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National Institute of Oncogenomics

Grant number: 08/57887-9
Support type:Research Projects - Thematic Grants
Duration: March 01, 2009 - February 28, 2015
Field of knowledge:Health Sciences - Medicine
Cooperation agreement: CNPq - INCTs
Principal Investigator:Luiz Paulo Kowalski
Grantee:Luiz Paulo Kowalski
Home Institution: A C Camargo Cancer Center. Fundação Antonio Prudente (FAP). São Paulo , SP, Brazil
Associated grant(s):13/02268-0 - Identification of genomic alterations associated with the axillary breast cancer metastatic process using exome sequencing, AV.EXT
Associated scholarship(s):11/11085-1 - Predictive biomarkers in oropharynx squamous cell carcinoma, BP.PD
11/07742-7 - Genomic changes in patients and their relatives with hereditary colorectal cancer syndrome, BP.DR
10/15901-5 - Evaluation of genomic copy number variation of genes that predispose patients with hereditary breast and colorrectal cancer syndrome screened for mutations in BRCA1, BRCA2, TP53 and CHEK2, BP.DD
09/08888-5 - Genomic screening in Li-Fraumeni and Li-Fraumeni like families with unknown causes, BP.PD
09/02457-2 - Involvement of splicing variants of TRIM37, BRRN1 and MK-STYX genes in breast cancer, BP.PD

Abstract

The mission of the National Institute of Oncogenomics is to fight cancer by applying the most innovative concepts and technologies. The proposed project is intended to make us the best integrated oncological research, treatment and teaching center in Latin America. The present project intends to have a more comprehensive approach to study the most frequent cancers in our population, namely prostate, breast, and colorectal. For that, we will: (1) investigate the germinative changes in DNA (copy number of DNA sequences) underlying familial cancer, as a less noisy and complex model than tumors; (2) extend these findings by large-scale sequencing in family and sporadic tumors; (3) examine intronic and exonic alterations of expression in such malignancies; (4) test new approaches for improved image detection of tumors; (5) identify response markers to neoadjuvant chemotherapy; (6) evaluate the potential of the protein F8 as a healing agent. The efficiency and need of more comprehensive approaches than previous large cancer-genomics studies, simultaneously analyzing genetic sequences, copy-number variations, expression arrays and other forms of data was emphasized in the latest editorial from Nature (Nature 455, 138, from September 11, 2008). The editorial refers to the new statistical power in three studies released in the week before. Taken together, the results show that no single mutated gene Iies at the heart of any of the investigated tumors, but analyses based on the Genome Atlas revealed a quite limited number of pathways involved (12 in pancreatic cancer and just 3 in glioblastomas). So drugs targeting these pathways might work in more patients than drugs that target only one of a pathway's components. The editorial also points out those funding agencies will need to do many more such studies on many more types of cancer. Untangling the immense complexity of cancer will be big science by anyone's definition, requiring a long-term commitment and enormous amounts of data. (AU)

Scientific publications (45)
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
DO CANTO, LUISA MATOS; CURY, SARAH SANTILONI; BARROS-FILHO, MATEUS CAMARGO; CATIN KUPPER, BRUNA ELISA; FERREIRA DE SOUZA BEGNAMI, MARIA DIRLEI; SCAPULATEMPO-NETO, CRISTOVAM; CARVALHO, ROBSON FRANCISCO; MARCHI, FABIO ALBUQUERQUE; OLSEN, DORTE AALUND; MADSEN, JONNA SKOV; HAVELUND, BIRGITTE MAYLAND; AGUIAR, JR., SAMUEL; ROGATTO, SILVIA REGINA. Locally advanced rectal cancer transcriptomic-based secretome analysis reveals novel biomarkers useful to identify patients according to neoadjuvant chemoradiotherapy response. SCIENTIFIC REPORTS, v. 9, JUN 18 2019. Web of Science Citations: 1.
LOPEZ LAPA, RAINER MARCO; BARROS-FILHO, MATEUS CAMARGO; MARCHI, FABIO ALBUQUERQUE; CUSTODIO DOMINGUES, MARIA APARECIDA; DE CARVALHO, GENIVAL BARBOSA; DRIGO, SANDRA APARECIDA; KOWALSKI, LUIZ PAULO; ROGATTO, SILVIA REGINA. Integrated miRNA and mRNA expression analysis uncovers drug targets in laryngeal squamous cell carcinoma patients. Oral Oncology, v. 93, p. 76-84, JUN 2019. Web of Science Citations: 0.
