Ana Osorio

Summary

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 Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families
    Ana Osorio
    Human Genetics Group, Human Cancer Genetics Programme, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, C Melchor Fernandez Almagro 3, Madrid, Spain
    Hum Mol Genet 21:2889-98. 2012
  3. pmc Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2
    Anna Marie Mulligan
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, 2 Worts Causeway, Cambridge, CB1 8RN, UK
    Breast Cancer Res 13:R110. 2011
  4. pmc Exploring the link between MORF4L1 and risk of breast cancer
    Griselda Martrat
    Translational Research Laboratory, Catalan Institute of Oncology, Bellvitge Institute for Biomedical Research IDIBELL, Gran Via 199, L Hospitalet del Llobregat 08908, Spain
    Breast Cancer Res 13:R40. 2011
  5. ncbi request reprint Over-representation of two specific haplotypes among chromosomes harbouring BRCA1 mutations
    Ana Osorio
    Department of Human Genetics, Spanish National Cancer Center, Madrid, Spain
    Eur J Hum Genet 11:489-92. 2003
  6. ncbi request reprint Classification of missense variants of unknown significance in BRCA1 based on clinical and tumor information
    A Osorio
    Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Centre, Madrid, Spain
    Hum Mutat 28:477-85. 2007
  7. pmc An evaluation of the polymorphisms Ins16bp and Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriers
    A Osorio
    Human Cancer Genetics Programme, Human Genetics Group, Spanish National Cancer Centre, Madrid, Spain
    Br J Cancer 99:974-7. 2008
  8. ncbi request reprint The breast cancer low-penetrance allele 1100delC in the CHEK2 gene is not present in Spanish familial breast cancer population
    Ana Osorio
    Department of Human Genetics, Spanish National Cancer Center, Madrid, Spain
    Int J Cancer 108:54-6. 2004
  9. doi request reprint Evaluation of the BRCA1 interacting genes RAP80 and CCDC98 in familial breast cancer susceptibility
    Ana 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
  10. ncbi request reprint A haplotype containing the p53 polymorphisms Ins16bp and Arg72Pro modifies cancer risk in BRCA2 mutation carriers
    A Osorio
    Department of Human Genetics, Spanish National Cancer Center, Madrid, Spain
    Hum Mutat 27:242-8. 2006

Detail Information

Publications56

  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 Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families
    Ana Osorio
    Human Genetics Group, Human Cancer Genetics Programme, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, C Melchor Fernandez Almagro 3, Madrid, Spain
    Hum Mol Genet 21:2889-98. 2012
    ....
  3. pmc Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2
    Anna Marie Mulligan
    Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, 2 Worts Causeway, Cambridge, CB1 8RN, UK
    Breast Cancer Res 13:R110. 2011
    ..It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour...
  4. pmc Exploring the link between MORF4L1 and risk of breast cancer
    Griselda Martrat
    Translational Research Laboratory, Catalan Institute of Oncology, Bellvitge Institute for Biomedical Research IDIBELL, Gran Via 199, L Hospitalet del Llobregat 08908, Spain
    Breast Cancer Res 13:R40. 2011
    ..To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens...
  5. ncbi request reprint Over-representation of two specific haplotypes among chromosomes harbouring BRCA1 mutations
    Ana Osorio
    Department of Human Genetics, Spanish National Cancer Center, Madrid, Spain
    Eur J Hum Genet 11:489-92. 2003
    ..These findings may have important consequences for the selection of families with higher probabilities of carrying mutations in the BRCA1 gene...
  6. ncbi request reprint Classification of missense variants of unknown significance in BRCA1 based on clinical and tumor information
    A Osorio
    Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Centre, Madrid, Spain
    Hum Mutat 28:477-85. 2007
    ..We found that combining this relatively easily collected information can be sufficient to classify variants as pathogenic or neutral if tumors from at least three carriers of the same variant can be collected and analyzed...
  7. pmc An evaluation of the polymorphisms Ins16bp and Arg72Pro in p53 as breast cancer risk modifiers in BRCA1 and BRCA2 mutation carriers
    A Osorio
    Human Cancer Genetics Programme, Human Genetics Group, Spanish National Cancer Centre, Madrid, Spain
    Br J Cancer 99:974-7. 2008
    ..In this study, we have evaluated this association in a series of 2932 BRCA1/2 mutation carriers from the Consortium of Investigators of Modifiers of BRCA1 and BRCA2...
