Current Women's Health Reviews - Volume 8, Issue 1, 2012

As Dr Russo and Dr Federico mentioned in their Editorial of this issue, breast cancer is the most common malignant tumor among women with approximately one million new cases per year worldwide. Disparities on the incidence of breast cancer among the rich and poor countries are still not fully understood. As Dr Awadelkarim and colleagues mentioned in their article, breast cancer incidence is lower in middle and low in Read More

Breast and Ovarian Cancer: The Power of Genome-Wide Association Studies Breast cancer (BC) is the most common malignant tumor among women with approximately one million new cases per year worldwide. One of the main risk factors for breast cancer is family history, suggesting that genetic factors are important determinants of disease risk. Familial germline mutations are considered responsible for 5% of all bre Read More

Full sequence analysis of the BRCA1 and BRCA2 (BRCA1/2) tumour suppressor genes was introduced more than ten years ago. Unfortunately, a large number of non hot spot regions have been identified and the DNA sequence changes, resulting in an increased risk of developing breast and ovarian cancer, can occur throughout the entire length of the coding regions of these genes, leading to the necessity to perform highly Read More

Since the discovery of the familial breast cancer susceptibility genes BRCA1 and BRCA2, genetic counseling and molecular analysis in the identification of mutations responsible for the increased risk of breast and ovarian cancer have become crucial steps in the clinical practice. In fact, the identification of pathogenic BRCA1/2 mutations provides useful information about the risk of a second cancer in the proband, the po Read More

A large number of cancer predisposing BRCA1/BRCA2 mutations have been reported, with a wide variety among populations. In some restricted groups, specific germline mutations in these tumor suppressor genes have been found with high predominance, due to a founder effect. We focused our review on the Italian founder mutations. The first Italian BRCA1 founder mutation, 5083del19, was found in Calabria: the pre Read More

A heterogeneous phenotype for age of onset, for cancer development and for cancer spectrum, i.e. different penetrance, has been reported among individuals from families with an identified germline mutation in BRCA1 and BRCA2 genes. Genetic as well as non genetic factors could explain this variation in phenotype. Among genetic causes the type and position of the mutation, allelic variations as well as mutation in Read More

Genetic screening of BRCA1 and BRCA2 genes is a recurrent practice in laboratories for counseling. In the last ∼20 years, investigators have identified mutations with a founder effect, but also a series of private variants. Multi-component models have been developed to understand if a variant is deleterious or neutral. However, these models are not sufficient to understand the roles of UVs. In this review, we report result Read More

The need to answer the question “how much of the familial risk is currently explained by the known genes?” has increased ,and although BRCA1 and BRCA2 are considered the two major breast cancer (BC) susceptibility genes, they do not justify the entire percentage of all hereditary BC cases. The current consensus is that other BC predisposing genes could explain at least a portion of the remaining non-mutated familial Read More

Little is known about breast cancer in Sub-Saharan Africa, where the incidence of this neoplasm is estimated to be lower than in developed countries. Yet, as a result of several factors, among which demographic structures, lifestyle, reproductive, environmental and socio-economic factors, including traditional beliefs, and access to diagnostic facilities and medical care, the majority of the patients present with locally Read More

Male breast cancer (MBC) is a rare disease compared with female breast cancer (FBC), but its incidence is increasing. Because of its rarity, MBC is often compared with FBC and our current understanding regarding MBC biology, natural history and treatment strategies has been largely extrapolated from the female counterpart. Based on age-frequency distribution, age-specific incidence rate patterns and prognostic fac Read More

Germline mutations in the tumor suppressor genes BRCA1 and BRCA2 predispose to familial breast and/or ovarian cancer. The lifetime risk of members of families with genetic predisposition depends on the mutations of susceptibility genes. BRCA1 mutations seem to confer the highest risk of developing neoplastic diseases. Apart from breast and ovarian cancer mutations in BRCA, related pathways are supposed to confer a Read More

The aim of this review is to identify the evidence for the surveillance of women at high risk of breast cancer with the different modalities. The definition of high risk refers to the subpopulation of women with a family history of breast cancer, including both those with and without identified genetic mutations. The following topic has been evaluated: clinical breast examination (CBE), mammography, ultrasound and MRI accur Read More

The prospects for making a vast impact on the morbidity and mortality from breast cancer lie more likely in the area of chemoprevention. Tamoxifen was the first agent considered in a preventive setting. Different studies analyzed the role of tamoxifen in prevention and, although the first results were apparently contradictory, they showed notable reductions in breast cancer. In the same period, in the MORE trial, ralox Read More

Women with BRCA1/2 mutations are at increased risk of developing breast and ovarian cancer. Options to manage this risk are intensive surveillance, chemoprevention, and risk-reducing surgery which includes, risk reduction mastectomy (bilateral or contralateral) and risk reduction salpingo-oophorectomy. Here we reported an overview of the current literature regarding efficacy of risk-reduction surgery, its accepta Read More

The identification of BRCA1 and BRCA2 genes has led to the understanding of the molecular basis of the Hereditary Breast and Ovarian Cancer Syndromes and to the development of preventive strategies by the identification of individuals carriers of pathogenic germ-line mutations. In the last few years the study of the complex molecular scenario of breast and ovarian tumors arising in the BRCA1 and 2 setting has opened Read More