DO CANTO, LUISA MATOS; LARSEN, SIMON J.; CATIN KUPPER, BRUNA E.; FERREIRA DE SOUZA BEGNAMI, MARIA DIRLEI; SCAPULATEMPO-NETO, CRISTOVAM; PETERSEN, ANNABETH HOGH; AAGAARD, MADS M.; BAUMBACH, JAN; AGUIAR JR, SAMUEL; ROGATTO, SILVIA R. Increased Levels of Genomic Instability and Mutations in Homologous Recombination Genes in Locally Advanced Rectal Carcinomas. FRONTIERS IN ONCOLOGY, v. 9, MAY 14 2019. Web of Science Citations: 0.
DA COSTA, ALEXANDRE A. B. A.; DO CANTO, LUISA M.; LARSEN, SIMON JONAS; GONCALVES RIBEIRO, ADRIANA REGINA; STECCA, CARLOS EDUARDO; PETERSEN, ANNABETH HOGH; AAGAARD, MADS M.; DE BROT, LOUISE; BAUMBACH, JAN; BAIOCCHI, GLAUCO; ACHATZ, MARIA ISABEL; ROGATTO, SILVIA REGINA. Genomic profiling in ovarian cancer retreated with platinum based chemotherapy presented homologous recombination deficiency and copy number imbalances of CCNE1 and RB1 genes. BMC CANCER, v. 19, MAY 6 2019. Web of Science Citations: 0.
TORREZAN, GIOVANA T.; DE ALMEIDA, FERNANDA G. DOS SANTOS R.; FIGUEIREDO, MARCIA C. P.; DE FIGUEIREDO BARROS, BRUNA D.; DE PAULA, CLAUDIA A. A.; VALIERIS, RENAN; DE SOUZA, JORGE E. S.; RAMALHO, RODRIGO F.; DA SILVA, FELIPE C. C.; FERREIRA, ELISA N.; DE NOBREGA, AMANDA F.; FELICIO, PAULA S.; ACHATZ, MARIA I.; DE SOUZA, SANDRO J.; PALMERO, EDENIR I.; CARRARO, DIRCE M. Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer. FRONTIERS IN GENETICS, v. 9, MAY 7 2018. Web of Science Citations: 1.
STEVANATO FILHO, PAULO ROBERTO; AGUIAR JUNIOR, SAMUEL; BEGNAMI, MARIA DIRLEI; KUASNE, HELLEN; SPENCER, RANYELL MATHEUS; NAKAGAWA, WILSON TOSHIHIKO; BEZERRA, TIAGO SANTORO; KUPPER, BRUNA CATIN; TAKAHASHI, RENATA MAYMI; BARROS FILHO, MATEUS; ROGATTO, SILVIA REGINA; LOPES, ADEMAR. Oestrogen receptor beta isoform expression in sporadic colorectal cancer, familial adenomatous polyposis and progressive stages of colorectal cancer. BMC CANCER, v. 17, NOV 13 2017. Web of Science Citations: 1.
DOS REIS, MARIANA BISARRO; BARROS-FILHO, MATEUS CAMARGO; MARCHI, FABIO ALBUQUERQUE; BELTRAMI, CAROLINE MORAES; KUASNE, HELLEN; LOPES PINTO, CLOVIS ANTONIO; AMBATIPUDI, SRIKANT; HERCEG, ZDENKO; KOWALSKI, LUIZ PAULO; ROGATTO, SILVIA REGINA. Prognostic Classifier Based on Genome-Wide DNA Methylation Profiling in Well-Differentiated Thyroid Tumors. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 102, n. 11, p. 4089-4099, NOV 1 2017. Web of Science Citations: 11.
DE SOUZA, MARILESIA FERREIRA; KUASNE, HELLEN; BARROS-FILHO, MATEUS DE CAMARGO; CILIAO, HELOISA LIZOTTI; MARCHI, FABIO ALBUQUERQUE; FUGANTI, PAULO EMILIO; PASCHOAL, ALEXANDRE ROSSI; ROGATTO, SILVIA REGINA; DE SYLLOS COLUS, ILCE MARA. Circulating mRNAs and miRNAs as candidate markers for the diagnosis and prognosis of prostate cancer. PLoS One, v. 12, n. 9 SEP 14 2017. Web of Science Citations: 22.