  8. ncbi request reprint The breast cancer low-penetrance allele 1100delC in the CHEK2 gene is not present in Spanish familial breast cancer population
    Ana Osorio
    Department of Human Genetics, Spanish National Cancer Center, Madrid, Spain
    Int J Cancer 108:54-6. 2004
    ..However, our results suggest that this variant is absent or very infrequent in our population, making its screening irrelevant from the practical point of view...
  9. doi request reprint Evaluation of the BRCA1 interacting genes RAP80 and CCDC98 in familial breast cancer susceptibility
    Ana 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...
  10. ncbi request reprint A haplotype containing the p53 polymorphisms Ins16bp and Arg72Pro modifies cancer risk in BRCA2 mutation carriers
    A Osorio
    Department of Human Genetics, Spanish National Cancer Center, Madrid, Spain
    Hum Mutat 27:242-8. 2006
    ..Our results revealed a decrease in p53 apoptotic rate associated with the No Ins-72Pro haplotype...
  11. ncbi request reprint Loss of heterozygosity analysis at the BRCA loci in tumor samples from patients with familial breast cancer
    Ana Osorio
    Department of Human Genetics, Centro Nacional de Investigaciones Oncologicas, Madrid, Spain
    Int J Cancer 99:305-9. 2002
    ....
  12. pmc Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA)
    A Osorio
    Human Genetics Group, Spanish National Cancer Research Centre, C Melchor Fernandez Almagro 3, 28029 Madrid, Spain
    Br J Cancer 101:2048-54. 2009
    ....
  13. pmc Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2
    A Osorio
    Human Genetics Group, Spanish National Cancer Centre, C Melchor Fernandez Almagro 3, 28029 Madrid, Spain
    Br J Cancer 104:1356-61. 2011
    ..In this study, we have evaluated the XRCC1 gene that participates in the BER pathway, as phenotypic modifier of BRCA1 and BRCA2...
  14. doi request reprint Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families
    Maria 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
    ....
  15. ncbi request reprint The variant E233G of the RAD51D gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 mutations
    Raquel Rodríguez-López
    Department of Human Genetics, Spanish National Cancer Centre, C Melchior Fernandez Almagro 3, 28029 Madrid, Spain
    Int J Cancer 110:845-9. 2004
    ..This suggests a role for E233G as a low-penetrance susceptibility gene in the specific subgroup of high-risk familial breast cancer cases that are not related to BRCA1/2...
  16. ncbi request reprint Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast/ovarian cancer families: implications for genetic testing
    Miguel de la Hoya
    Laboratory of Molecular Oncology, Hospital Universitario San Carlos, Madrid, Spain
    Int J Cancer 97:466-71. 2002
    ..4% and 79%, respectively (probability cutoff of 30%). The findings of our work may be a useful tool for increasing the cost-effectiveness of genetic testing in familial cancer clinics...
  17. doi request reprint Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers
    Roger 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...
  18. ncbi request reprint Phenotypic characterization of BRCA1 and BRCA2 tumors based in a tissue microarray study with 37 immunohistochemical markers
    Jose Palacios
    Breast and Gynaecological Cancer Laboratory, Centro Nacional de Investigaciones Oncologicas CNIO, Madrid, Spain
    Breast Cancer Res Treat 90:5-14. 2005
    ....
  19. ncbi request reprint No mutations in the XRCC2 gene in BRCA1/2-negative high-risk breast cancer families
    Raquel Rodríguez-López
    Department of Human Genetics, Spanish National Cancer Center, Madrid, Spain
    Int J Cancer 103:136-7. 2003
  20. ncbi request reprint Clustering of cancer-related mutations in a subset of BRCA1 alleles: a study in the Spanish population
    Miguel de la Hoya
    Laboratory of Molecular Oncology, Hospital Universitario San Carlos, Madrid, Spain
    Int J Cancer 100:618-9. 2002
    ..Further analysis involving a larger set of mutations and different populations are needed to clarify the relevance of this unexpected finding...
  21. doi request reprint The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain
    Roger 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...
