- Germline DNA copy number variation in familial and early-onset breast cancer
Ana Cv Krepischi
National Institute of Science and Technology in Oncogenomics, AC Camargo Hospital, Rua Taguá 440, 01508 010, Sao Paulo, Brazil
Breast Cancer Res 14:R24. 2012
..We evaluated the role of germline CNVs in breast cancer susceptibility, in particular those with low population frequencies (rare CNVs), which are more likely to cause disease."..
- A novel SYBR-based duplex qPCR for the detection of gene dosage: detection of an APC large deletion in a familial adenomatous polyposis patient with an unusual phenotype
Giovana Tardin Torrezan
CIPE International Center of Research and Training A, C, Camargo Hospital, Rua Taguá, Sao Paulo, Brazil
BMC Med Genet 13:55. 2012
..Large deletions in APC are a common cause of FAP; despite the existence of a variety of gene dosage detection methodologies, most are labor intensive and time and resource consuming...
- Breakpoint characterization of a novel large intragenic deletion of MUTYH detected in a MAP patient: case report
Giovana T Torrezan
International Center of Research and Training CIPE, A, C, Camargo Hospital, Sao Paulo, SP, Brazil
BMC Med Genet 12:128. 2011
..Most MUTYH pathogenic variants are missense mutations, and until recently no gross genomic deletions had been described...
- Poly (A)+ transcriptome assessment of ERBB2-induced alterations in breast cell lines
Dirce Maria Carraro
Centro Internacional de Ensino e Pesquisa, Hospital AC Camargo, Sao Paulo, Sao Paulo, Brazil
PLoS ONE 6:e21022. 2011
- Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients
Giovana Tardin Torrezan
Laboratory of Genomics and Molecular Biology, A C Camargo Hospital, Sao Paulo, SP, Brazil
Orphanet J Rare Dis 8:54. 2013
..The spectrum of mutations as well as the genotype-phenotype correlations in polyposis syndromes present clinical impact and can be population specific, making important to obtain genetic and clinical data from different populations...
- Comprehensive analysis of BRCA1, BRCA2 and TP53 germline mutation and tumor characterization: a portrait of early-onset breast cancer in Brazil
Dirce Maria Carraro
Laboratory of Genomics and Molecular Biology, A C Camargo Hospital, Sao Paulo, Brazil
PLoS ONE 8:e57581. 2013
..Additionally, the data revealed molecular factors that potentially trigger the tumor development in young patients...
- Influence of the interaction between nodal fibroblast and breast cancer cells on gene expression
Rosângela Portilho Costa Santos
Departamento de Radiologia e Oncologia, LIM24, Faculdade de Medicina, Universidade de Sao Paulo, Avenida Dr Arnaldo, 455, 4º andar, sala 4124, CEP 01246 903 Sao Paulo, SP, Brazil
Tumour Biol 32:145-57. 2011
..However, fibroblasts effects are distinct in each one of the breast cancer lineages, suggesting that the inter-relationships between stromal and malignant cells are dependent on the intrinsic subtype of the tumor...
- Reciprocal changes in gene expression profiles of cocultured breast epithelial cells and primary fibroblasts
Patricia Bortman Rozenchan
Disciplina de Oncologia, Departamento de Radiologia, Faculdade de Medicina da Universidade de Sao Paulo, Hospital A C Camargo, Av Dr Arnaldo, 455, Sala 4112, Sao Paulo, SP CEP 01246 903, Brazil
Int J Cancer 125:2767-77. 2009
..Our data indicate that interactions between breast fibroblasts and basal epithelial cells resulted in alterations in the genomic profiles of both cell types which may help to clarify some aspects of this heterotypic signaling...
- Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals
Mev Dominguez Valentin
Laboratory of Genomics and Molecular Biology, Centro Internacional de Pesquisa e Ensino, A C Camargo Hospital, Sao Paulo, Brazil
Fam Cancer 10:641-7. 2011
..The high rate of novel mutations demonstrates the importance of defining MLH1 and MSH2 mutations in distinct LS populations...
- Predictive models for mutations in mismatch repair genes: implication for genetic counseling in developing countries
Erika Maria Monteiro Santos
Graduation Program, AC Camargo Hospital, Sao Paulo, Brazil
BMC Cancer 12:64. 2012
..This study aims to evaluate sensitivity and specificity of five predictive models for germline mutations in repair genes in a sample of individuals with suspected Lynch syndrome...
- Clinicopathological significance of ubiquitin-specific protease 2a (USP2a), fatty acid synthase (FASN), and ErbB2 expression in oral squamous cell carcinomas
Sabrina Daniela da Silva
Department of Oral Diagnosis, School of Dentistry of Piracicaba, State University of Campinas UNICAMP, Av Limeira 901, CP52, Areão, Piracicaba, CEP 13414 018, Sao Paulo, Brazil
Oral Oncol 45:e134-9. 2009
..0001, respectively). Taken together, the results presented here suggest a molecular connection among FASN, ErbB2, and USP2a in OSCC since their mRNA and protein levels were associated with tumor progression and poor prognosis...
- Alternative splicing: a bioinformatics perspective
Elisa Napolitano Ferreira
Ludwig Institute for Cancer Research, Sao Paulo Branch, Hospital A C Camargo, Sao Paulo, Brazil
Mol Biosyst 3:473-7. 2007
..In this review, we discuss several issues related to alternative splicing with a special emphasis on identification strategies based on bioinformatics...
- Gene expression profile of residual breast cancer after doxorubicin and cyclophosphamide neoadjuvant chemotherapy
Maria Aparecida Azevedo Koike Folgueira
Faculdade de Medicina da Universidade de Sao Paulo, Departamento de Radiologia, Disciplina de Oncologia, Sao Paulo, SP, Brasil
Oncol Rep 22:805-13. 2009
..CTGF and DUSP1 overexpression in residual samples may be a reflection of resistance to further administration of AC regimen...
- Multiple mutations in the Kras gene in colorectal cancer: review of the literature with two case reports
Mariana Petaccia Macedo
Department of Pathology, Hospital A C Camargo, Sao Paulo, Brazil
Int J Colorectal Dis 26:1241-8. 2011
..Few data exist on MMs with regard to their frequency and the codons and amino acids that are affected. We report two cases of Kras double mutations in codons 12 and 13 and review Kras MMs in primary CRC in PubMed databases...
- Down-regulation of ANAPC13 and CLTCL1: Early Events in the Progression of Preinvasive Ductal Carcinoma of the Breast
Laboratory of Genomics and Molecular Biology, International Center of Research and Teaching, A C Camargo Hospital, Sao Paulo, SP, Brazil
Transl Oncol 5:113-23. 2012
..1-1q32.1), 8q, and 17q (17q24.2), regions that display common imbalances in breast tumors, suggesting that down-regulation of ANAPC13 contributes to genomic instability in this disease...
- Mismatch repair genes in Lynch syndrome: a review
Felipe Cavalcanti Carneiro da Silva
Hospital AC Camargo, Sao Paulo, Brazil
Sao Paulo Med J 127:46-51. 2009