Judith Balmana

Summary

Affiliation: Hospital Universitari Vall d'Hebron
Country: Spain

Publications

  1. ncbi request reprint Stumbling blocks on the path to personalized medicine in breast cancer: the case of PARP inhibitors for BRCA1/2-associated cancers
    Judith Balmana
    Breast Cancer Center, Medical Oncology Department, University Hospital Vall d Hebron, Barcelona, Spain
    Cancer Discov 1:29-34. 2011
  2. doi request reprint Comparison of predictive models, clinical criteria and molecular tumour screening for the identification of patients with Lynch syndrome in a population-based cohort of colorectal cancer patients
    J Balmana
    Department of Medical Oncology, Hospital Vall d Hebron, Medical Department of Universitat Autónoma de Barcelona, Spain
    J Med Genet 45:557-63. 2008
  3. 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
  4. doi request reprint Uptake of predictive testing among relatives of BRCA1 and BRCA2 families: a multicenter study in northeastern Spain
    Judit Sanz
    Cancer Genetic Counselling Unit, Medical Oncology Department, Hospital de la Santa Creu i Sant Pau, Sant Antoni M Claret, 167, 08025, Barcelona, Spain
    Fam Cancer 9:297-304. 2010
  5. 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
  6. 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
  7. 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
  8. 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
  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 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

Collaborators

Detail Information

Publications14

  1. ncbi request reprint Stumbling blocks on the path to personalized medicine in breast cancer: the case of PARP inhibitors for BRCA1/2-associated cancers
    Judith Balmana
    Breast Cancer Center, Medical Oncology Department, University Hospital Vall d Hebron, Barcelona, Spain
    Cancer Discov 1:29-34. 2011
    ..In this article, we provide a brief review of current developments concerning PARP inhibitors in BRCA-associated cancers and express concerns about challenges to further development...
  2. doi request reprint Comparison of predictive models, clinical criteria and molecular tumour screening for the identification of patients with Lynch syndrome in a population-based cohort of colorectal cancer patients
    J Balmana
    Department of Medical Oncology, Hospital Vall d Hebron, Medical Department of Universitat Autónoma de Barcelona, Spain
    J Med Genet 45:557-63. 2008
    ..Their comparative performance with clinical criteria or universal molecular screening in a population based colorectal cancer (CRC) cohort has not been assessed...
  3. 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...
  4. doi request reprint Uptake of predictive testing among relatives of BRCA1 and BRCA2 families: a multicenter study in northeastern Spain
    Judit Sanz
    Cancer Genetic Counselling Unit, Medical Oncology Department, Hospital de la Santa Creu i Sant Pau, Sant Antoni M Claret, 167, 08025, Barcelona, Spain
    Fam Cancer 9:297-304. 2010
    ..Further studies are warranted to determine whether information is disseminated properly by probands and to learn about the reasons for those not undergoing testing...
  5. 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...
  6. 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...
  7. 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...
  8. 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
    ....
  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 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...
  11. doi request reprint What factors may influence psychological well being at three months and one year post BRCA genetic result disclosure?
    Nina Bosch
    Department of Medical Oncology, Vall d Hebron University Hospital, Passeig Vall d Hebron 119 129, 08035 Barcelona, Spain
    Breast 21:755-60. 2012
    ..It is our task to demystify the allegedly negative impact of BRCA testing on psychological well being to increase the uptake of genetic testing and benefit those who are at high risk of developing breast, ovarian and prostate cancer...
  12. doi request reprint MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families
    Ester Borràs
    Laboratori de Recerca Translacional, Institut Catala d Oncologia, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain
    Cancer Res 70:7379-91. 2010
    ..306+5G>A and c.1865T>A mutations. These findings have important implications for genetic counseling and molecular diagnosis of Lynch syndrome...
  13. doi request reprint Opinion about reproductive decision making among individuals undergoing BRCA1/2 genetic testing in a multicentre Spanish cohort
    Daniel Fortuny
    Medical Oncology Department, Hospital Universitari Vall d Hebron, Universitat Autonoma de Barcelona, Barcelona, Spain
    Hum Reprod 24:1000-6. 2009
    ..Opinion about reproductive decisions among individuals undergoing BRCA1/2 testing in our institutions is unknown...
  14. 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...