Our findings, using the largest gene panel for MBC patients so far, indicate that BRCA testing should be the primary concern for MBC patients. Until sufficient evidence arises from larger studies, multiple-gene panels may be of limited benefit for MBC and their families, at least for MBC patients of specific descent.

Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder causing benign tumors in the brain and other vital organs. The genes implicated in disease development are TSC1 and TSC2. Here, we have performed mutational analysis followed by a genotype-phenotype correlation study based on the clinical characteristics of the affected individuals. Twenty unrelated probands or families from Greece have been analyzed, of whom 13 had definite TSC, whereas another 7 had a possible TSC diagnosis. Using direct sequencing, we have identified pathogenic mutations in 13 patients/families (6 in TSC1 and 7 in TSC2), 5 of which were novel. The mutation identification rate for patients with definite TSC was 85%, but only 29% for the ones with a possible TSC diagnosis. Multiplex ligation-dependent probe amplification (MLPA) did not reveal any genomic rearrangements in TSC1 and TSC2 in the samples with no mutations identified. In general, TSC2 disease was more severe than TSC1, with more subependymal giant cell astrocytomas and angiomyolipomas, higher incidence of pharmacoresistant epileptic seizures, and more severe neuropsychiatric disorders. To our knowledge, this is the first comprehensive TSC1 and TSC2 mutational analysis carried out in TSC patients in Greece.

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We have undertaken a large population screening study to identify the molecular basis of hemoglobinopathies in the central Greece region. A total of 845 unrelated b-thalassemia patients and a-, b-, and db-thalassemia carriers have been recruited and screened for mutations in the a-and b-globin gene clusters. The a -MED deletion and the Turkish inversion/deletion are the most frequent genetic rearrangements leading to a-and db-thalassemia respectively, contrary to the situation in the rest of the country, while the b À101 (C>T) promoter mutation is surprisingly frequent in the central part of Greece. Our data indicate that determination of mutation frequencies in different regions is vital for accurate provision of genetic services and counseling and for precise estimation of genetic diversity. Am. J. Hematol. 82:634-636, 2007. V V C 2007 Wiley-Liss, Inc.

Halcinonide-neomycin-amphotericin (HNA) cream was evaluated in the treatment of cutaneous candidiasis and inflammatory dermatoses. The anti-candidal properties of HNA were assessed in a parallel comparison with iodochlorhydroxyquin-hydrocortisone (I-HC) as the control drug. The overall therapeutic response with HNA was excellent in 38 (95%) of 40 patients as compared to 17 (43%) of 40 treated with I-HC. In 50 patients treated for psoriasis, eczematous dermatitis, or neurodermatitis, HNA was evaluated in a paired comparison with hydrocortisone (HC). The overall therapeutic response with HNA was excellent in 36 (72%) patients as compared to 18 (36%) with HC. There were no adverse reactions with HNA or the control drugs.