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A TP53 founder mutation, p.R337H, is associated with phyllodes breast tumors in Brazil

article

A comprehensive analysis of core polyadenylation sequences and regulation by microRNAs in a set of cancer predisposition genes

scientific article published on 21 June 2019

A model to optimize public health care and downstage breast cancer in limited-resource populations in southern Brazil. (Porto Alegre Breast Health Intervention Cohort).

artículo científico publicado en 2009

A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.

artículo científico publicado en 2017

Abstract 1837: Clinical diversity and tumor spectrum in Xeroderma Pigmentosum Brazilian patients

article

Abstract 4282: GermlineTP53p.R337H mutations and Li-Fraumeni syndrome: A new variant form of the disease

Additive effect of RET polymorphisms on sporadic medullary thyroid carcinoma susceptibility and tumor aggressiveness.

artículo científico publicado en 2012

Adherence to a breast cancer screening program and its predictors in underserved women in southern Brazil.

artículo científico publicado en 2010

Age at cancer onset in germline TP53 mutation carriers: association with polymorphisms in predicted G-quadruplex structures

artículo científico publicado en 2013

Analysis of Predictive Biomarkers in Patients With Lung Adenocarcinoma From Southern Brazil Reveals a Distinct Profile From Other Regions of the Country

artículo científico publicado en 2019

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

artículo científico publicado en 2015

Apolipoprotein E genetic polymorphism, serum lipoprotein levels and breast cancer risk: A case-control study

artículo científico publicado en 2014

Association between myeloperoxidase polymorphisms and its plasma levels with severity of coronary artery disease

artículo científico publicado en 2009

Association of adipokines and adhesion molecules with indicators of obesity in women undergoing mammography screening.

artículo científico publicado en 2012

BDNF/TrkB content and interaction with gastrin-releasing peptide receptor blockade in colorectal cancer

artículo científico publicado en 2010

BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?

artículo científico publicado en 2017

BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome.

artículo científico publicado en 2016

Brain imaging and genetic risk in the pediatric population, part 2: congenital malformations of the central nervous system

artículo científico publicado en 2015

Brazilian Group of Gastrointestinal Tumours' consensus guidelines for the management of gastric cancer

artículo científico publicado en 2020

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

artículo científico publicado en 2016

CHEK2 1100DELC germline mutation: a frequency study in hereditary breast and colon cancer Brazilian families.

artículo científico publicado en 2012

Calcium Signaling Alterations Caused by Epigenetic Mechanisms in Pancreatic Cancer: From Early Markers to Prognostic Impact

artículo científico publicado en 2020

Cancer Genetic Counseling in Public Health Care Hospitals: The Experience of Three Brazilian Services

article

Cancer-related worry and risk perception in Brazilian individuals seeking genetic counseling for hereditary breast cancer

scientific article published on 22 April 2020

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

artículo científico publicado en 2015

Clinical Characterization and Risk Profile of Individuals Seeking Genetic Counseling for Hereditary Breast Cancer in Brazil

article

Clinical and histomolecular endometrial tumor characterization of patients at-risk for Lynch syndrome in South of Brazil

artículo científico publicado en 2010

Clinical and molecular characterization of neurofibromatosis in southern Brazil.

artículo científico publicado en 2018

Clinical and molecular characterization of patients at risk for hereditary melanoma in southern Brazil

artículo científico publicado en 2007

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".

artículo científico publicado en 2016

Comparison of multiple genotyping methods for the identification of the cancer predisposing founder mutation p.R337H in TP53.

artículo científico publicado en 2016

Consistency of self-reported first-degree family history of cancer in a population-based study

scientific article published on 20 January 2009

Correction: BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?

artículo científico publicado en 2018

Costs of genetic testing: Supporting Brazilian Public Policies for the incorporating of molecular diagnostic technologies

artículo científico publicado en 2015

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

artículo científico publicado en 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

Development and validation of a simple questionnaire for the identification of hereditary breast cancer in primary care

artículo científico publicado en 2009

ESR1 rs9340799 is associated with endometriosis-related infertility and in vitro fertilization failure

artículo científico publicado en 2013

Early-Onset Colorectal Cancer in Patients with Li Fraumeni Syndrome: Is It Really Enough to Justify Early Colon Cancer Screening?

scientific article published on 11 April 2019

Effect of HFE gene polymorphism on sustained virological response in patients with chronic hepatitis C and elevated serum ferritin

artículo científico publicado en 2012

Erratum to: Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil

artículo científico publicado en 2015

Erratum: CHEK2 1100DELC germline mutation: a frequency study in hereditary breast and colon cancer Brazilian families

artículo científico publicado en 2015

Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients

artículo científico publicado en 2014

Frequency of the common germline MUTYH mutations p.G396D and p.Y179C in patients diagnosed with colorectal cancer in Southern Brazil

artículo científico publicado en 2011

From colorectal cancer pattern to the characterization of individuals at risk: picture for genetic research in Latin America

article

GSTM1, GSTT1, and GSTP1 polymorphisms, breast cancer risk factors and mammographic density in women submitted to breast cancer screening.

