AIMS BRCA1 gene mutations have been extensively studied in relation to breast and ovarian cancer susceptibility. Various genotype-phenotype correlation attempts have yielded important data pertaining to the consequences of BRCA1 mutations. However, little is known about the effects of recurrent BRCA mutations on expressivity and the age of onset of cancer in a population. This study addresses w...

BRCA1 acts as a tumour suppressor and germ-line mutations within this gene are found in a large proportion of families with breast cancer. The aim of our study was to unravel the mechanism of action of genistein, the major soy phytoestrogen, in BRCA1-mutant human breast cancer cell lines. Four breast cancer cell lines were studied for their response to genistein, three of them harbouring differ...

The association of germline mutations in the breast cancer susceptibility gene 1 (BRCA1) and the breast cancer susceptibility gene 2 (BRCA2) with the development of breast and ovarian cancers have been widely researched and recognised. It is known that these genes function at multiple sites in the body. Research has subsequently evolved into the connection of BRCA1/2 with cancers at other sites...

Founder mutations can account for a large proportion of BRCA1/BRCA2 gene abnormalities in a given population. However there is still a need to study the entire gene in many families, even in countries where founder mutations have been identified. It is possible to decrease the number of cases which are studied by complex and expensive sequencing/Southern blot analyses of BRCA1/BRCA2 genes by ex...

Mutations in two major genes, BRCA1 and BRCA2, account for up to 30% of families with hereditary breast cancer. Unfortunately, in most families there is little to indicate which gene should be targeted first for mutation screening, which is labor intensive, time consuming and often prohibitively expensive. As BRCA1 is a tumor suppressor gene involved in various cellular processes, heterozygous ...

BRCA1, a breast and ovarian cancer susceptibility gene, has been implicated in gene regulation. Previous studies demonstrate that BRCA1 induces GADD45, a p53-regulated and stress-inducible gene that plays an important role in cellular response to DNA damage. However, the mechanism(s) by which BRCA1 regulates GADD45 remains unclear. In this report, we have shown that BRCA1 activation of the GADD...

INTRODUCTION Pancreatic cancer belongs to carcinomas associated with poor prognosis and low survival rate. It has been highlighted that the cancer risk is linked to both environmental and genetic factors. Available studies allow to estimate that genetic factors play a role in 5-10% of patients with pancreatic cancer. Beside other carcinomas, pancreatic cancer occurs in hereditary neoplastic syn...

With the discovery of the BRCA1 gene and other genetic mutations associated with breast cancer, it has been established that hereditary mutations account for up to 5% of patients presenting with breast cancer. We performed a systematic review of English Language Literature to determine the role of BRCA1 and BRCA2 gene mutations in African breast cancer patients. PUBMED and AJOL database were se...

The breast/ovarian cancer susceptibility proteins BRCA1 and BRCA2 maintain genome stability, at least in part, through a functional role in DNA damage repair. They both colocalize with RAD51 at sites of DNA damage/replication and activate RAD51-mediated homologous recombination repair of DNA double-strand breaks (DSB). Whereas BRCA2 interacts directly with and regulates RAD51, the role of BRCA1...

BRCA1 is a susceptibility gene for breast and ovarian cancer with growth-inhibitory activity for which the mechanism of action remains unclear. When introduced into cells, BRCA1 inhibits growth of some but not all cell lines. In an attempt to uncover the mechanism of growth suppression by BRCA1, we examined a panel of cell lines for their ability to reduce colony outgrowth in response to BRCA1 ...