LUBOV, JOSHUA; MASCHIETTO, MARIANA; IBRAHIM, IMAN; MLYNAREK, ALEX; HIER, MICHAEL; KOWALSKI, LUIZ PAULO; ALAOUI-JAMALI, MOULAY A.; DA SILVA, SABRINA DANIELA. Meta-analysis of micrornas expression in head and neck cancer: uncovering association with outcome and mechanisms. ONCOTARGET, v. 8, n. 33, p. 55511-55524, AUG 2017. Web of Science Citations: 9.
BELTRAMI, CAROLINE MORAES; DOS REIS, MARIANA BISARRO; BARROS-FILHO, MATEUS CAMARGO; MARCHI, FABIO ALBUQUERQUE; KUASNE, HELLEN; LOPES PINTO, CLOVIS ANTONIO; AMBATIPUDI, SRIKANT; HERCEG, ZDENKO; KOWALSKI, LUIZ PAULO; ROGATTO, SILVIA REGINA. Integrated data analysis reveals potential drivers and pathways disrupted by DNA methylation in papillary thyroid carcinomas. CLINICAL EPIGENETICS, v. 9, MAY 2 2017. Web of Science Citations: 15.
VILLACIS, ROLANDO A. R.; BASSO, TATIANE R.; CANTO, LUISA M.; PINHEIRO, MAISA; SANTIAGO, KARINA M.; GIACOMAZZI, JULIANA; DE PAULA, CLAUDIA A. A.; CARRARO, DIRCE M.; ASHTON-PROLLA, PATRICIA; ACHATZ, MARIA I.; ROGATTO, SILVIA R. Rare germline alterations in cancer-related genes associated with the risk of multiple primary tumor development. JOURNAL OF MOLECULAR MEDICINE-JMM, v. 95, n. 5, p. 523-533, MAY 2017. Web of Science Citations: 1.
VILLACIS, R. A. R.; BASSO, T. R.; CANTO, L. M.; NOBREGA, A. F.; ACHATZ, M. I.; ROGATTO, S. R. Germline large genomic alterations on 7q in patients with multiple primary cancers. SCIENTIFIC REPORTS, v. 7, JAN 31 2017. Web of Science Citations: 0.
FIDALGO, FELIPE; RODRIGUES, TATIANE CRISTINA; SILVA, AMANDA GONCALVES; FACURE, LUCIANA; SOARES DE SA, BIANCA COSTA; DUPRAT, JOAO PEDREIRA; ACHATZ, MARIA ISABEL; ROSENBERG, CARLA; CARRARO, DIRCE MARIA; VICTORINO KREPISCHI, ANA CRISTINA. Role of rare germline copy number variation in melanoma-prone patients. FUTURE ONCOLOGY, v. 12, n. 11, p. 1345-1357, JUN 2016. Web of Science Citations: 1.
VILLACIS, ROLANDO A. R.; MIRANDA, PRISCILA M.; GOMY, ISRAEL; SANTOS, ERIKA M. M.; CARRARO, DIRCE M.; ACHATZ, MARIA I.; ROSSI, BENEDITO M.; ROGATTO, SILVIA R. Contribution of rare germline copy number variations and common susceptibility loci in Lynch syndrome patients negative for mutations in the mismatch repair genes. International Journal of Cancer, v. 138, n. 8, p. 1928-1935, APR 15 2016. Web of Science Citations: 8.
VILLACIS, ROLANDO A. R.; ABREU, FRANCINE B.; MIRANDA, PRISCILA M.; DOMINGUES, MARIA A. C.; CARRARO, DIRCE M.; SANTOS, ERIKA M. M.; ANDRADE, VICTOR P.; ROSSI, BENEDITO M.; ACHATZ, MARIA I.; ROGATTO, SILVIA R. ROBO1 deletion as a novel germline alteration in breast and colorectal cancer patients. TUMOR BIOLOGY, v. 37, n. 3, p. 3145-3153, MAR 2016. Web of Science Citations: 6.
DA SILVA, FELIPE CARNEIRO; DE OLIVEIRA FERREIRA, JOSE ROBERTO; TORREZAN, GIOVANA TARDIN; PENA FIGUEIREDO, MARCIA CRISTINA; MONTEIRO SANTOS, ERIKA MARIA; NAKAGAWA, WILSON TOSHIHIKO; BRIANESE, RAFAEL CANFIELD; DE OLIVEIRA, LIGIA PETROLINI; BEGNANI, MARIA DIRLEI; AGUIAR-JUNIOR, SAMUEL; ROSSI, BENEDITO MAURO; FERREIRA, FABIO DE OLIVEIRA; CARRARO, DIRCE MARIA. Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome. PLoS One, v. 10, n. 10 OCT 5 2015. Web of Science Citations: 12.
