E pidemiological data suggest that 7% of breast cancer cases and 10% of ovarian cancer cases in the general population are attributable to one or more autosomal dominant susceptibility alleles. The breast and ovarian cancer susceptibility genes BRCA1 and BRCA2 were isolated in 1994 and 1995, 4 respectively, and since then, a large volume of literature attests to the involvement of these genes i...

GT198, located 470 kb downstream of BRCA1, encodes for the nuclear PSMC3-interacting protein, which functions as co-activator of steroid hormone-mediated gene expression, and is involved in RAD51 and DMC1-mediated homologous recombination during DNA repair of double-strand breaks. Recently, germline variants in GT198 have been identified in hereditary breast and ovarian cancer (HBOC) patients, ...

DNA methylation can mimic the effects of both germline and somatic mutations for cancer predisposition genes such as BRCA1 and p16INK4a. Constitutional DNA methylation of the BRCA1 promoter has been well described and is associated with an increased risk of early-onset breast cancers that have BRCA1-mutation associated histological features. The role of methylation in the context of other breas...

BACKGROUND BRCA1 and BRCA2 are the two major susceptibility genes involved in hereditary breast cancer. This study was undertaken to provide reliable population-based estimates of genetic influence and to characterize the nature and prevalence of BRCA1 and BRCA2 germline mutations in early-onset breast cancer. METHODS In a series comprising all women diagnosed with breast cancer under the age...

Relatives of postmenopausal breast cancer patients have a greater risk of breast cancer than do women with no family history of the disease. However, no study has previously examined the contribution of other breast cancer risk factors to risk in these relatives, thus precluding the ability to discern between shared environment or genes as the cause of familial aggregation. We conducted a neste...

background breast cancer is the most common malignancy in women around the world so finding new biomarkers for early detection and also study on molecular aspects of breast cancer is valuable. cancer testis genes are a group of genes expressed solely in testis and in a range of human malignancies. objectives in this study we determined the expression of cancer testis genes tsga10, tex101 and od...

Based on epidemiological data we can assume that at least some malignant melanoma (MM) and breast cancer cases can be caused by the same genetic factors. CDKN2A, which encodes the p16 protein, a cyclin-dependent kinase inhibitor suppressing cell proliferation, is regarded as a major melanoma susceptibility gene and the literature has also implicated this gene in predisposition to breast cancer....