Genomes and Genes
- Identification of ins(8;21) with AML1/ETO fusion in acute myelogenous leukemia M2 by molecular cytogeneticsM Urioste
Departamento de Genetica Humana, Programa de Patologia Molecular, Centro Nacional de Investigaciones Oncologicas, Instituto de Salud Carlos III, Madrid, Spain
Cancer Genet Cytogenet 133:83-6. 2002..The use of other FISH probes (CEP8, c-myc and TEL21) and spectral karyotyping indicated that AML1/ETO fusion occurred as a consequence of a previously undescribed ins(8;21)(q22;q22.1q22.3)...
- Complex cytogenetic abnormalities including telomeric associations and MEN1 mutation in a pediatric ependymomaM Urioste
Departamento de Genetica Humana, Programa de Patologia Molecular, Centro Nacional de Investigaciones Oncologicas CNIO, Instituto de Salud Carlos III, Ctra Majadahonda Pozuelo, Km 2, 28220 Majadahonda, Madrid, Spain
Cancer Genet Cytogenet 138:107-10. 2002..The chromosomal instability produced by the telomeric alterations and the mutation in the MEN1 gene could be important events in the tumorigenesis of ependymomas...
- Malignant degeneration of presacral teratoma in the Currarino anomalyMiguel Urioste
Department of Human Genetics, Centro Nacional de Investigaciones Oncologicas, Madrid, Spain
Am J Med Genet A 128:299-304. 2004....
- Evaluation of the BRCA1 interacting genes RAP80 and CCDC98 in familial breast cancer susceptibilityAna Osorio
Group of Human Genetics, Human Cancer Genetics Programme, C Melchor Fernandez Almagro 3, Madrid, 28029, Spain
Breast Cancer Res Treat 113:371-6. 2009..Our analysis suggests that RAP80 and CCDC98 do not play an important role as high penetrance breast cancer susceptibility genes...
- About the origin and development of hereditary conventional renal cell carcinoma in a four-generation t(3;8)(p14.1;q24.23) familyLaura Valle
Department of Human Genetics, Spanish National Cancer Centre, Madrid, Spain
Eur J Hum Genet 13:570-8. 2005..We have not found new candidate regions along 3p by using a 1-Mb resolution array-based CGH. (4) The tumorigenesis mechanism of a second gastric tumor developed in the probandus is different from that of CRCC...
- Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer familiesMaria J Garcia
Group of Human Genetics, Human Cancer Genetics Program, Spanish National Cancer Centre, CNIO, Madrid, Spain
Breast Cancer Res Treat 113:545-51. 2009....
- Analysis of myelodysplastic syndromes with complex karyotypes by high-resolution comparative genomic hybridization and subtelomeric CGH arrayAngel Martinez-Ramirez
Department of Human Genetics, Spanish National Cancer Centre CNIO, Madrid, Spain
Genes Chromosomes Cancer 42:287-98. 2005..3 and 19p13.3 were detected by HR-CGH. Array CGH analysis of the subtelomeric regions in some samples was able to confirm a number of these alterations and found some additional alterations not detected by conventional CGH...
- Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriersRoger L Milne
Grupo de Epidemiología Genética y Molecular, Programa de Genética del Cáncer Humano, Centro Nacional de Investigaciones Oncologicas CNIO, C Melchor Fernández Almagro, Madrid, Spain
Breast Cancer Res Treat 119:221-32. 2010..Whether later age at first birth is also protective for ovarian cancer in mutation carriers requires further confirmation...
- Cloning of a new familial t(3;8) translocation associated with conventional renal cell carcinoma reveals a 5 kb microdeletion and no gene involved in the rearrangementSandra Rodriguez-Perales
Cytogenetics Unit, Biotechnology Programme, Centro Nacional de Investigaciones Oncologicas, Madrid, 28029, Spain
Hum Mol Genet 13:983-90. 2004....