DA SILVA, SABRINA DANIELA; MARCHI, FABIO ALBUQUERQUE; XU, BIN; BIJIAN, KRIKOR; ALOBAID, FAISAL; MLYNAREK, ALEX; ROGATTO, SILVIA REGINA; HIER, MICHAEL; KOWALSKI, LUIZ PAULO; ALAOUI-JAMALI, MOULAY A. Predominant Rab-GTPase amplicons contributing to oral squamous cell carcinoma progression to metastasis. ONCOTARGET, v. 6, n. 26, p. 21950-21963, SEP 8 2015. Web of Science Citations: 11.
BARROS-FILHO, MATEUS CAMARGO; MARCHI, FABIO ALBUQUERQUE; PINTO, CLOVIS ANTONIO; ROGATTO, SILVIA REGINA; KOWALSKI, LUIZ PAULO. High Diagnostic Accuracy Based on CLDN10, HMGA2, and LAMB3 Transcripts in Papillary Thyroid Carcinoma. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 100, n. 6, p. E890-E899, JUN 2015. Web of Science Citations: 19.
BASSO, TATIANE R.; VILLACIS, ROLANDO A. R.; CANTO, LUISA M.; ALVES, VINICIUS M. F.; LAPA, RAINER M. L.; NOBREGA, AMANDA F.; ACHATZ, MARIA I.; ROGATTO, SILVIA R. Genomic profile of a Li-Fraumeni-like syndrome patient with a 45,X/46,XX karyotype, presenting neither mutations in TP53 nor clinical stigmata of Turner syndrome. CANCER GENETICS, v. 208, n. 6, p. 341-344, JUN 2015. Web of Science Citations: 2.
SANTIAGO, KARINA MIRANDA; DE NOBREGA, AMANDA FRANCA; ROCHA, RAFAEL MALAGOLI; ROGATTO, SILVIA REGINA; ACHATZ, MARIA ISABEL. Xeroderma Pigmentosum: Low Prevalence of Germline XPA Mutations in a Brazilian XP Population. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, v. 16, n. 4, p. 8988-8996, APR 2015. Web of Science Citations: 3.
FIDALGO, FELIPE; RODRIGUES, TATIANE CRISTINA; PINILLA, MABEL; SILVA, AMANDA GONCALVES; DO SOCORRO MACIEL, MARIA; ROSENBERG, CARLA; DE ANDRADE, VICTOR PIANA; CARRARO, DIRCE MARIA; VICTORINO KREPISCHI, ANA CRISTINA. Lymphovascular invasion and histologic grade are associated with specific genomic profiles in invasive carcinomas of the breast. TUMOR BIOLOGY, v. 36, n. 3, p. 1835-1848, MAR 2015. Web of Science Citations: 9.
BERTONHA, FERNANDA BERNARDI; BARROS FILHO, MATEUS DE CAMARGO; KUASNE, HELLEN; DOS REIS, PATRICIA PINTOR; PRANDO, ERIKA DA COSTA; AUGUSTO MOYANO MUNOZ, JUAN JOSE; ROFFE, MARTIN; MAROSO HAJJ, GLAUCIA NOELI; KOWALSKI, LUIZ PAULO; RAINHO, CLAUDIA APARECIDA; ROGATTO, SILVIA REGINA. PHF21B as a candidate tumor suppressor gene in head and neck squamous cell carcinomas. MOLECULAR ONCOLOGY, v. 9, n. 2, p. 450-462, FEB 2015. Web of Science Citations: 5.
RIBEIRO DE AVILA, ALEXANDRE LEON; VICTORINO KREPISCHI, ANA CRISTINA; MOREDO, LUCIANA FACURE; MARQUES AGUIAR, TALITA FERREIRA; DA SILVA, FELIPE CARNEIRO; SOARES DE SA, BIANCA COSTA; DE NOBREGA, AMANDA FRANCA; WADDINGTON ACHATZ, MARIA ISABEL; DUPRAT, JOAO PEDREIRA; LANDMAN, GILLES; CARRARO, DIRCE MARIA. Germline CDKN2A mutations in Brazilian patients of hereditary cutaneous melanoma. FAMILIAL CANCER, v. 13, n. 4, p. 645-649, DEC 2014. Web of Science Citations: 7.
