Maria Isabel Achatz

Maria Isabel Achatz

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Maria Isabel Achatz

Maria Isabel Achatz

Publications by authors named "Maria Isabel Achatz"

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MIR605 rs2043556 is associated with the occurrence of multiple primary tumors in TP53 p.(Arg337His) mutation carriers.

Cancer Genet 2020 Jan 20;240:54-58. Epub 2019 Nov 20.

Post-Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Rio Grande do Sul, Brazil; Genomic Medicine Laboratory, Experimental Research Center, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil; Medical Genetics Service, HCPA, Porto Alegre, Rio Grande do Sul, Brazil; Department of Genetics, UFRGS, Porto Alegre, Rio Grande do Sul, Brazil.

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http://dx.doi.org/10.1016/j.cancergen.2019.11.005DOI Listing
January 2020

Reproductive factors associated with breast cancer risk in Li-Fraumeni syndrome.

Eur J Cancer 2019 Jul 15;116:199-206. Epub 2019 Jun 15.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, 9609, Medical Center Drive, MSC 9772, Bethesda, 20892, USA; Centro de Oncologia, Hospital Sirio-Libanes, Rua Dona Adma Jafet, 115- Bela Vista, Sao Paulo, Brazil.

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http://dx.doi.org/10.1016/j.ejca.2019.05.005DOI Listing
July 2019

Pheochromocytoma and paraganglioma: implications of germline mutation investigation for treatment, screening, and surveillance.

Arch Endocrinol Metab 2019 Jul 29;63(4):369-375. Epub 2019 Jul 29.

Departamento de Oncogenética, A.C. Camargo Cancer Center, São Paulo, SP, Brasil.

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http://dx.doi.org/10.20945/2359-3997000000145DOI Listing
July 2019

Couples coping with screening burden and diagnostic uncertainty in Li-Fraumeni syndrome: Connection versus independence.

J Psychosoc Oncol 2019 Mar-Apr;37(2):178-193. Epub 2018 Dec 28.

a Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics , National Cancer Institute , Rockville , Maryland , USA.

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http://dx.doi.org/10.1080/07347332.2018.1543376DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6584025PMC
December 2018

Testing Positive on a Multigene Panel Does Not Suffice to Determine Disease Risks.

J Natl Cancer Inst 2018 08;110(8):797-798

Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD.

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http://dx.doi.org/10.1093/jnci/djy008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6279260PMC
August 2018

The germline mutational landscape of BRCA1 and BRCA2 in Brazil.

Sci Rep 2018 06 15;8(1):9188. Epub 2018 Jun 15.

Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

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http://dx.doi.org/10.1038/s41598-018-27315-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6003960PMC
June 2018

Higher-than-expected population prevalence of potentially pathogenic germline TP53 variants in individuals unselected for cancer history.

Hum Mutat 2017 12 21;38(12):1723-1730. Epub 2017 Sep 21.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/humu.23320DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6858060PMC
December 2017

Frequency of Thyroid Carcinoma in Brazilian TP53 p.R337H Carriers With Li Fraumeni Syndrome.

JAMA Oncol 2017 Oct;3(10):1400-1402

Division of Cancer Epidemiology and Genetics, National Cancer Institute/National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1001/jamaoncol.2016.6389DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5824314PMC
October 2017

Clinical Management and Tumor Surveillance Recommendations of Inherited Mismatch Repair Deficiency in Childhood.

Clin Cancer Res 2017 Jun;23(11):e32-e37

Child and Adolescent Cancer Department, Gustave Roussy Cancer Campus, Villejuif, France.

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http://dx.doi.org/10.1158/1078-0432.CCR-17-0574DOI Listing
June 2017

The Inherited p53 Mutation in the Brazilian Population.

Cold Spring Harb Perspect Med 2016 Dec 1;6(12). Epub 2016 Dec 1.

Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105.

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http://dx.doi.org/10.1101/cshperspect.a026195DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5131754PMC
December 2016

Genome-Wide DNA Methylation Analysis Reveals Epigenetic Dysregulation of MicroRNA-34A in TP53-Associated Cancer Susceptibility.

J Clin Oncol 2016 Oct;34(30):3697-3704

Nardin Samuel, Gavin Wilson, James Tran, Meredith Irwin, Rosanna Weksberg, Thomas J. Hudson, and David Malkin, University of Toronto; Nardin Samuel, Badr Id Said, Youliang Lou, Weili Li, Ana Novokmet, James Tran, Sanaa Choufani, Marc Remke, Vijay Ramaswamy, Florence M.G. Cavalli, Michael D. Taylor, Uri Tabori, Meredith Irwin, Rosanna Weksberg, Jonathan D. Wasserman, Andrew D. Paterson, and David Malkin, The Hospital for Sick Children; Nardin Samuel, Gavin Wilson, Mathieu Lemire, and Thomas J. Hudson, Ontario Institute for Cancer Research; Christine Elser, Princess Margaret Cancer Centre, Toronto, Ontario, Canada; Diana Merino, National Institutes of Health, Bethesda, MD; Kim E. Nichols, St Jude Children's Research Hospital, Memphis, TN; Jonathan L. Finlay, Nationwide Children's Hospital, Columbus, OH; Lynn Meister, Joe DiMaggio Children's Hospital, Hollywood, FL; Jordan R. Hansford, Children's Cancer Centre, Royal Children's Hospital, Melbourne, Victoria, Australia; and Maria Isabel W. Achatz, Hospital AC Camargo, São Paulo, Brazil.