  22. ncbi request reprint Immunohistochemical classification of non-BRCA1/2 tumors identifies different groups that demonstrate the heterogeneity of BRCAX families
    Emiliano 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...
  23. doi request reprint 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 predisposition
    Maria 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...
  24. ncbi request reprint The accumulation of specific amplifications characterizes two different genomic pathways of evolution of familial breast tumors
    Lorenzo Melchor
    Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Center, Madrid, Spain
    Clin Cancer Res 11:8577-84. 2005
    ....
  25. doi request reprint Mutational analysis of telomere genes in BRCA1/2-negative breast cancer families with very short telomeres
    Kira Yanowsky
    Human Genetics Group, Spanish National Cancer Research Centre CNIO, Melchor Fernandez Almagro 3, 28029 Madrid, Spain
    Breast Cancer Res Treat 134:1337-43. 2012
    ..However, functional prediction analysis and control population studies of both variants ruled out its possible pathogenic role. Our results discard a major contribution of telomere-specific genes in hereditary breast cancer...
  26. ncbi request reprint Immunohistochemical characteristics defined by tissue microarray of hereditary breast cancer not attributable to BRCA1 or BRCA2 mutations: differences from breast carcinomas arising in BRCA1 and BRCA2 mutation carriers
    Jose Palacios
    Laboratory of Breast and Gynecological Cancer, Immunohistological Unit, Centro Nacional de Investigaciones Oncologicas, 28029 Madrid, Spain
    Clin Cancer Res 9:3606-14. 2003
    ..Therefore, it is of major importance to define the morphological, immunohistochemical, and molecular features of this group of tumors to improve genetic testing and also gain further insight into the biological characteristics of tumors...
  27. ncbi request reprint Estrogen receptor status could modulate the genomic pattern in familial and sporadic breast cancer
    Lorenzo Melchor
    Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Center CNIO, Madrid, Spain
    Clin Cancer Res 13:7305-13. 2007
    ....
  28. pmc Genetic anticipation is associated with telomere shortening in hereditary breast cancer
    Beatriz 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...
  29. ncbi request reprint Mutant BRCA1 alleles transmission: different approaches and different biases
    Miguel de la Hoya
    Molecular Oncology Laboratory, Hospital Clinico San Carlos, Madrid, Spain
    Int J Cancer 113:166-7. 2005
    ..In this report we propose different approaches to overcome such biases and we present additional data supporting a non-random transmission of BRCA1 mutant alleles...
  30. doi request reprint Transcriptional characteristics of familial non-BRCA1/BRCA2 breast tumors
    Ricardo Fernández-Ramires
    Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Center CNIO and CIBERER, Madrid, Spain
    Int J Cancer 128:2635-44. 2011
    ....
  31. pmc Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles
    Francisco Javier Gracia-Aznárez
    Human Genetics Group, Spanish National Cancer Centre CNIO, Madrid, Spain
    PLoS ONE 8:e55681. 2013
    ....
  32. ncbi request reprint Genomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer
    Miguel de la Hoya
    Laboratorio de Oncología Molecular y Servicio de Oncología Médica, Hospital Clinico San Carlos, Madrid, and Instituto de Biología y Genética Molecular, Facultad de Medicina, Universidad de Valladolid, Spain
    Clin Chem 52:1480-5. 2006
    ..Great differences in the spectrum and prevalence of BRCA1 LGR have been observed among populations. Here we report the first comprehensive analysis of BRCA1 LGRs conducted in Spain...
  33. doi request reprint Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles
    Ana Osorio
    Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, CNIO, Madrid, Spain Centre for Biomedical Network Research on Rare Diseases CIBERER, Spain
    Hum Mutat 34:1615-8. 2013
    ..Finally, we identified additional bone-fide FA ERCC4 mutations specifically disrupting interstrand cross-link repair. ..
  34. ncbi request reprint A predictor based on the somatic genomic changes of the BRCA1/BRCA2 breast cancer tumors identifies the non-BRCA1/BRCA2 tumors with BRCA1 promoter hypermethylation
    Sara 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...
