The surgical option which should be reserved for patients with BRCA1/2 mutation and breast cancer diagnosis is still debated. Several aspects should be considered before the surgical decision-making: the risk of ipsilateral breast recurrence (IBR), the risk of contralateral breast cancer (CBC), the potential survival benefit of prophylactic mastectomy, and the possible risk factors that could e...

Downloa cer chemotherapy exploits limitations in repairing DNA damage in order to kill proliferating nant cells. Recent evidence suggests that cancers within and across tissue types have specific defects A repair pathways, and that these defects may predispose for sensitivity and resistance to various s of cytotoxic agents. Poly (ADP-ribose) polymerase (PARP) and BRCA proteins are central to th...

BACKGROUND Triple negative breast cancer (TNBC) is a highly heterogeneous and aggressive disease, and although no effective targeted therapies are available to date, about one-third of patients with TNBC achieve pathologic complete response (pCR) from standard-of-care anthracycline/taxane (ACT) chemotherapy. The heterogeneity of these tumors, however, has hindered the discovery of effective bio...

Leptomeningeal carcinomatosis from pancreatic cancer is a rare finding thought to occur late in the natural history of the disease. Here we present two cases of leptomeningeal carcinomatosis from BRCA mutation-associated pancreatic cancer including one patient in whom it developed during treatment with a PARP-inhibitor. We review the literature and discuss the possibility that BRCA-associated p...

Ovarian cancer is one of the most common gynaecological neoplasms, especially in industrialised countries. The aetiology of the disease is not well understood, except that inherited mutations in the breast cancer genes BRCA-1 and BRCA-2 account for up to 10% of all cases, and child-bearing, oral contraceptive use and breast-feeding reduce the risk. Some environmental exposures, notably talc and...

Cisplatin resistance occurs, at least in part, through the function of the Fanconi anemia (FA)/BRCA pathway, a DNA-damage response pathway required for repair of cisplatin cross-links. In the current study, we designed a cell-based screening strategy to identify small-molecule inhibitors of the FA/BRCA pathway with the hypothesis that such molecules could restore sensitivity to platinum agents....

Prophylactic mastectomy to reduce the risk of developing breast cancer in the presence of a BRCA mutation has been available for many years. Yet, immediately after Angelina Jolie’s announcement of her decision to undergo a bilateral prophylactic mastectomy, the level of women’s interest in genetic testing and/or preventive surgical intervention soared incredibly as witnessed by the increased nu...

Women with mutations in the breast cancer genes BRCA1 or BRCA2 have an increased lifetime risk of developing breast, ovarian and other BRCA-associated cancers. However, the number of detected germline mutations in families with hereditary breast and ovarian cancer (HBOC) syndrome is lower than expected based upon genetic linkage data. Undetected deleterious mutations in the BRCA genes in some h...

This paper highlights the need for carriers to be followed up by health professionals who understand the complexities of the BRCA syndrome. A BRCA carrier clinic has been established in London and regular follow up is an essential part of the care for families. An open door policy has been set up for patients who may meet or telephone the cancer genetic nurse specialist for support and care at ...