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http://dx.doi.org/10.1200/JCO.2016.67.6940DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6366343PMC
October 2016

Role of rare germline copy number variation in melanoma-prone patients.

Future Oncol 2016 Jun 29;12(11):1345-57. Epub 2016 Mar 29.

Department of Genetics & Evolutionary Biology, Institute of Biosciences, University of São Paulo, Brazil.

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http://dx.doi.org/10.2217/fon.16.22DOI Listing
June 2016

Commentary regarding Schayek et al., entitled "The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil".

Cancer Genet 2016 06 27;209(6):282-3. Epub 2016 Apr 27.

Post-Graduate Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul (UFRGS), Brazil; Genomic Medicine Laboratory, Hospital of Porto Alegre (HCPA), Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.cancergen.2016.04.002DOI Listing
June 2016

Rare germline variant (rs78378222) in the TP53 3' UTR: Evidence for a new mechanism of cancer predisposition in Li-Fraumeni syndrome.

Cancer Genet 2016 Mar 7;209(3):97-106. Epub 2016 Jan 7.

Post-Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, 15053, Rio Grande do Sul, Brazil; Genomic Medicine Laboratory, Experimental Research Center, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, 1247, Rio Grande do Sul, Brazil; Department of Genetics, UFRGS, Porto Alegre, 15053, Rio Grande do Sul, Brazil; Medical Genetics Service, HCPA, Porto Alegre, 1247, Rio Grande do Sul, Brazil.

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http://dx.doi.org/10.1016/j.cancergen.2015.12.012DOI Listing
March 2016

Oral and maxillofacial considerations in Gardner's syndrome: a report of two cases.

Ecancermedicalscience 2016 24;10:623. Epub 2016 Feb 24.

Department of Stomatology, A. C. Camargo Cancer Centre, São Paulo, SP 01509-900, Brazil; Department of Stomatology, São Paulo University, São Paulo, SP 01509-900, Brazil.

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http://dx.doi.org/10.3332/ecancer.2016.623DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4778692PMC
March 2016

Xeroderma pigmentosum: low prevalence of germline XPA mutations in a Brazilian XP population.

Int J Mol Sci 2015 Apr 22;16(4):8988-96. Epub 2015 Apr 22.

Department of Oncogenetics, A.C. Camargo Cancer Center, São Paulo, SP 01509-900, Brazil.

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http://dx.doi.org/10.3390/ijms16048988DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4425119PMC
April 2015

Prevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil.

PLoS One 2014 17;9(6):e99893. Epub 2014 Jun 17.

Genomic Medicine Laboratory, Experimental Research Centre, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Rio Grande do Sul, Brazil; Post-Graduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Rio Grande do Sul, Brazil; National Institute of Populational Medical Genetics (INAGEMP), UFRGS, Porto Alegre, Rio Grande do Sul, Brazil; Post-Graduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre, Rio Grande do Sul, Brazil.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0099893PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4061038PMC
February 2015

Genome-wide DNA methylation profile of leukocytes from melanoma patients with and without CDKN2A mutations.

Exp Mol Pathol 2014 Dec 16;97(3):425-32. Epub 2014 Sep 16.

International Center for Research, A. C. Camargo Cancer Center, Sao Paulo, Brazil; Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of Sao Paulo, Sao Paulo, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.yexmp.2014.09.009DOI Listing
December 2014

Whole-genome sequencing analysis of phenotypic heterogeneity and anticipation in Li-Fraumeni cancer predisposition syndrome.

Proc Natl Acad Sci U S A 2014 Oct 13;111(43):15497-501. Epub 2014 Oct 13.

Rutgers Cancer Institute of New Jersey, New Brunswick, NJ 08901; Department of Medicine, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ 08903

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http://dx.doi.org/10.1073/pnas.1417322111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4217424PMC
October 2014

The profile and contribution of rare germline copy number variants to cancer risk in Li-Fraumeni patients negative for TP53 mutations.

Orphanet J Rare Dis 2014 Apr 28;9:63. Epub 2014 Apr 28.

Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, Rua do Matão, 277-05422-970 São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1186/1750-1172-9-63DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4022048PMC
April 2014

Integration of genomics in cancer care.

J Nurs Scholarsh 2013 Mar 7;45(1):43-51. Epub 2013 Jan 7.

Hospital A.C. Camargo, CIPE - Center for Research and Teaching, and National Institute of Oncogenomics, Sao Paulo, Brazil.

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http://dx.doi.org/10.1111/j.1547-5069.2012.01465.xDOI Listing
March 2013

Germline DNA copy number variation in familial and early-onset breast cancer.

Breast Cancer Res 2012 Feb 7;14(1):R24. Epub 2012 Feb 7.

National Institute of Science and Technology in Oncogenomics, AC Camargo Hospital, Rua Taguá 440, 01508-010, São Paulo, Brazil.

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http://dx.doi.org/10.1186/bcr3109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3496142PMC
February 2012

Highly prevalent TP53 mutation predisposing to many cancers in the Brazilian population: a case for newborn screening?

Lancet Oncol 2009 Sep;10(9):920-5

Department of Oncogenetics, Hospital AC Camargo and National Institute of Science and Technology in Oncogenomics, São Paulo, Brazil.

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http://dx.doi.org/10.1016/S1470-2045(09)70089-0DOI Listing
September 2009