artículo científico publicado en 2012

Genetic Counseling for TP53 Germline Mutations

Genetic Variations in the TP53 Pathway in Native Americans Strongly Suggest Adaptation to the High Altitudes of the Andes.

artículo científico publicado en 2015

Genetic cancer risk assessment: A screenshot of the psychosocial profile of women at risk for hereditary breast and ovarian cancer syndrome

scientific article published on 26 January 2020

Genetic information and biobanking: a Brazilian perspective on biological and biographical issues.

artículo científico publicado en 2015

Genetic variants involved in specialized DNA replication and their relation with breast cancer risk, disease progression and patient prognosis.

artículo científico publicado en 2013

Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil

artículo científico publicado en 2015

Genomic rearrangements in BRCA1 and BRCA2: A literature review. ⬇️

artículo científico publicado en 2009

Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome.

artículo científico publicado en 2018

Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population

scientific article published on 10 February 2020

H4K12 and H3K18 Acetylation Associates With Poor Prognosis in Pancreatic Cancer

artículo científico publicado en 2016

HFE gene mutations prevent sustained virological response to interferon plus ribavirin in chronic hepatitis C patients with serum markers of iron overload

artículo científico publicado en 2002

Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia

artículo científico publicado en 2020

Haplotypic characterization of BRCA1 c.5266dupC, the prevailing mutation in Brazilian hereditary breast/ovarian cancer

scientific article published on 01 January 2020

Hereditary cancer syndromes: opportunities and challenges

artículo científico publicado en 2013

Hereditary non-polipomatous colorectal cancer: hereditary predisposition, diagnosis and prevention

artículo científico publicado en 2005

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

artículo científico publicado en 2009

Identification of patients at-risk for Lynch syndrome in a hospital-based colorectal surgery clinic ⬇️

artículo científico publicado el 14 de febrero de 2011

Impact of beta1-adrenergic receptor polymorphisms on susceptibility to heart failure, arrhythmogenesis, prognosis, and response to beta-blocker therapy.

artículo científico publicado en 2008

Increased oxidative damage in carriers of the germline TP53 p.R337H mutation

artículo científico publicado en 2012

Influence of CYP19A1 polymorphisms on the treatment of breast cancer with aromatase inhibitors: a systematic review and meta-analysis

artículo científico publicado en 2015

Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseases

scientific article published on 10 June 2019

Interaction between TP63 and MDM2 genes and the risk of recurrent pregnancy loss

artículo científico publicado en 2014

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

artículo científico publicado en 2010

Knowledge about breast cancer and hereditary breast cancer among nurses in a public hospital.

artículo científico publicado en 2015

Li-Fraumeni and Li-Fraumeni-like syndrome among children diagnosed with pediatric cancer in Southern Brazil

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

scientific article published on 20 November 2019

Microsatellite instability testing in genetically heterogeneous populations

artículo científico publicado en 2007

Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis.

artículo científico publicado en 2017

Mutation spectrum in South American Lynch syndrome families

scientific article published on 18 December 2013

Nerve conduction studies, electromyography and sympathetic skin response in Fabry's disease

artículo científico publicado en 2003

Optic nerve enlargement and leukodystrophy: an unusual finding of the infantile form of Krabbe disease.

artículo científico publicado en 2010

PRIMA-1, a mutant p53 reactivator, induces apoptosis and enhances chemotherapeutic cytotoxicity in pancreatic cancer cell lines

artículo científico publicado en 2014

Pediatric cancer and Li-Fraumeni/Li-Fraumeni-like syndromes: a review for the pediatrician

artículo científico publicado en 2015

Performance of the Gail and Tyrer-Cuzick breast cancer risk assessment models in women screened in a primary care setting with the FHS-7 questionnaire

artículo científico publicado en 2019

Pineal region hemangioblastoma in a patient with Von Hippel-Lindau disease

artículo científico publicado en 2011

Polymorphic variation of mononucleotide microsatellites in healthy humans and its implication for microsatellite instability screening

scientific article published on 01 January 2007

Polymorphisms in CYP19A1 and NFKB1 genes are associated with cutaneous melanoma risk in southern Brazilian patients.