SOUZA DE ARAUJO, ERICA SARA; MARCHI, FABIO ALBUQUERQUE; RODRIGUES, TATIANE CRISTINA; VIEIRA, HENRIQUE CURSINO; KUASNE, HELLEN; WADDINGTON ACHATZ, MARIA ISABEL; MOREDO, LUCIANA FACURE; SOARES DE SA, BIANCA COSTA; DUPRAT, JOAO PEREIRA; BRENTANI, HELENA PAULA; ROSENBERG, CARLA; CARRARO, DIRCE MARIA; VICTORINO KREPISCHI, ANA CRISTINA. Genome-wide DNA methylation profile of leukocytes from melanoma patients with and without CDKN2A mutations. Experimental and Molecular Pathology, v. 97, n. 3, p. 425-432, DEC 2014. Web of Science Citations: 3.
FIDALGO, FELIPE; GOMES, ELIMAR ELIAS; FACURE, LUCIANA MOREDO; DA SILVA, FELIPE CARNEIRO; CARRARO, DIRCE MARIA; SOARES DE SA, BIANCA COSTA; DUPRAT NETO, JOAO PEDREIRA; VICTORINO KREPISCHI, ANA CRISTINA. Association of melanoma with intraepithelial neoplasia of the pancreas in three patients. Experimental and Molecular Pathology, v. 97, n. 1, p. 144-147, AUG 2014. Web of Science Citations: 2.
VICTORINO KREPISCHI, ANA CRISTINA; CAPELLI, LEONARDO PIRES; SILVA, AMANDA GONCALVES; SOUZA DE ARAUJO, ERICA SARA; PEARSON, PETER LEES; HECK, BENJAMIN; LIMA DA COSTA, CECILIA MARIA; DE CAMARGO, BEATRIZ; ROSENBERG, CARLA. Large germline copy number variations as predisposing factor in childhood neoplasms. FUTURE ONCOLOGY, v. 10, n. 9, p. 1627-1633, JUL 2014. Web of Science Citations: 3.
NORONHA FRANCISCO, ANA LUCIA; CORRER, WAGNER RAFAEL; AZEVEDO, LUCIANE HIRAMATSU; KERN, VIVIAN GALLETTA; LOPES PINTO, CLOVIS ANTONIO; KOWALSKI, LUIZ PAULO; KURACHI, CRISTINA. Fluorescence spectroscopy for the detection of potentially malignant disorders and squamous cell carcinoma of the oral cavity. Photodiagnosis and Photodynamic Therapy, v. 11, n. 2, p. 82-90, JUN 2014. Web of Science Citations: 8.
SILVA, FELIPE C.; LISBOA, BIANCA C. G.; FIGUEIREDO, MARCIA C. P.; TORREZAN, GIOVANA T.; SANTOS, ERIKA M. M.; KREPISCHI, ANA C.; ROSSI, BENEDITO M.; ACHATZ, MARIA I.; CARRARO, DIRCE M. Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients. BMC MEDICAL GENETICS, v. 15, MAY 15 2014. Web of Science Citations: 26.
SILVA, AMANDA G.; KREPISCHI, ANA C. V.; PEARSON, PETER L.; HAINAUT, PIERRE; ROSENBERG, CARLA; ACHATZ, MARIA ISABEL. The profile and contribution of rare germline copy number variants to cancer risk in Li-Fraumeni patients negative for TP53 mutations. ORPHANET JOURNAL OF RARE DISEASES, v. 9, APR 28 2014. Web of Science Citations: 8.
RIBEIRO OLIVIERI, ELOISA HELENA; FRANCO, LUANA DE ANDRADE; PEREIRA, RAFAEL GOMES; CARVALHO MOTA, LOUISE DANIELLE; CAMPOS, ANTONIO HUGO J. F. M.; CARRARO, DIRCE MARIA. Biobanking Practice: RNA Storage at Low Concentration Affects Integrity. BIOPRESERVATION AND BIOBANKING, v. 12, n. 1, p. 46-52, FEB 1 2014. Web of Science Citations: 24.
