syndrome, such as BRCA2, BRIP1, PALB2, and RAD51C, are associated with high or moderate risk of developing breast cancer. Very recently, SLX4 has been established as a new FA gene raising the question of its implicat...

In this review we present an overview of recent developments in the management of hereditary ovarian cancer. Until recently, intensive screening of the ovaries was recommended to mutation carriers and their first-degree female relatives. However, since screening is not effective in detecting early-stage ovarian cancer, women are counselled for a prophylactic bilateral salpingo-oophorectomy (pBS...