  35. doi request reprint DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
    Ana Osorio
    Human Genetics Group, Spanish National Cancer Centre CNIO, Madrid, Spain Biomedical Network on Rare Diseases CIBERER, Madrid, Spain
    PLoS Genet 10:e1004256. 2014
    ..12 95%CI: 1.03-1.21, p = 4.8×10-3). DNA glycosylases involved in the first steps of the BER pathway may be associated with cancer risk in BRCA1/2 mutation carriers and should be more comprehensively studied. ..
  36. pmc Deregulated miRNAs in hereditary breast cancer revealed a role for miR-30c in regulating KRAS oncogene
    Miljana Tanic
    Human Genetics Group, Spanish National Cancer Research Centre CNIO, Madrid, Spain
    PLoS ONE 7:e38847. 2012
    ..In addition, we provide evidence that KRAS is a target of miR-30c, and that this miRNA suppresses breast cancer cell growth potentially through inhibition of KRAS signaling...
  37. pmc Genomewide high-density SNP linkage analysis of non-BRCA1/2 breast cancer families identifies various candidate regions and has greater power than microsatellite studies
    Anna Gonzalez-Neira
    Genotyping Unit, CeGen, Human Cancer Genetics Programme, Spanish National Cancer Centre, Spain
    BMC Genomics 8:299. 2007
    ....
  38. ncbi request reprint Loss of the actin regulator HSPC300 results in clear cell renal cell carcinoma protection in Von Hippel-Lindau patients
    Alberto Cascon
    Hereditary Endocrine Cancer Group, Centro Nacional de Investigaciones Oncologicas CNIO, Madrid, Spain
    Hum Mutat 28:613-21. 2007
    ..These clinical and functional data indicate a relevant function of HSPC300 in tumor cell progression, and suggest future therapeutic strategies based upon the inhibition of HSPC300 in renal cell carcinoma and possibly on other cancers...
  39. ncbi request reprint Molecular analysis of the BRCA2 gene in 16 breast/ovarian cancer Spanish families
    A Osorio
    Department of Genetics, Fundacion Jimenez Diaz, Madrid, Spain
    Clin Genet 54:142-7. 1998
    ..All the families carrying the 936delAAAC mutation harboured part of a common haplotype shared by other reported carriers, suggesting a possible founder effect for this mutation...
  40. ncbi request reprint Pathology and gene expression of hereditary breast tumors associated with BRCA1, BRCA2 and CHEK2 gene mutations
    E Honrado
    Human Genetics Group, Spanish National Cancer Centre CNIO, Madrid, Spain
    Oncogene 25:5837-45. 2006
    ..However, they represent an example showing how different mutations of the same gene may be associated with specific histological subtypes of cancer...
  41. pmc Molecular analysis of the BRCA1 and BRCA2 genes in 32 breast and/or ovarian cancer Spanish families
    A Osorio
    Department of Genetics, , Madrid, Spain
    Br J Cancer 82:1266-70. 2000
    ..Our results are in agreement with the idea that a great proportion of moderate-risk cancer families could be due to low penetrance susceptibility genes distinct from BRCA1 or BRCA2...
  42. ncbi request reprint A rapid and easy method for multiple endocrine neoplasia type 1 mutation detection using conformation-sensitive gel electrophoresis
    Cebrián Arancha
    Department of Human Genetics, Molecular Pathology Program, Centro Nacional de Investigaciones Oncologicas, Madrid, Spain
    J Hum Genet 47:190-5. 2002
    ..Mutation screening of the MEN1 gene using CSGE was demonstrated to be a fast, simple, and inexpensive method to study patients suspected of having MEN1 disease...
  43. ncbi request reprint Mutation analysis of the BRCA2 gene in breast/ovarian cancer Spanish families: identification of two new mutations
    A Osorio
    Department of Genetics, Fundacion Jimenez Diaz, Madrid, Spain
    Cancer Lett 121:115-8. 1997
    ..3%), including two with male breast cancer. Three of the mutations were frameshift and one was a missense. Two of the mutations have been previously published and two are new mutations...
  44. pmc Gene expression profiling integrated into network modelling reveals heterogeneity in the mechanisms of BRCA1 tumorigenesis
    R Fernández-Ramires
    Spanish National Cancer Center CNIO and CIBERER, Madrid, Spain
    Br J Cancer 101:1469-80. 2009
    ..Here, we describe molecular signatures that define BRCA1 subclasses depending on the expression of the gene encoding for oestrogen receptor, ESR1...
