Research Topics
Genomes and GenesSpecies | Wael M Abdel-RahmanSummaryAffiliation: University of Helsinki Country: Finland Publications
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Detail Information
Publications
The genetics of HNPCC: application to diagnosis and screeningWael M Abdel-Rahman
Department of Medical Genetics, University of Helsinki, Helsinki, Finland
Crit Rev Oncol Hematol 58:208-20. 2006..This subset of tumors is the focus of current clinical and molecular research. This review addresses recent advances in the field of HNPCC research and their applications in the management of affected individuals and families...
Somatic FGF9 mutations in colorectal and endometrial carcinomas associated with membranous beta-cateninWael M Abdel-Rahman
Department of Medical Genetics, University of Helsinki, Helsinki, Finland
Hum Mutat 29:390-7. 2008..These data suggest that FGF9 plays a role in colorectal and endometrial carcinogenesis...- Restoring mismatch repair does not stop the formation of reciprocal translocations in the colon cancer cell line HCA7 but further destabilizes chromosome numberWael M Abdel-Rahman
Department of Medical Genetics, Helsinki University, Helsinki, Finland
Oncogene 24:706-13. 2005..Thus, the accumulating data suggest that MMR defect may not be necessary for the development of reciprocal chromosomal translocations but might be permissive... - Comprehensive characterization of HNPCC-related colorectal cancers reveals striking molecular features in families with no germline mismatch repair gene mutationsWael M Abdel-Rahman
Department of Medical Genetics, University of Helsinki, Helsinki, Finland
Oncogene 24:1542-51. 2005..This feature distinguishes the MMR gene mutation negative families from both HNPCC families linked to MMR defects and sporadic cases, suggesting the involvement of novel predisposition genes and pathways in such families... - HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1Tiina E Raevaara
Department of Biosciences, Division of Genetics, University of Helsinki, Helsinki, Finland
Genes Chromosomes Cancer 40:261-5. 2004.... - Altered expression of MLH1, MSH2, and MSH6 in predisposition to hereditary nonpolyposis colorectal cancerElise Renkonen
Department of Medical Genetics, University of Helsinki, Helsinki, Finland
J Clin Oncol 21:3629-37. 2003.... - Molecular analysis of familial endometrial carcinoma: a manifestation of hereditary nonpolyposis colorectal cancer or a separate syndrome?Miina Ollikainen
Department of Medical Genetics, University of Helsinki, Helsinki, Finland
J Clin Oncol 23:4609-16. 2005..Clustering of EC alone, termed as familial site-specific EC, may constitute a separate entity. Because its genetic basis is unknown, our purpose was to characterize such families molecularly... - Epigenetic signatures of familial cancer are characteristic of tumor type and family categoryEmmi I Joensuu
Department of Medical Genetics, University of Helsinki, Finland
Cancer Res 68:4597-605. 2008..Paired normal tissues or blood displayed negligible methylation arguing against a constitutional methylation abnormality in familial cases... - APC and beta-catenin protein expression patterns in HNPCC-related endometrial and colorectal cancersReetta Kariola
Department of Biological and Environmental Sciences, Genetics, University of Helsinki, Viikinkaari 5, 00014 Helsinki, Finland
Fam Cancer 4:187-90. 2005..In accordance with studies on sporadic cancers, abnormal accumulation of beta-catenin protein in nuclei occurred much less frequently in HNPCC-related ECs than CRCs, which may reflect organ-specific differences in their pathogenesis... - Patterns of PIK3CA alterations in familial colorectal and endometrial carcinomaMiina Ollikainen
Department of Medical Genetics, University of Helsinki, Helsinki, Finland
Int J Cancer 121:915-20. 2007..PIK3CA alterations frequently coexisted with PTEN or KRAS changes. Combined with published studies on sporadic tumors, our data broaden the understanding of the role for PI3K pathway genes in human tumorigenesis... - Distinct genetic and epigenetic signatures of colorectal cancers according to ethnic originTaina T Nieminen
