Orland Diez

Summary

Affiliation: Hospital Universitari Vall d'Hebron
Country: Spain

Publications

  1. pmc Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers
    Antonis C Antoniou
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Worts Causeway, Cambridge CB1 8RN, UK
    Breast Cancer Res 14:R33. 2012
  2. doi request reprint Heterogeneous prevalence of recurrent BRCA1 and BRCA2 mutations in Spain according to the geographical area: implications for genetic testing
    Orland Diez
    Oncogenetics Laboratory, Vall d Hebron University Hospital, Barcelona, Spain
    Fam Cancer 9:187-91. 2010
  3. doi request reprint Identification of a new complex deleterious mutation in exon 18 of the BRCA2 gene in a hereditary male/female breast cancer family
    Orland Diez
    Oncogenetics Laboratory, University Hospital Vall d Hebron, 08035, Barcelona, Spain
    Breast Cancer Res Treat 123:587-90. 2010
  4. doi request reprint A novel de novo BRCA2 mutation of paternal origin identified in a Spanish woman with early onset bilateral breast cancer
    Orland Diez
    Oncogenetics Laboratory, University Hospital Vall d Hebron, Barcelona, Spain
    Breast Cancer Res Treat 121:221-5. 2010
  5. ncbi request reprint RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain
    Berta Campos
    Servei de Genètica, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
    Hum Mutat 22:337. 2003
  6. ncbi request reprint [Haplotype of the BRCA2 6857delAA mutation in 4 families with breast/ovarian cancer]
    Berta Campos
    Servei de Genètica, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
    Med Clin (Barc) 123:543-5. 2004
  7. doi request reprint Mutation analysis of the BCCIP gene for breast cancer susceptibility in breast/ovarian cancer families
    Sandra Bonache
    Oncogenetics Laboratory, Vall d Hebron Institute of Oncology VHIO, Universitat Autonoma de Barcelona, Barcelona, Spain Oncogenetics Laboratory, Vall d Hebron Research Institute VHIR, Universitat Autonoma de Barcelona, Barcelona, Spain Electronic address
    Gynecol Oncol 131:460-3. 2013
  8. doi request reprint The variants BRCA1 IVS6-1G>A and BRCA2 IVS15+1G>A lead to aberrant splicing of the transcripts
    Sara Gutierrez-Enriquez
    Fundació Institut de Recerca de l Hospital Universitari Vall d Hebron, Barcelona, Spain
    Breast Cancer Res Treat 117:461-5. 2009
  9. ncbi request reprint Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain
    Berta Campos
    Servei de Genètica, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
    Hum Mutat 21:452. 2003
  10. doi request reprint Mutation analysis of the SHFM1 gene in breast/ovarian cancer families
    Sandra Bonache
    Oncogenetics Laboratory, Vall d Hebron Institute of Oncology, Universitat Autonoma de Barcelona, Passeig Vall d Hebron 119 129, 08035 Barcelona, Spain
    J Cancer Res Clin Oncol 139:529-32. 2013