artículo científico publicado en 2016

Pooling of samples to optimize SARS-CoV-2 diagnosis by RT-qPCR: comparative analysis of two protocols

artículo científico publicado en 2020

Population prevalence of hereditary breast cancer phenotypes and implementation of a genetic cancer risk assessment program in southern Brazil ⬇️

artículo científico publicado en 2009

Prevalence and impact of founder mutations in hereditary breast cancer in Latin America

artículo científico publicado en 2014

Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations

artículo científico publicado en 2016

Prevalence of the BRCA1 founder mutation c.5266dupin Brazilian individuals at-risk for the hereditary breast and ovarian cancer syndrome

artículo científico publicado en 2011

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

Recommendations for Advancing the Diagnosis and Management of Hereditary Breast and Ovarian Cancer in Brazil

scientific article published on 01 March 2020

Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice

artículo científico publicado en 2017

Response to “Germline TP53 R337H mutation is not sufficient to establish Li-Fraumeni or Li-Fraumeni-like syndrome”, by Ribeiro et al

Retinoblastoma in a pediatric oncology reference center in Southern Brazil

artículo científico publicado en 2016

Reviewing the characteristics of BRCA and PALB2-related cancers in the precision medicine era

artículo científico publicado en 2019

Reviewing the history of HIV-1: spread of subtype B in the Americas

artículo científico publicado en 2011

Screening and characterization of BRCA2 c.156_157insAlu in Brazil: Results from 1380 individuals from the South and Southeast

scientific article published on 06 October 2018

Screening for germline mutations in mismatch repair genes in patients with Lynch syndrome by next generation sequencing

artículo científico publicado en 2017

Screening of RB1 alterations in Brazilian patients with retinoblastoma and relatives with retinoma: phenotypic and genotypic associations

artículo científico publicado en 2013

Skin pigmentation polymorphisms associated with increased risk of melanoma in a case-control sample from southern Brazil

artículo científico publicado en 2020

Synchronous Periampullary Tumors in a Patient With Pancreas Divisum and Neurofibromatosis Type 1

artículo científico publicado en 2020

Systems Biology Approaches Reveal Potential Phenotype-Modifier Genes in Neurofibromatosis Type 1

artículo científico publicado en 2020

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

artículo científico publicado en 2011

TP53 p.Arg337His germline mutation prevalence in Southern Brazil: Further evidence for mutation testing in young breast cancer patients

artículo científico publicado en 2018

TP53 p.R337H is a conditional cancer-predisposing mutation: further evidence from a homozygous patient

artículo científico publicado en 2013

TP53 variants of uncertain significance: increasing challenges in variant interpretation and genetic counseling

scientific article published on 01 October 2019

TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review

artículo científico publicado en 2017

TULP3: A potential biomarker in colorectal cancer?

artículo científico publicado en 2019

The Brazilian Founder MutationTP53p.R337H is Uncommon in Portuguese Women Diagnosed with Breast Cancer

artículo científico publicado en 2014

The Brazilian Hereditary Cancer Network: historical aspects and challenges for clinical cancer genetics in the public health care system in Brazil

artículo científico publicado en 2016

The CDKN2A p.A148T variant is associated with cutaneous melanoma in Southern Brazil

artículo científico publicado en 2011

The Challenge of Evaluating Adnexal Masses in Patients With Breast Cancer

artículo científico publicado en 2018

The Development of the Study of Hereditary Cancer in South America

artículo científico publicado en 2016

The Role of Co-Deleted Genes in Neurofibromatosis Type 1 Microdeletions: An Evolutive Approach

scientific article published on 24 October 2019

The TP53 fertility network

artículo científico publicado en 2012

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

artículo científico publicado en 2006

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

artículo científico publicado en 2015

The germline mutational landscape of BRCA1 and BRCA2 in Brazil.

artículo científico publicado en 2018

The role of genomics in global cancer prevention

scientific article published on 24 September 2020

Tuberous Sclerosis Complex with rare associated findings in the gastrointestinal system: a case report and review of the literature

artículo científico publicado en 2020

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

artículo científico publicado en 2010

Vitamin D Status and VDR Genotype in NF1 Patients: A Case-Control Study from Southern Brazil

artículo científico publicado en 2015

XAF1 as a modifier of p53 function and cancer susceptibility

scientific article published on 24 June 2020

miRNA-21 and miRNA-34a Are Potential Minimally Invasive Biomarkers for the Diagnosis of Pancreatic Ductal Adenocarcinoma.

artículo científico publicado en 2016

miRNAs As Diagnostic and Prognostic Biomarkers in Pancreatic Ductal Adenocarcinoma and Its Precursor Lesions: A Review

artículo científico publicado en 2015

p53 signaling pathway polymorphisms, cancer risk and tumor phenotype in TP53 R337H mutation carriers.

artículo científico publicado en 2017

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