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List of works by Maria Isabel Achatz

(18)F-FDG PET-CT for Surveillance of Brazilian Patients with Li-Fraumeni Syndrome

scientific article

A Set of miRNAs, Their Gene and Protein Targets and Stromal Genes Distinguish Early from Late Onset ER Positive Breast Cancer

scientific article

A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes

scientific article

Ancestry of the Brazilian TP53 c.1010G>A (p.Arg337His, R337H) Founder Mutation: Clues from Haplotyping of Short Tandem Repeats on Chromosome 17p.

scientific article published on 30 November 2015

Brazilian health-care policy for targeted oncology therapies and companion diagnostic testing

scientific article

Cancer Screening Recommendations and Clinical Management of Inherited Gastrointestinal Cancer Syndromes in Childhood

scientific article published on July 2017

Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome

scientific article

Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.

scientific article published on 17 December 2015

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

scientific article published on June 2017

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".

scientific article published on 27 April 2016

Comprehensive analysis of BRCA1, BRCA2 and TP53 germline mutation and tumor characterization: a portrait of early-onset breast cancer in Brazil

scientific article

Contribution of rare germline copy number variations and common susceptibility loci in Lynch syndrome patients negative for mutations in the mismatch repair genes

article

DNA Methylation Levels of Melanoma Risk Genes Are Associated with Clinical Characteristics of Melanoma Patients

scientific article

DNA methylation patterns of candidate genes regulated by thymine DNA glycosylase in patients with TP53 germline mutations.

scientific article published on 28 April 2015

Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect.

scientific article published on February 2010

Detection of R337H, a germline TP53 mutation predisposing to multiple cancers, in asymptomatic women participating in a breast cancer screening program in Southern Brazil

article

Early-onset breast cancer patients in the South and Southeast of Brazil should be tested for the TP53 p.R337H mutation

scientific article published on 24 May 2016

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

scientific article published on 19 January 2017

Gastric cancer in individuals with Li-Fraumeni syndrome

scientific article published on July 2011

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

scientific article

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

scientific article published on 19 March 2015

Germline BAX deletion in a patient with melanoma and gastrointestinal stromal tumor

scientific article published in August 2013

Germline CDKN2A mutations in Brazilian patients of hereditary cutaneous melanoma

scientific article

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

scientific article

Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer

scientific article published on 20 May 2020

Germline large genomic alterations on 7q in patients with multiple primary cancers.

scientific article published on 31 January 2017

HABP2 p.G534E variant in patients with family history of thyroid and breast cancer

scientific article published on 29 March 2017

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

scientific article published in September 2009

Integration of genomics in cancer care

scientific article published on 07 January 2013

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation

scientific article published on 22 July 2010

Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium

scientific article published on 29 August 2012

Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion

scientific article

Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients.

scientific article published on 5 April 2013

Neoadjuvant Chemotherapy Followed by Interval Debulking Surgery and the Risk of Platinum Resistance in Epithelial Ovarian Cancer

scientific article published on 27 May 2015

Number of rare germline CNVs and TP53 mutation types ⬇️

scientific article published on December 21, 2012

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

scientific article published on 24 February 2016

PTEN, DICER1, FH, and Their Associated Tumor Susceptibility Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood.

scientific article

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

scientific article published on 29 July 2019

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

scientific article

ROBO1 deletion as a novel germline alteration in breast and colorectal cancer patients

scientific article published on 01 October 2015

Rare germline alterations in cancer-related genes associated with the risk of multiple primary tumor development.

scientific article published on 16 January 2017

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

scientific article published on 07 January 2016

Revisiting tumor patterns and penetrance in germline TP53 mutation carriers: temporal phases of Li-Fraumeni syndrome.

scientific article

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

scientific article

TP53 PIN3 and MDM2 SNP309 polymorphisms as genetic modifiers in the Li-Fraumeni syndrome: impact on age at first diagnosis.

scientific article published on 18 June 2009

TP53 mutation p.R337H in gastric cancer tissues of a 12-year-old male child: evidence for chimerism involving a common mutant founder haplotype: case report

scientific article

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

scientific article published on 01 August 2018

The Inherited p53 Mutation in the Brazilian Population.

scientific article published on 23 September 2016

The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families.

scientific article published on 21 February 2006

The Value of Secondary Cytoreductive Surgery in Recurrent Ovarian Cancer and Application of a Prognostic Score

scientific article published on 29 January 2016

The breast cancer immunophenotype of TP53-p.R337H carriers is different from that observed among other pathogenic TP53 mutation carriers

scientific article

Tumor protein 53 mutations and inherited cancer: beyond Li-Fraumeni syndrome.

scientific article published on January 2010

Whole-body magnetic resonance imaging of Li-Fraumeni syndrome patients: observations from a two rounds screening of Brazilian patients

article

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