- Molecular cytogenetic characterization of rhabdomyosarcoma cell linesSandra Rodriguez-Perales
Cytogenetics Unit, Department of Human Genetics, Centro Nacional de Investigaciones Oncologicas, C Melchor Fernandez Almagro 3, 28029 Madrid, Spain
Cancer Genet Cytogenet 148:35-43. 2004....
- The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in SpainRoger L Milne
Unidad de Genotipación CEGEN and Grupo de Genética Humana, Programa de Genética del Cáncer Humano, Centro Nacional de Investigaciones Oncologicas, Madrid, Spain
Clin Cancer Res 14:2861-9. 2008..We aimed to estimate these penetrances for women attending genetic counseling units in Spain...
- Cytogenetic profile of myelodysplastic syndromes with complex karyotypes: an analysis using spectral karyotypingAngel Martinez-Ramirez
Department of Human Genetics, Spanish National Cancer Centre, Melchor Fernandez Almagro 3, 28029 Madrid, Spain
Cancer Genet Cytogenet 153:39-47. 2004..Fluorescence in situ hybridization analysis showed amplification of genes previously identified in myeloid and/or hematological processes, such as HER2neu, MLL, and AML1, which could represent frequent events in MDS with CK...
- Shorter telomere length is associated with increased ovarian cancer risk in both familial and sporadic casesBeatriz Martinez-Delgado
Human Genetics Group, Spanish National Cancer Research Centre CNIO, Madrid, Spain
J Med Genet 49:341-4. 2012..The present study analysed TL in peripheral blood leucocytes of hereditary and sporadic ovarian cancer cases, as well as in female controls, to evaluate whether TL contributes to ovarian cancer risk...
- Genetic anticipation is associated with telomere shortening in hereditary breast cancerBeatriz Martinez-Delgado
Human Genetics Group, Spanish National Cancer Research Centre CNIO, Madrid, Spain
PLoS Genet 7:e1002182. 2011..Our results provide evidence that telomere shortening is associated with earlier age of cancer onset in successive generations, suggesting that it might be a mechanism of genetic anticipation in hereditary breast cancer...
- Genetic characterization and structural analysis of VHL Spanish families to define genotype-phenotype correlationsSergio Ruiz-Llorente
Hereditary Endocrine Cancer Group, Centro Nacional de Investigaciones Oncologicas, Madrid, Spain
Hum Mutat 23:160-9. 2004..Structural stability data in the genotype-phenotype correlations therefore provides us with a better understanding of VHL clinical implications. It is also a suitable approach to the evaluation of unknown significance changes...
- DNA copy number profiling reveals different patterns of chromosomal instability within colorectal cancer according to the age of onsetMaría Arriba
Centre for Biomedical Research of 12 de Octubre University Hospital, Madrid, Spain
Mol Carcinog 55:705-16. 2016..Further studies are needed to understand the clinicopathological implications of these dissimilarities...
- Early-onset colorectal cancer is an easy and effective tool to identify retrospectively Lynch syndromeJose Perea
Surgery Department, Hospital Universitario 12 de Octubre, Madrid, Spain
Ann Surg Oncol 18:3285-91. 2011..We evaluated whether early age of onset is a good marker to identify Lynch syndrome, especially retrospectively, and if there is any other feature that could improve this identification...
- Toward a Molecular Classification of Synchronous Colorectal Cancer: Clinical and Molecular CharacterizationMaría Arriba
Digestive Cancer Research Group, Centre for Biomedical Research, 12 de Octubre University Hospital, Madrid, Spain
Clin Colorectal Cancer . 2016..It is estimated that synchronous colorectal cancer (SCRC) only accounts for 1.1% to 8.1% of all colorectal cancers (CRCs), and its molecular basis is still poorly understood...
- Germline missense pathogenic variants in the BRCA1 BRCT domain, p.Gly1706Glu and p.Ala1708Glu, increase cellular sensitivity to PARP inhibitor Olaparib by a dominant negative effectTereza Vaclová
Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre CNIO, Madrid, 28029, Spain
Hum Mol Genet . 2016....
