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PURPOSE BRCA2 rearrangements are rare genetic events. A large BRCA2 genomic insertion was recurrently observed in our participants, and we sought to characterize it at the molecular and phenotypic level. PATIENTS AND METHODS We studied 210 high-risk breast/ovarian cancer families. Fifty-three probands were fully screened for BRCA1/2 mutations, and three(More)
The organization of respiratory chain complexes in supercomplexes has been shown in the mitochondria of several eukaryotes and in the cell membranes of some bacteria. These supercomplexes are suggested to be important for oxidative phosphorylation efficiency and to prevent the formation of reactive oxygen species. Here we describe, for the first time, the(More)
Only 20-25% of families screened for BRCA1/2 mutations are found positive. Because only a positive result is informative, we studied the role of BRCA1/2 immunohistochemistry as an additional method for patient selection. From 53 high-risk-affected probands, 18 (34%) had available paraffin blocks of their tumors and were selected for this study. Mutation(More)
We examined the in vitro development of human natural killer (NK) cells to define the earliest hematopoietic progenitors which could give rise to NK cells. Our data indicates that NK cells arise from the Thy 1+ subpopulations of CD34+ marrow cells. In cultures with IL2 we generated up to 96.5% NK cells from CD34+ Thy 1+ and in cultures with IL7, cells(More)
NK cells are lymphocytes which exhibit spontaneous cytotoxicity against a variety of target cells, including cancer cells. Mature NK and T cells may derive from a common precursor which differentiates into T or NK cells depending on the microenvironment. We evaluated the effect of human fetal thymic stroma on human CD34+Lin- progenitors. The culture medium(More)
Woody plants are particularly difficult to investigate due to high phenolic, resin, and tannin contents and laborious sample preparation. In particular, protein isolation from woody plants for two-dimensional gel electrophoresis (2-DE) is challenging as secondary metabolites negatively interfere with protein extraction and separation. In this study, three(More)
INTRODUCTION Leptomeningeal carcinomatosis is a rare metastatic event in gynecological neoplasias, and most cases occur in ovarian cancer. It is extremely infrequent in cervical cancer, and so far, there are not any reports of this complication in association with endometrial cancer. PATIENTS AND METHODS We report a case of leptomeningeal carcinomatosis(More)
Traditionally, BRCA genetic testing has been undertaken to identify patients and family members at future risk of developing cancer and patients have been referred for testing based on family history. However, the now recognised risk of ovarian cancer (OC) patients, even those with no known family history, harbouring a mutation in BRCA1/2, together with the(More)
We have examined the effects of Obstructive Sleep Apnea (OSA) on red blood cell (RBC) proteome variation at evening/morning day time to uncover new insights into OSA-induced RBC dysfunction that may lead to OSA manifestations. Dysregulated proteins mainly fall in the group of catalytic enzymes, stress response and redox regulators such as peroxiredoxin 2(More)