  45. ncbi request reprint Distinct genomic aberration patterns are found in familial breast cancer associated with different immunohistochemical subtypes
    L Melchor
    Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Center CNIO, Madrid, Spain
    Oncogene 27:3165-75. 2008
    ..Our data are similar to those obtained in SBC studies, highlighting the existence of distinct genetic pathways of tumor evolution, common to both SBC and FBC...
  46. ncbi request reprint Molecular analysis of the six most recurrent mutations in the BRCA1 gene in 87 Spanish breast/ovarian cancer families
    A Osorio
    Department of Genetics, Fundacion Jimenez Diaz, Madrid, Spain
    Cancer Lett 123:153-8. 1998
    ..Our results suggest that these six mutations are not specially recurrent in the Spanish population and that differences in the geographical origin of the families can influence the type and proportion of mutations identified...
  47. ncbi request reprint A region of allelic imbalance in 1q31-32 in primary breast cancer coincides with a recombination hot spot
    J Benitez
    Departamento Genética, Fundacion Jimenez Diaz, Madrid, Spain
    Cancer Res 57:4217-20. 1997
    ..Most important, the critical region of AI coincides with a female hot spot of recombination, suggesting a possible correlation between the two regions...
  48. pmc RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies
    Antonis C Antoniou
    Cancer Research UK, Genetic Epidemiology Unit, Strangeways Research Laboratory, Cambridge, CB1 8RN, UK
    Am J Hum Genet 81:1186-200. 2007
    ..Thus, 135G-->C may modify the risk of breast cancer in BRCA2 mutation carriers by altering the expression of RAD51. RAD51 is the first gene to be reliably identified as a modifier of risk among BRCA1/2 mutation carriers...
  49. ncbi request reprint Age at menarche and menopause and breast cancer risk in the International BRCA1/2 Carrier Cohort Study
    Jenny Chang-Claude
    Division of Cancer Epidemiology, German Cancer Research Center, Im Neuenheimer Feld 280 69120 Heidelberg, Germany
    Cancer Epidemiol Biomarkers Prev 16:740-6. 2007
    ..Early menarche and late menopause are important risk factors for breast cancer, but their effects on breast cancer risk in BRCA1 and BRCA2 carriers are unknown...
  50. ncbi request reprint Accurate prediction of BRCA1 and BRCA2 heterozygous genotype using expression profiling after induced DNA damage
    Zsofia Kote-Jarai
    Translational Cancer Genetics Team, The Institute of Cancer Research, Sutton, Surrey, United Kingdom
    Clin Cancer Res 12:3896-901. 2006
    ..We aimed to establish if BRCA1/BRCA2 mutation carriers could be distinguished from noncarriers based on expression profiling of normal cells...
  51. 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...
  52. ncbi request reprint Immunohistochemical expression of DNA repair proteins in familial breast cancer differentiate BRCA2-associated tumors
    Emiliano Honrado
    Human Genetics Department Centro Nacional Investigaciones Oncológicas Melchor Fernández Almagro, 3 28029 Madrid, Spain
    J Clin Oncol 23:7503-11. 2005
    ..Because BRCA1 and BRCA2 genes participate in the DNA repair pathway, we have performed an immunohistochemical study with markers related to this pathway to establish the profile of the three groups...
  53. pmc Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers
    Antonis C Antoniou
    Cancer Research UK, Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, UK
    Am J Hum Genet 82:937-48. 2008
    ....
  54. ncbi request reprint Re: Germline BRCA1 mutations and a basal epithelial phenotype in breast cancer
    Jose Palacios
    J Natl Cancer Inst 96:712-4; author reply 714. 2004
  55. 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...
  56. pmc Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium
    Deborah Thompson
    CRC Genetic Epidemiology Unit, Strangeways Research Laboratories, University of Cambridge, Cambridge CB1 4RN, United Kingdom
    Proc Natl Acad Sci U S A 99:827-31. 2002
    ..65 was -11.0]. We conclude that, if a susceptibility gene does exist at this locus, it can only account for a small proportion of non-BRCA1/2 families with multiple cases of early-onset breast cancer...