- Clinicopathologic and pedigree differences in amsterdam I-positive hereditary nonpolyposis colorectal cancer families according to tumor microsatellite instability statusLaura Valle
Familial Cancer Unit, Spanish National Cancer Centre, Melchor Fernandez Almagro, Madrid, Spain
J Clin Oncol 25:781-6. 2007....
- DNA repair capacity is impaired in healthy BRCA1 heterozygous mutation carriersTereza Vaclová
Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre CNIO, C Melchor Fernandez Almagro 3, 28029, Madrid, Spain
Breast Cancer Res Treat 152:271-82. 2015..Our findings offer insight into how various heterozygous mutations in BRCA1 could lead to impairment of BRCA1 function and provide strong evidence of haploinsufficiency in BRCA1 mutation carriers. ..
- Generation of the BCR/ABL fusion gene in a Philadelphia chromosome-negative chronic myeloid leukaemia: insertion of 5.6 Mb of 9q34 into the BCR region of chromosome 22Laura Valle
Familial Cancer Unit, Human Cancer Genetics Program, Centro Nacional de Investigaciones Oncologicas, Madrid, Spain
Hematol Oncol 24:86-8. 2006..There is no transference of 22q material to chromosome 9 or to any other chromosomes. Clinical features and evolution of the patient are similar to those cases with classic Ph chromosome...
- Association study of 69 genes in the ret pathway identifies low-penetrance loci in sporadic medullary thyroid carcinomaSergio Ruiz-Llorente
Hereditary Endocrine Cancer Group, Human Genetics Group, Biomedical Research Institute, CSIC, UAM, Madrid, Spain
Cancer Res 67:9561-7. 2007..These results highlight the utility of association studies using homogeneous series of cases for better understanding complex diseases...
- A predictor based on the somatic genomic changes of the BRCA1/BRCA2 breast cancer tumors identifies the non-BRCA1/BRCA2 tumors with BRCA1 promoter hypermethylationSara Alvarez
Human Genetics Department, Molecular Pathology Programme, Spanish National Cancer Centre, c o Melchor Fernandez Almagro, 28029 Madrid, Spain
Clin Cancer Res 11:1146-53. 2005..This fact suggests that somatic BRCA1 inactivation could modify the profile of tumor progression in most of the BRCAX cases...
- Mutational analysis of FANCL, FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predispositionMaria J Garcia
Group of Human Genetics, Human Cancer Genetics Program, Spanish National Cancer Centre CNIO, C Melchor Fernandez Almagro 3, 28029 Madrid, Spain
Carcinogenesis 30:1898-902. 2009..Our results rule out a major role of FANCI, FANCL and FANCM in familial breast cancer susceptibility, suggesting that among the 13 known FA genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition...
- Unsupervised Analysis of Array Comparative Genomic Hybridization Data from Early-Onset Colorectal Cancer Reveals Equivalence with Molecular Classification and PhenotypesMaría Arriba
Centre for Biomedical Research of the 12 de Octubre University Hospital, Avda De Córdoba, S N, 28041, Madrid, Spain
Neoplasia 19:28-34. 2016....
- Deletion at 6q24.2-26 predicts longer survival of high-grade serous epithelial ovarian cancer patientsMarta M Kamieniak
Human Genetics Group, Spanish National Cancer Research Center CNIO, C Melchor Fernandez Almagro 3, 28029, Madrid, Spain
Mol Oncol 9:422-36. 2015....
- Molecular study of a new family with hereditary renal cell carcinoma and a translocation t(3;8)(p13;q24.1)Barbara Melendez
Department of Human Genetics, Spanish National Cancer Center CNIO, C Melchor Fernandez Almagro 3, 28029 Madrid, Spain
Hum Genet 112:178-85. 2003..In the present work, we have confirmed the proposed mechanism for the development of clear-cell RCC in this family, although we cannot discard the existence of other genes, in addition to VHL, being involved in hereditary RCC...
