1,721,117 research outputs found
NM23.H1 loss of heterozygosity in human mammary carcinomas. Definition of a deletion map on chromosome 17q.
No full textThe progestin ORG2058 but not retinoic acid stimulates BRCA1 mRNA expression in MCF-7 human breast cancer cells.
No full textBRCA1 has been characterized as one of the major breast cancer susceptibility genes. Although no BRCA1 mutations have been reported in sporadic breast cancer, altered levels of BRCA1 are found in non hereditary breast malignant lesions. Therefore, BRCA1 is potentially playing a key role in the genesis of breast cancer. In this study, we explored the effects of estradiol and two differentiating agents, the progestin ORG2058 and retinoic acid, on BRCA1 mRNA expression in human estrogen and progesterone receptor positive MCF-7 cells. Using RNAse protection assay, we have demonstrated that ORG2058 induces a major (50 times) stimulation of BRCA1 mRNA expression. The maximum induction effect was obtained at the pharmacological dose of 100 nM and after 48 h of treatment. While estradiol generated an expected increase of BRCA1 mRNA, retinoic acid did not produce any effects. Our results demonstrate for the first time that BRCA1 is specifically up-regulated by a progestin, a steroid known to induce the differentiation of epithelial mammary cells. The absence of retinoic acid effect suggests that a specific progesterone-dependent pathway, could control BRCA1 expression
Ancient nucleic acid in human organic remains from S. Domenico Maggiore Abbey mummies in Naples, Italy (XV-XVI centuries)
No full textDown regulation of NM23.H1, NM23.H2 and c-myc genes during differentiation induced by 1,25 dihydroxyvitamin D3.
No full textPaternity in 5α-Reductase-2 Deficiency: Report of Two Brothers with Spontaneous or Assisted Fertility and Literature Review.
No full textAbstract
Fertility remains a challenge for men with 5α-reductase-2 deficiency. Such a diagnosis was made in 2 adult brothers who are compound heterozygous for the 5α-reductase type 2 gene (SRD5A2; c.308G>C; c.689A>C). They were born with ambiguous genitalia and the male sex was assigned. Both brothers underwent reconstructive genital surgery during pediatric age and had spontaneous virilization at puberty. The older brother experienced natural conception, while the younger had a son by assisted reproductive technology. Other family members were demonstrated to be compound heterozygous or heterozygous for the same genetic variants. The older brother is the third man with 5α-reductase-2 deficiency and spontaneous paternity. The little series of men with 5α-reductase-2 deficiency and documented spontaneous or assisted paternity is reviewed. In conclusion, the possibility of fatherhood is a main indication for male sex assignment in patients with 5α-reductase-2 deficiency.
© 2019 S. Karger AG, Basel
Lactoferrin expression in human breast cancer.
No full textWe analyzed lactoferrin expression in 78 samples from patients with sporadic breast cancer and found 31/78 negative for mRNA expression. Similar results were obtained by immuno-histochemical localization of the lactoferrin protein. We did not find relationship between lactoferrin expression and clinical parameters. We investigated for the absent lactoferrin expression in some cases of breast cancer. In 68 of the samples analyzed, we found an inverse correlation between estrogen receptor expression and lactoferrin expression (P < 0,0001), thus indicating that regulation by the estrogen receptor is not the main element responsible for the expression of lactoferrin in breast cancer. Analysis of methylation of the lactoferrin genomic DNA extracted from the same patients revealed that the degree of methylation does not explain the observed absence of lactoferrin. The 937 bp lactoferrin promoter was investigated for possible mutations. By single-strand conformation polymorphism analysis one polymorphic site was found and characterized
Microsatellite instability and allelic losses in neuroendocrine tumors of the gastro-entero-pancreatic system
No full textA region on the long arm of chromosome 16 is frequently deleted in metastatic node-negative breast cancer.
No full text
Germline mutations of the BRICA1-associated ring domain (BARD1) gene in breast and breast/ovarian families negative for BRCA1 and BRCA2 alterations
No full textBARD1 (BRCA1-associated RING domain) was identified by yeast two-hybrid screening as a protein interacting with BRCA1. Somatic and germline mutations of BARD1 have been detected in sporadic breast, ovarian, and endometrial cancers. The present study represents the first description of BARD1 germline mutations in hereditary breast and breast/ovarian cancer patients. We analyzed the BARD1 gene in 40 families with hereditary breast and breast/ovarian cancer, tested negative for BRCA1 and BRCA2 mutations. A mutational analysis by PCR-SSCP on the coding region and the exon-intron splice boundaries of the BARD1 gene yielded four different germline mutations. A group of 20 patients diagnosed with sporadic breast cancer below the age of 40 was also examined and only one germline mutation was found. A study of loss of heterozygosity at the BARD1 locus in neoplastic tissues from patients with BARD1 germline mutations was carried out. In all cases, we were unable to find any evidence for allelic deletions. The involvement of BARD1 mutations in the susceptibility to hereditary breast and breast/ovarian cancer is discussed. (C) 2002 Wiley-Liss, Inc
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