Cristina Brinckmann Oliveira Netto
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View article: <i>TSC1</i>mRNA processing alterations in tuberous sclerosis complex (TSC) patients with negative or inconclusive genetic testing results
<i>TSC1</i>mRNA processing alterations in tuberous sclerosis complex (TSC) patients with negative or inconclusive genetic testing results Open
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by the presence of pathogenic germline variants in TSC1 or TSC2 genes. However, most TSC1 and TSC2 genetic testing strategies are limited and about 20% of patients h…
View article: Primary cells derived from Tuberous Sclerosis Complex patients show autophagy alteration in the haploinsufficiency state
Primary cells derived from Tuberous Sclerosis Complex patients show autophagy alteration in the haploinsufficiency state Open
Tuberous sclerosis complex (TSC) is an autosomal dominant cancer predisposition disorder caused by heterozygous mutations in TSC1 or TSC2 genes and characterized by mTORC1 hyperactivation. TSC-associated tumors develop after loss of hetero…
View article: Primary cells derived from Tuberous Sclerosis Complex patients show autophagy alteration in the haploinsufficiency state
Primary cells derived from Tuberous Sclerosis Complex patients show autophagy alteration in the haploinsufficiency state Open
Tuberous sclerosis complex (TSC) is an autosomal dominant cancer predisposition disorder caused by heterozygous mutations in TSC1 or TSC2 genes and characterized by mTORC1 hyperactivation. TSC-associated tumors develop after loss of hetero…
View article: Tuberous Sclerosis Complex with rare associated findings in the gastrointestinal system: a case report and review of the literature
Tuberous Sclerosis Complex with rare associated findings in the gastrointestinal system: a case report and review of the literature Open
Background Tuberous Sclerosis Complex (TSC) is a complex and heterogeneous genetic disease that has well-established clinical diagnostic criteria. These criteria do not include gastrointestinal tumors. Case presentation We report a 45-year…
View article: Haplotypic characterization of BRCA1 c.5266dupC, the prevailing mutation in Brazilian hereditary breast/ovarian cancer
Haplotypic characterization of BRCA1 c.5266dupC, the prevailing mutation in Brazilian hereditary breast/ovarian cancer Open
Specific pathogenic mutations associated with breast cancer development can vary between ethnical groups. One example is BRCA1 c.5266dupC that was first described as a founder mutation in the Ashkenazi Jewish population, but was later also…
View article: 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
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 Open
Breast cancer (BC) risk assessment models base their estimations on different aspects of a woman’s personal and familial history. The Gail and Tyrer–Cuzick models are the most commonly used, and BC risks assigned by them vary considerably …
View article: 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
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 Open
Breast cancer (BC) risk assessment models base their estimations on different aspects of a woman’s personal and familial history. The Gail and Tyrer–Cuzick models are the most commonly used, and BC risks assigned by them vary considerably …
View article: 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
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 Open
Breast cancer (BC) risk assessment models base their estimations on different aspects of a woman's personal and familial history. The Gail and Tyrer-Cuzick models are the most commonly used, and BC risks assigned by them vary considerably …
View article: TP53 p.Arg337His germline mutation prevalence in Southern Brazil: Further evidence for mutation testing in young breast cancer patients
TP53 p.Arg337His germline mutation prevalence in Southern Brazil: Further evidence for mutation testing in young breast cancer patients Open
Premenopausal breast cancer (BC) is a core tumor of Li-Fraumeni (LFS) and Li-Fraumeni-like (LFL) Syndromes, predisposition disorders caused by germline mutations in TP53 gene. In the Southern and Southeastern regions of Brazil, a specific …
View article: 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?
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? Open
[This corrects the article DOI: 10.1371/journal.pone.0187630.].
View article: Whole-body resonance: a screening tool for patients with hereditary cancer syndromes
Whole-body resonance: a screening tool for patients with hereditary cancer syndromes Open
Poster: ECR 2018 / C-1497 / Whole-body resonance: a screening tool for patients with hereditary cancer syndromes by: B. D. S. Arruda 1, T. M. B. Da Conceicao2, M. Dorigatti Soldatelli1, L. Jorge Valle 2, L. Goncalves Campos2, J.…
View article: Clinical and molecular characterization of neurofibromatosis in southern Brazil
Clinical and molecular characterization of neurofibromatosis in southern Brazil Open
Objectives: Neurofibromatoses (type 1: NF1; type 2: NF2) are autosomal dominant tumor predisposition syndromes mostly caused by loss-of-function mutations in the tumor suppressor genes NF1 and NF2, respectively. Genotyping is important for…
View article: 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?
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? Open
This is the largest study of comprehensive BRCA testing among Brazilians to date, and the first to analyze clinical criteria for genetic testing. Several criteria that are not included in the NCCN achieved a higher predictive value. Identi…
View article: Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis
Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis Open
Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by the development of multiple hamartomas in many organs and tissues. It occurs due to inactivating mutations in either of the two genes, TSC1 and…
View article: TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review
TSC1 and TSC2 gene mutations and their implications for treatment in Tuberous Sclerosis Complex: a review Open
Tuberous sclerosis complex is an autosomal dominant disorder characterized by skin manifestations and formation of multiple tumors in different organs, mainly in the central nervous system. Tuberous sclerosis is caused by the mutation of o…