Collaborators

Detail Information

Publications17

  1. pmc Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers
    Antonis C Antoniou
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Worts Causeway, Cambridge CB1 8RN, UK
    Breast Cancer Res 14:R33. 2012
    ..2)...
  2. doi request reprint Heterogeneous prevalence of recurrent BRCA1 and BRCA2 mutations in Spain according to the geographical area: implications for genetic testing
    Orland Diez
    Oncogenetics Laboratory, Vall d Hebron University Hospital, Barcelona, Spain
    Fam Cancer 9:187-91. 2010
    ....
  3. doi request reprint Identification of a new complex deleterious mutation in exon 18 of the BRCA2 gene in a hereditary male/female breast cancer family
    Orland Diez
    Oncogenetics Laboratory, University Hospital Vall d Hebron, 08035, Barcelona, Spain
    Breast Cancer Res Treat 123:587-90. 2010
    ..The mutation was present in a Spanish hereditary male/female breast cancer family...
  4. doi request reprint A novel de novo BRCA2 mutation of paternal origin identified in a Spanish woman with early onset bilateral breast cancer
    Orland Diez
    Oncogenetics Laboratory, University Hospital Vall d Hebron, Barcelona, Spain
    Breast Cancer Res Treat 121:221-5. 2010
    ..None of her parents carried the mutation, and paternity was confirmed. Subsequent molecular analysis demonstrated that the mutation was a novel de novo germ line mutation located in the paternal allele of the BRCA2 gene...
  5. ncbi request reprint RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain
    Berta Campos
    Servei de Genètica, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
    Hum Mutat 22:337. 2003
    ..This work highlights the importance of studying mutations at DNA and RNA levels in order to clarify their pathological effect. This information is essential for providing efficient counseling for breast/ovarian cancer families...
  6. ncbi request reprint [Haplotype of the BRCA2 6857delAA mutation in 4 families with breast/ovarian cancer]
    Berta Campos
    Servei de Genètica, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
    Med Clin (Barc) 123:543-5. 2004
    ..It is estimated that 5-10% of all breast cancers are hereditary, mainly are due to germline mutations in the BRCA1 and BRCA2 genes...
  7. doi request reprint Mutation analysis of the BCCIP gene for breast cancer susceptibility in breast/ovarian cancer families
    Sandra Bonache
    Oncogenetics Laboratory, Vall d Hebron Institute of Oncology VHIO, Universitat Autonoma de Barcelona, Barcelona, Spain Oncogenetics Laboratory, Vall d Hebron Research Institute VHIR, Universitat Autonoma de Barcelona, Barcelona, Spain Electronic address
    Gynecol Oncol 131:460-3. 2013
    ..Variants in the BCCIP gene could affect the BRCA2 functionality and be associated to the familial breast/ovarian carcinogenesis. Therefore, BCCIP gene is a potential candidate for being involved in heritable cancer susceptibility...
  8. doi request reprint The variants BRCA1 IVS6-1G>A and BRCA2 IVS15+1G>A lead to aberrant splicing of the transcripts
    Sara Gutierrez-Enriquez
    Fundació Institut de Recerca de l Hospital Universitari Vall d Hebron, Barcelona, Spain
    Breast Cancer Res Treat 117:461-5. 2009
    ..Our findings highlight the importance of studying mutations at DNA and RNA levels in order to clarify the effect of the suspected mutation and to provide adequate counseling for breast/ovarian cancer families...
  9. ncbi request reprint Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain
    Berta Campos
    Servei de Genètica, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
    Hum Mutat 21:452. 2003
    ..1 cM. Our results suggest that these families shared a common ancestry with BRCA2 9254del5, which is a founder mutation originating in the Northeast Spanish, with an estimated age of 92 (95% CI 56-141) generations...
  10. doi request reprint Mutation analysis of the SHFM1 gene in breast/ovarian cancer families
    Sandra Bonache
    Oncogenetics Laboratory, Vall d Hebron Institute of Oncology, Universitat Autonoma de Barcelona, Passeig Vall d Hebron 119 129, 08035 Barcelona, Spain
    J Cancer Res Clin Oncol 139:529-32. 2013
    ..Therefore, variants in the SHFM1 gene could affect the BRCA2 functionality and be associated with the familial breast/ovarian carcinogenesis...
  11. doi request reprint Ionizing radiation or mitomycin-induced micronuclei in lymphocytes of BRCA1 or BRCA2 mutation carriers
    Sara Gutierrez-Enriquez
    Vall d Hebron Institute of Oncology, Barcelona, Spain
    Breast Cancer Res Treat 127:611-22. 2011
    ..Since MMC can be used as an anti-cancer drug, these data may be relevant for the management and follow-up of BRCA2 mutation carriers...
  12. ncbi request reprint Genetic counseling program in familial breast cancer: analysis of its effectiveness, cost and cost-effectiveness ratio
    Judith Balmana
    Department of Medical Oncology, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Barcelona, Spain
    Int J Cancer 112:647-52. 2004
    ..These results need to be confirmed as more effective interventions for cancer prevention and screening are being implemented...
  13. ncbi request reprint Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects
    Orland Diez
    Servei de Genètica, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
    Hum Mutat 22:301-12. 2003
    ..Knowledge of the spectrum of mutations and their geographical distribution in Spain will allow a more effective detection strategy in countries with large Spanish populations...
  14. ncbi request reprint [Breast cancer susceptibility genes]
    Orland Diez
    Servicio de Genetica, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
    Med Clin (Barc) 126:304-10. 2006
    ..The mutation 1100delC of the CHEK2 gene seems to be a low penetrance allele of BC susceptibility. The objective of the present manuscript is to review some of the susceptibility genes identified to date...
  15. doi request reprint Apoptosis for prediction of radiotherapy late toxicity: lymphocyte subset sensitivity and potential effect of TP53 Arg72Pro polymorphism
    Maria J Fuentes-Raspall
    Radiation Oncology Department, Santa Creu i Sant Pau Hospital, Barcelona, Spain
    Apoptosis 20:371-82. 2015
    ..It would be advisable to distinguish the CD8 NK lymphocytes from the pool of CD8+ lymphocytes in IA assays using CD8+ cells. Our data suggest that the 72Pro TP53 allele may influence the IA of patients with radiotherapy toxicity...
  16. doi request reprint PI3K inhibition impairs BRCA1/2 expression and sensitizes BRCA-proficient triple-negative breast cancer to PARP inhibition
    Yasir H Ibrahim
    Experimental Therapeutics Laboratory, Vall d Hebron Institute of Oncology VHIO, Pg Vall d Hebron, Barcelona, Spain
    Cancer Discov 2:1036-47. 2012
    ....
  17. pmc Molecular features of the basal-like breast cancer subtype based on BRCA1 mutation status
    Aleix Prat
    Translational Genomics Group, Vall d Hebron Institute of Oncology VHIO, Pg Vall d Hebron, 119 129, 08035, Barcelona, Spain
    Breast Cancer Res Treat 147:185-91. 2014
    ....