BUENO, R. C.; CANEVARI, R. A.; VILLACIS, R. A. R.; DOMINGUES, M. A. C.; CALDEIRA, J. R. F.; ROCHA, R. M.; DRIGO, S. A.; ROGATTO, S. R. ATM down-regulation is associated with poor prognosis in sporadic breast carcinomas. Annals of Oncology, v. 25, n. 1, p. 69-75, JAN 2014. Web of Science Citations: 30.
CARRARO, DIRCE M.; ELIAS, ELIANA V.; ANDRADE, VICTOR P. Ductal carcinoma in situ of the breast: morphological and molecular features implicated in progression. BIOSCIENCE REPORTS, v. 34, n. 1, p. 18-27, 2014. Web of Science Citations: 0.
SILVA, AMANDA GONCALVES; MASCHIETTO, MARIANA; VIDAL, DANIEL ONOFRE; PELICARIO, LEANDRO MOTA; PEREIRA VELLOSO, ELVIRA DEOLINDA RODRIGUES; LOPES, LUIZ FERNANDO; KREPISCHI, ANA CRISTINA; ROSENBERG, CARLA. Array-CGH as an adjuvant tool in cytogenetic diagnosis of pediatric MDS and JMML. MEDICAL ONCOLOGY, v. 30, n. 4 DEC 2013. Web of Science Citations: 2.
IHLASEH-CATALANO, SHADIA M.; DRIGO, SANDRA A.; DE JESUS, CARLOS M. N.; DOMINGUES, MARIA APARECIDA C.; TRINDADE FILHO, JOSE CARLOS S.; DE CAMARGO, JOAO LAURO V.; ROGATTO, SILVIA R. STEAP1 protein overexpression is an independent marker for biochemical recurrence in prostate carcinoma. Histopathology, v. 63, n. 5, p. 678-685, NOV 2013. Web of Science Citations: 15.
AMBROSIO, ELIANE PAPA; TERRASSANI SILVEIRA, CASSIA GISELE; DRIGO, SANDRA APARECIDA; SACOMANO, VIVIAN DE SOUZA; MOLCK, MIRIAM COELHO; ROCHA, RAFAEL MALAGOLI; CUSTODIO DOMINGUES, MARIA APARECIDA; SOARES, FERNANDO AUGUSTO; KOWALSKI, LUIZ PAULO; ROGATTO, SILVIA REGINA. Chromosomal imbalances exclusively detected in invasive front area are associated with poor outcome in laryngeal carcinomas from different anatomical sites. TUMOR BIOLOGY, v. 34, n. 5, p. 3015-3026, OCT 2013. Web of Science Citations: 4.
COUTINHO-CAMILLO, CLAUDIA MALHEIROS; LOURENCO, SILVIA VANESSA; NONOGAKI, SUELY; VARTANIAN, JOSE GUILHERME; NAGAI, MARIA APARECIDA; KOWALSKI, LUIZ PAULO; SOARES, FERNANDO AUGUSTO. Expression of PAR-4 and PHLDA1 is prognostic for overall and disease-free survival in oral squamous cell carcinomas. Virchows Archiv, v. 463, n. 1, p. 31-39, JUL 2013. Web of Science Citations: 10.
TORREZAN, GIOVANA TARDIN; CARNEIRO DA SILVA, FELIPE CAVALCANTI; MONTEIRO SANTOS, ERIKA MARIA; VICTORINO KREPISCHI, ANA CRISTINA; WADDINGTON ACHATZ, MARIA ISABEL; AGUIAR JUNIOR, SAMUEL; ROSSI, BENEDITO MAURO; CARRARO, DIRCE MARIA. Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients. ORPHANET JOURNAL OF RARE DISEASES, v. 8, APR 5 2013. Web of Science Citations: 3.
CARRARO, DIRCE MARIA; AZEVEDO KOIKE FOLGUEIRA, MARIA APARECIDA; GARCIA LISBOA, BIANCA CRISTINA; RIBEIRO OLIVIERI, ELOISA HELENA; VITORINO KREPISCHI, ANA CRISTINA; DE CARVALHO, ALEX FIORINI; DE CARVALHO MOTA, LOUISE DANIELLE; PUGA, RENATO DAVID; MACIEL, MARIA DO SOCORRO; DEPIERI MICHELLI, RODRIGO AUGUSTO; DE LYRA, EDUARDO CARNEIRO; GIORGI GROSSO, STANA HELENA; SOARES, FERNANDO AUGUSTO; DE SOUZA WADDINGTON ACHATZ, MARIA ISABEL ALVES; BRENTANI, HELENA; MOREIRA-FILHO, CARLOS ALBERTO; BRENTANI, MARIA MITZI. Comprehensive Analysis of BRCA1, BRCA2 and TP53 Germline Mutation and Tumor Characterization: A Portrait of Early-Onset Breast Cancer in Brazil. PLoS One, v. 8, n. 3 MAR 1 2013. Web of Science Citations: 41.
