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

Genetics and molecular biology, 2017-01, Vol.40 (1), p.69-79

2017

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Analysis of the interval between submission and publication in genetics journals

PloS one, 2023-05, Vol.18 (5), p.e0284866

2023

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

PloS one, 2015, Vol.10 (11), p.e0143262-e0143262

2015

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

Cancer medicine (Malden, MA), 2018-05, Vol.7 (5), p.2078-2088

2018

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TULP3: A potential biomarker in colorectal cancer?

PloS one, 2019-01, Vol.14 (1), p.e0210762

2019

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

World journal of gastroenterology : WJG, 2011-02, Vol.17 (6), p.766-773

2011

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Functional evaluation of germline TP53 variants identified in Brazilian families at-risk for Li–Fraumeni syndrome

Scientific reports, 2024-07, Vol.14 (1), p.17187-10, Article 17187

2024

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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?

PloS one, 2017-11, Vol.12 (11), p.e0187630-e0187630

2017

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

Genetics and molecular biology, 2019-01, Vol.42 (1 suppl 1), p.215-231

2019

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

Psycho-oncology (Chichester, England), 2020-04, Vol.29 (4), p.681-687

2020

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

Pancreas, 2016-01, Vol.45 (1), p.84-92

2016

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Genome-wide CRISPR screens identify novel regulators of wild-type and mutant p53 stability

Molecular systems biology, 2024-06, Vol.20 (6), p.719-740

2024

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The history of families at-risk for hereditary breast and ovarian cancer: what are the impacts of genetic counseling and testing?

Frontiers in psychology, 2024-03, Vol.15, p.1306388-1306388

2024

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Clinical and molecular characterization of patients fulfilling Chompret criteria for Li-Fraumeni syndrome in Southern Brazil

PloS one, 2021-09, Vol.16 (9), p.e0251639

2021

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The paradox of autophagy in Tuberous Sclerosis Complex

Genetics and molecular biology, 2021-01, Vol.44 (2), p.e20200014-e20200014

2021

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

Human mutation, 2010-02, Vol.31 (2), p.143-150

2010

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

Investigational new drugs, 2014-10, Vol.32 (5), p.783-794

2014

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

BMC cancer, 2020-11, Vol.20 (1), p.1069-1069, Article 1069

2020

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

Genetics and molecular biology, 2016-06, Vol.39 (2), p.163-165

2016

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

PloS one, 2014-06, Vol.9 (6), p.e99893-e99893

2014

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

Genetics and molecular biology, 2014-01, Vol.37 (1 Suppl), p.234-240

2014

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

Breast cancer research : BCR, 2020-10, Vol.22 (1), p.108-108, Article 108

2020

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

JCO global oncology, 2020-11, Vol.6 (6), p.439-452

2020

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

PloS one, 2017-10, Vol.12 (10), p.e0185713-e0185713

2017

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

Analysis of the interval between submission and publication in genetics journals

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

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

TULP3: A potential biomarker in colorectal cancer?

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

Functional evaluation of germline TP53 variants identified in Brazilian families at-risk for Li–Fraumeni syndrome

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?

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

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

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

Genome-wide CRISPR screens identify novel regulators of wild-type and mutant p53 stability

The history of families at-risk for hereditary breast and ovarian cancer: what are the impacts of genetic counseling and testing?

Clinical and molecular characterization of patients fulfilling Chompret criteria for Li-Fraumeni syndrome in Southern Brazil

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

The paradox of autophagy in Tuberous Sclerosis Complex

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

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

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

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

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

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

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

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

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

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