- De novo erythroleukemia chromosome features include multiple rearrangements, with special involvement of chromosomes 11 and 19Juan C Cigudosa
Cytogenetics Unit, Department of Human Genetics, Spanish National Cancer Center, Melchior Fernandez Almagro, 3 28029 Madrid, Spain
Genes Chromosomes Cancer 36:406-12. 2003..1, 20q11.2, and 21q11.2. This is the first molecular cytogenetic description of the karyotype abnormalities present in patients with ERL. It should assist in the identification of genes involved in erythroleukemogenesis...
- Immunohistochemical classification of non-BRCA1/2 tumors identifies different groups that demonstrate the heterogeneity of BRCAX familiesEmiliano Honrado
Department of Human Genetics, Spanish National Cancer Centre, Melchor Fernandez Almagro 3, Madrid, Spain
Mod Pathol 20:1298-306. 2007..In addition we have defined a subset of them that have somatic inactivation of the BRCA1 gene...
- Approach to early-onset colorectal cancer: clinicopathological, familial, molecular and immunohistochemical characteristicsJose Perea
Department of Surgery, Hospital Universitario 12 de Octubre, Avda de Cordoba s n, Madrid, Spain
World J Gastroenterol 16:3697-703. 2010..To characterize clinicopathological and familial features of early-onset colorectal cancer (CRC) and compare features of tumors with and without microsatellite instability (MSI)...
- Whole-exome sequencing identifies MDH2 as a new familial paraganglioma geneAlberto Cascon
Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre, Madrid, Spain AC, ICM, MCF, AAdC, VM, LIP, RL, AGG, MAR, CRA, MR Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain AC, LC, LIP, CRA, JS, MU, MR Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa UAM CSIC, Universidad Autónoma de Madrid and Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain LC, JS Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Medical Faculty Carl Gustav Carus, Technische Universitat Dresden, Dresden, Germany SR, MP, GE Departments of Pathology APB and Endocrinology and Nutrition Service MC, Hospital 12 de Octubre, Madrid, Molecular/Cancer Biology Laboratory
J Natl Cancer Inst 107:. 2015..6±0.25, P = .033), which was reversed by transient introduction of WT MDH2 cDNA. Segregation of the mutation with disease and absence of MDH2 in mutated tumors revealed MDH2 as a novel pheochromocytoma/paraganglioma susceptibility gene. ..
- Epigenetic differences arise during the lifetime of monozygotic twinsMario F Fraga
Epigenetics Laboratory, Spanish National Cancer Centre CNIO, Melchor Fernandez Almagro 3, 28029 Madrid, Spain
Proc Natl Acad Sci U S A 102:10604-9. 2005..These findings indicate how an appreciation of epigenetics is missing from our understanding of how different phenotypes can be originated from the same genotype...
- Cytogenetic characterization reveals that the SAM-1 erythroid cell line is derived from K-562 cellsSara Alvarez
Blood 100:3435-6. 2002
- Detection of APC gene deletions using quantitative multiplex PCR of short fluorescent fragmentsEster Castellsagué
Translational Research Laboratory, IDIBELL Institut Català d Oncologia, Barcelona, Spain
Clin Chem 54:1132-40. 2008..We used QMPSF for the APC gene to screen FAP APC/MUTYH mutation-negative families to improve their diagnostic surveillance...
- Mutations in the DNA mismatch repair gene MLH1 associated with early-onset colon cancerIrene Marcos
Unidad Clínica de Genética y Reproducción, Hospitales Universitarios Virgen del Rocio, Sevilla, Spain
J Pediatr 148:837-9. 2006..We present a HNPCC family with CRC at age 12 years. Our observations suggest that the germline mutation of the both copies of the MLH1 gene may play a role in the early onset of CRC...
- Retrorectal cystic hamartoma as benign cause of CA 19-9 elevationJesus Garcia-Donas
Department of Medical Oncology, Fundacion Hospital Alcorcon, Alcorcon, Spain
J Clin Oncol 25:4012-4. 2007