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865 results on '"Pandis N"'

154. Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer

Author

Håkansson S, Johannsson O, Johansson U, Sellberg G, Loman N, Anne-Marie Gerdes, Holmberg E, Dahl N, Pandis N, Kristoffersson U, Olsson H, and Borg A

Subjects
endocrine system diseases, skin and connective tissue diseases, Research Article
Abstract

Previous studies of high-risk breast cancer families have proposed that two major breast cancer-susceptibility genes, BRCA1 and BRCA2, may account for at least two-thirds of all hereditary breast cancer. We have screened index cases from 106 Scandinavian (mainly southern Swedish) breast cancer and breast-ovarian cancer families for germ-line mutations in all coding exons of the BRCA1 and BRCA2 genes, using the protein-truncation test, SSCP analysis, or direct sequencing. A total of 24 families exhibited 11 different BRCA1 mutations, whereas 11 different BRCA2 mutations were detected in 12 families, of which 3 contained cases of male breast cancer. One BRCA2 mutation, 4486delG, was found in two families of the present study and, in a separate study, also in breast tumors from three unrelated males with unknown family history, suggesting that at least one BRCA2 founder mutation exists in the Scandinavian population. We report 1 novel BRCA1 mutation, eight additional cases of 4 BRCA1 mutations described elsewhere, and 11 novel BRCA2 mutations (9 frameshift deletions and 2 nonsense mutations), of which all are predicted to cause premature truncation of the translated products. The relatively low frequency of BRCA1 and BRCA2 mutations in the present study could be explained by insufficient screening sensitivity to the location of mutations in uncharacterized regulatory regions, the analysis of phenocopies, or, most likely, within predisposed families, additional uncharacterized BRCA genes.

Published
1997

155. Chromosome abnormalities in colorectal adenomas: two cytogenetic subgroups characterized by deletion of 1p and numerical aberrations

Author

Lilian Bomme Ousager, Bardi, G., Pandis, N., Fenger, C., Kronborg, O., and Heim, S.

Subjects
Adenoma, Aged, 80 and over, Chromosome Aberrations, Male, Chromosome Disorders, Trisomy, Middle Aged, digestive system diseases, Cytogenetics, Chromosomes, Human, Pair 1, Karyotyping, Tumor Cells, Cultured, Humans, Female, sense organs, Chromosome Deletion, Colorectal Neoplasms, Aged, Chromosomes, Human, Pair 8
Abstract

Udgivelsesdato: 1996-Nov Cytogenetic analysis of short-term cultures from 34 benign colorectal polyps, all histologically verified as adenomas, revealed clonal chromosome aberrations in 21 of them. Eight polyps had structural rearrangements, whereas only numerical changes were found in 13. A combination of structural and numerical chromosomal aberrations was found in three polyps. The most common numerical change was gain of chromosome 7, found either as the sole anomaly (five polyps), together with other numerical changes (six polyps), or together with structural rearrangements (two polyps). Other recurrent numerical changes were +20, +13, and monosomy 18, found in six, five, and two adenomas, respectively. Rearrangement of chromosome 1 was the most common structural change. Abnormalities involving 1p were seen in six adenomas, leading to visible loss of material in three. One adenoma had one clone with a large and another with a small 1p deletion. In three adenomas, del(1)(p36) was the only cytogenetic aberration, supporting the authors' previous conclusion that loss of one or more gene loci in band 1p36 is a common early change in colorectal tumorigenesis. Chromosome 8 was involved in structural changes in two adenomas; in one this led to loss of 8p and in the other to gain of 8q. The cytogenetic findings did not correlate in a statistically significant manner with clinicopathologic parameters, such as grade of dysplasia, macroscopic or microscopic adenoma structure, tumor size and location, or the patients' sex and age.

Published
1996

181. Simulating the formation of carbonaceous aerosol in a European Megacity (Paris) during the MEGAPOLI summer and winter campaigns.

Author

Fountoukis, C., Megaritis, A. G., Skyllakou, K., Charalampidis, P. E., Denier van der Gon, H. A. C., Crippa, M., Prévôt, A. S. H., Freutel, F., Wiedensohler, A., Pilinis, C., and Pandis, N.

Subjects
CARBONACEOUS aerosols, ATMOSPHERIC chemistry, MASS spectrometers, SOOT, PARTICULATE matter, PUBLIC health
Abstract

We use a three dimensional regional chemical transport model (PMCAMx) with high grid resolution and high resolution emissions (4 km × 4 km) over the Paris greater area to simulate the formation of carbonaceous aerosol during a summer (July 2009) and a winter (January/February 2010) period as part of the MEGAPOLI (Megacities: Emissions, urban, regional, and Global Atmospheric POLlution and climate effects, and Integrated tools for assessment and mitigation) campaigns. Model predictions of carbonaceous aerosol are compared against Aerodyne aerosol mass spectrometer and black carbon (BC) high time resolution measurements from three ground sites. PMCAMx predicts BC concentrations reasonably well reproducing the majority (70 %) of the hourly data within a factor of two during both periods. The agreement for the summertime secondary organic aerosol (OA) concentrations is also encouraging (mean bias = 0.1 μg m-3) during a photochemically intense period. The model tends to underpredict the summertime primary OA concentrations in the Paris greater area (by approximately 0.8 μg m-3) mainly due to missing primary OA emissions from cooking activities. The total cooking emissions are estimated to be approximately 80 mg d-1 per capita and have a distinct diurnal profile in which 50 % of the daily cooking OA is emitted during lunch time (12:00-14:00 LT) and 20 % during dinner time (20:00-22:00 LT). Results also show a large underestimation of secondary OA in the Paris greater area during wintertime (mean bias = -2.3 μg m-3) pointing towards a secondary OA formation process during low photochemical activity periods that is not simulated in the model. [ABSTRACT FROM AUTHOR]

Published
2015
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186. Germ line BRCA1 & BRCA2 mutations in Greek breast/ovarian cancer families: 5382insC is the most frequent mutation observed

Author

Ladopoulou, A., primary, Kroupis, C., additional, Konstantopoulou, I., additional, Ioannidou-Mouzaka, L., additional, Schofield, A.C., additional, Pantazidis, A., additional, Armaou, S., additional, Tsiagas, I., additional, Lianidou, E., additional, Efstathiou, E., additional, Tsionou, C., additional, Panopoulos, C., additional, Mihalatos, M., additional, Nasioulas, G., additional, Skarlos, D., additional, Haites, N.E., additional, Fountzilas, G., additional, Pandis, N., additional, and Yannoukakos, D., additional

Published
2002
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191. Deletions of 3p in breast tumors

Author

Pandis, N., primary, Dietrich, C., additional, Petersson, C., additional, Teixeira, M., additional, Bardi, G., additional, Mitelman, F., additional, and Heim, S., additional

Published
1996
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