VALENTIN, MEV DOMINGUEZ; DA SILVA, FELIPE CARNEIRO; MONTEIRO SANTOS, ERIKA MARIA; DA SILVA, SABRINA DANIELA; FERREIRA, FABIO DE OLIVEIRA; AGUIAR JUNIOR, SAMUEL; GOMY, ISRAEL; VACCARO, CARLOS; ANA REDAL, MARIA; DELLA VALLE, ADRIANA; SARROCA, CARLOS; RASMUSSEN, LENE JUEL; CARRARO, DIRCE MARIA; ROSSI, BENEDITO MAURO. Evaluation of MLH1 I219V Polymorphism in Unrelated South American Individuals Suspected of Having Lynch Syndrome. ANTICANCER RESEARCH, v. 32, n. 10, p. 4347-4351, OCT 2012. Web of Science Citations: 7.
TORREZAN, GIOVANA TARDIN; CARNEIRO DA SILVA, FELIPE CAVALCANTI; VICTORINO KREPISCHI, ANA CRISTINA; MONTEIRO DOS SANTOS, ERIKA MARIA; ROSSI, BENEDITO MAURO; CARRARO, DIRCE MARIA. 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. BMC MEDICAL GENETICS, v. 13, JUL 16 2012. Web of Science Citations: 11.
SILVA, AMANDA GONCALVES; EWALD, INGRID PETRONI; SAPIENZA, MARINA; PINHEIRO, MANUELA; PEIXOTO, ANA; DE NOBREGA, AMANDA FRANA; CARRARO, DIRCE M.; TEIXEIRA, MANUEL R.; ASHTON-PROLLA, PATRICIA; ACHATZ, MARIA ISABEL W.; ROSENBERG, CARLA; KREPISCHI, ANA C. V. Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion. BMC CANCER, v. 12, JUN 12 2012. Web of Science Citations: 5.
VICTORINO KREPISCHI, ANA CRISTINA; PEARSON, PETER LEES; ROSENBERG, CARLA. Germline copy number variations and cancer predisposition. FUTURE ONCOLOGY, v. 8, n. 4, p. 441-450, APR 2012. Web of Science Citations: 42.
KREPISCHI‚ A.C.V.; ACHATZ‚ M.I.W.; SANTOS‚ E.M.M.; COSTA‚ S.S.; LISBOA‚ B.C.G.; BRENTANI‚ H.; SANTOS‚ T.M.; GONÇALVES‚ A.; NÓBREGA‚ A.F.; PEARSON‚ P.L.; OTHERS. Germline DNA copy number variation in familial and early-onset breast cancer. BREAST CANCER RESEARCH, v. 14, n. 1, p. R24, 2012. Web of Science Citations: 22.
VALENTIN, MEV DOMINGUEZ; DA SILVA, FELIPE CARNEIRO; MONTEIRO DOS SANTOS, ERIKA MARIA; LISBOA, BIANCA GARCIA; DE OLIVEIRA, LIGIA PETROLINI; FERREIRA, FABIO DE OLIVEIRA; GOMY, ISRAEL; NAKAGAWA, WILSON TOSHIHIKO; AGUIAR JUNIOR, SAMUEL; REDAL, MARIANA; VACCARO, CARLOS; DELLA VALLE, ADRIANA; SARROCA, CARLOS; CARRARO, DIRCE MARIA; ROSSI, BENEDITO MAURO. Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals. FAMILIAL CANCER, v. 10, n. 4, p. 641-647, DEC 2011. Web of Science Citations: 21.
TORREZAN, GIOVANA T.; DA SILVA, FELIPE C. C.; KREPISCHI, ANA C. V.; SANTOS, ERIKA M. M.; FERREIRA, FABIO DE O.; ROSSI, BENEDITO M.; CARRARO, DIRCE M. Breakpoint characterization of a novel large intragenic deletion of MUTYH detected in a MAP patient: Case report. BMC MEDICAL GENETICS, v. 12, SEP 30 2011. Web of Science Citations: 9.

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