Department of Medical Genetics, University of Helsinki, Helsinki, Finland
Cancer Epidemiol Biomarkers Prev 21:202-11. 2012..The outcome of colorectal cancer varies depending on ethnic origin. Egyptian colorectal carcinoma is surprisingly young-age disease with high proportion of rectal and advanced stage cancers... - Truncation of MBD4 predisposes to reciprocal chromosomal translocations and alters the response to therapeutic agents in colon cancer cellsWael M Abdel-Rahman
Department of Medical Genetics, University of Helsinki, Helsinki, Finland
DNA Repair (Amst) 7:321-8. 2008..We also show that over-expression of MBD4(tru) in DLD1 alters the colony survival after exposure to cisplatin or etoposide. These data suggest a wide role for MBD4 in DNA damage response and maintaining chromosomal stability... - Pathogenicity of the hereditary colorectal cancer mutation hMLH1 del616 linked to shortage of the functional proteinTiina E Raevaara
Division of Genetics, Department of Biosciences, University of Helsinki, Helsinki, Finland
Gastroenterology 125:501-9. 2003..CONCLUSIONS: Our results suggest that the pathogenicity of hMLH1 del616 is not linked to nonfunctionality, but to shortage of the functional protein... - Adenomatous polyposis families that screen APC mutation-negative by conventional methods are genetically heterogeneousElise T Renkonen
Department of Medical Genetics, Institute of Dentistry, Biomedicum Helsinki, PO Box 63 (Haartmaninkatu 8, FIN-00014 University of Helsinki, Helsinki, Finland
J Clin Oncol 23:5651-9. 2005..Significant differences were observed in clinical manifestations between subgroups, emphasizing the importance of accurate genetic and clinical characterization for the proper management of such families... - Cutaneous T-cell lymphoma-associated lung cancers show chromosomal aberrations differing from primary lung cancerSonja Hahtola
Department of Dermatology and Allergology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland
Genes Chromosomes Cancer 47:107-17. 2008..These preliminary observations warrant further prospective studies to identify the common underlying factors between CTCL and CTCL-associated lung cancer... - Molecular analysis of endometrial tumorigenesis: importance of complex hyperplasia regardless of atypiaTaina T Nieminen
Department of Medical Genetics, University of Helsinki, Helsinki, Finland
Clin Cancer Res 15:5772-83. 2009..We characterized precursor lesions of endometrioid EC to identify markers of malignant transformation and tumor progression... 
Breast carcinoma and Lynch syndrome: molecular analysis of tumors arising in mutation carriers, non-carriers, and sporadic casesJohanna E Lotsari
Department of Medical Genetics, Biomedicum Helsinki, P, O, Box 63 Haartmaninkatu 8, University of Helsinki, Helsinki, Finland, FIN 00014
Breast Cancer Res 14:R90. 2012..This study aimed to settle the question as to whether breast carcinoma belongs to the LS tumor spectrum...- Clinicopathological characterization and genomic aberrations in subcutaneous panniculitis-like T-cell lymphomaSonja Hahtola
Department of Dermatology and Allergology, Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland
J Invest Dermatol 128:2304-9. 2008.... - Molecular basis and diagnostics of hereditary colorectal cancersWael M Abdel-Rahman
Department of Medical Genetics, University of Helsinki, Helsinki, Finland
Ann Med 36:379-88. 2004..This review addresses the molecular basis of these syndromes with particular reference to the recent advances in this rapidly progressive field and the applications of such knowledge in diagnosis and management... - Mutations of beta-catenin and KRAS in colorectal carcinomasWael M Abdel-Rahman
Dig Dis Sci 51:616-7. 2006 - Multiple reciprocal translocations in carcinomasWael M Abdel-Rahman
Cancer Genet Cytogenet 158:194-5. 2005