127 Greek breast/ovarian cancer families were screened for germline BRCA1/2 mutations by dHPLC followed by direct sequencing. Our results indicated 16 and 5 breast/ovarian cancer families bearing deleterious mutations in the BRCA1 and BRCA2 genes, respectively. Two novel BRCA2 germline mutations (G4X and 3783del10) are reported here for the first time. Subsequent compilation of our present findings with previously reported mutation data reveals that in a total of 287 Greek breast/ovarian cancer families, 46 and 13 carry a deleterious mutation in BRCA1 and BRCA2, respectively. It should be noted that two BRCA1 mutations, 5382insC and G1738R, both located in exon 20, account for 46% of the families found to carry a mutation. Based on our mutation analysis results, we propose here a hierarchical, cost-effective BRCA1/2 mutation screening protocol for individuals of Greek ethnic origin. The suggested protocol can impact on the clinical management of breast-ovarian cancer families on a national healthcare system level.
Tibolone was effective in the treatment of climacteric symptoms and well tolerated in a group of 52 women with a history of breast cancer. The cancer recurrence rate in the tibolone group was comparable to that of untreated controls. It should be noted that the limitations of the study design and the small number of events preclude any definitive conclusions about the effects of tibolone on breast cancer recurrence in general clinical practice. There were no breast-related adverse effects, and overall safety and tolerance were similar to those of the general population of postmenopausal women treated with tibolone.
Patients seeking alternatives to hormone replacement are increasingly using non-prescription phytoestrogen supplements. The potential of these herbal remedies to prevent bone loss, heart disease, menopausal symptoms or breast cancer has been a focus of attention in scientific and lay literature. It is important to understand the effects of phytoestrogens, particularly whether excess exposure can promote hyperplasia or neoplasia of breast tissue. We report the case of a man diagnosed with breast cancer whose history was notable for extensive use of supplemental phytoestrogens and the absence of family history of breast cancer or BRCA1/BRCA2 mutation. In conclusion, breast tissue effects of phytoestrogens remain unclear. The increasing popularity and availability of phytoestrogen dietary supplements necessitates additional research in order to counsel patients regarding their safety and efficacy.
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