BRCA1 and BRCA2 Mutations Other Than the Founder Alleles Among Ashkenazi Jewish in the Population of Argentina

Solano, Ángela R.; Liria, Natalia C; Jalil, Fernanda; Faggionato, Daniela; Mele, Pablo G.; Mampel, Alejandra; Cardoso, Florencia Cecilia; Podestá, Ernesto J.

doi:10.3389/fonc.2018.00323

Cited by 17 publications

(13 citation statements)

References 16 publications

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“…European ancestry is most prevalent in Argentina Solano et al, 2012;Solano et al, 2017;Solano et al, 2018), Brazil (Palmero et al, 2018) and Uruguay (Delgado et al, 2011) and the sequencing results of novel and few recurrent variants are consistent with heterogeneity from this admixture. Very importantly, a warning for not blindly importing panels of hotspot genetic variants if not tested before in the local context of regional spectrum of variants.…”

Section: S E Q U E N C I N G T E C H N O L O G I E S I N L a T I N A mentioning

confidence: 69%

Tp53 Pathogenic Variants Related to Cancer

Rosero

Mejia

Corredor

2019

BAG

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TP53 or P53 is a tumor suppressor gene known as the “genome guardian”, responsible for inducing cell response to DNA damage, by stopping the cell cycle in case of mutation, activating DNA repair enzymes, initiating senescence and activation of apoptosis. Mutations in the gene sequence can cause non-synonymous mutations or errors in the reading frame by insertion, deletion or displacement of nucleotides: e.g., c.358A>G mutation in exon 4 and variants located in exons 9 and 10 of the TD domain. Therefore, in this review, we will see that changes in the reading frame, including the loss of one or two base pairs could prevent accurate transcription or changes in the structure and function of the protein, and could completely impair reparation function. These changes promote self-sufficiency in growth signaling, insensitivity to anti-growth signals, and evasion of apoptosis, resulting in limitless replication and induction of metastatic angiogenesis, generating as a consequence the proliferation of tumor, neoplastic, and lymphoid cells. Taking into account the importance of TP53 in the regulation of the cell cycle, the objective of this review is to update information related to the role of this gene in the development of cancer and the description of genetic variations. Key words: Neoplasms, nuclear phosphoprotein p53, Tumor Suppressor, mutation, Clinvar, Uniprot

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Section: S E Q U E N C I N G T E C H N O L O G I E S I N L a T I N A mentioning

confidence: 69%

Tp53 Pathogenic Variants Related to Cancer

Rosero

Mejia

Corredor

2019

BAG

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“…Considering the inclusion criteria, 81 studies were selected for extensive analysis [34,35,36,37,38,39,40,41,42,43,44,45,46,47,48,49,50,51,52,53,54,55,56,57,58,59,60,61,62,63,64,65,66,67,68,69,70,71,72,73,74,75,76,77,78,79,80,81,82,83,84,85,86,87,88,89,90,91,92,93,94,95,96,97,98,99,100,101,102,103,104,105,…”

Section: Methodsmentioning

confidence: 99%

Landscape of Germline Mutations in DNA Repair Genes for Breast Cancer in Latin America: Opportunities for PARP-Like Inhibitors and Immunotherapy

Urbina-Jara

Rojas-Martı́nez

Martinez-Ledesma

et al. 2019

Genes

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Germline mutations in BRCA1 and BRCA2 (BRCA1/2) genes are present in about 50% of cases of hereditary breast cancer. Proteins encoded by these genes are key players in DNA repair by homologous recombination (HR). Advances in next generation sequencing and gene panels for breast cancer testing have generated a large amount of data on gene variants implicated in hereditary breast cancer, particularly in genes such as PALB2, ATM, CHEK2, RAD51, MSH2, and BARD1. These genes are involved in DNA repair. Most of these variants have been reported for Caucasian, Jewish, and Asian population, with few reports for other communities, like those in Latin American (LA) countries. We reviewed 81 studies from 11 LA countries published between 2000 and 2019 but most of these studies focused on BRCA1/2 genes. In addition to these genes, breast cancer-related variants have been reported for PALB2, ATM, CHEK2, BARD1, MLH1, BRIP1, MSH2, NBN, MSH6, and PMS2 genes. Some of these variants are unique to LA populations. This analysis may contribute to enhance breast cancer variant characterization, and thus to find therapies and implement precision medicine for LA communities.

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“…e proportion of their carriers among all tested patients is ∼20%. In patients without major mutations, NGS can detect the pathogenic BRCA1 and BRCA2 mutation in another 8% of cases [73,74]. Another example is the increased frequency of the c.5266dupC mutation (referred to as 5382insC in the cited publications) in the BRCA1 gene in European part of Russia, which is responsible for 10% to 17% of cases of breast and ovarian cancer [75,76].…”

Section: Molecular Geneticmentioning

confidence: 99%

Application Areas of Traditional Molecular Genetic Methods and NGS in relation to Hereditary Urological Cancer Diagnosis

Mikhaylenko

Танас

Zaletaev

et al. 2020

Journal of Oncology

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Next generation sequencing (NGS) is widely used for diagnosing hereditary cancer syndromes. Often, exome sequencing and extended gene panel approaches are the only means that can be used to detect a pathogenic germline mutation in the case of multiple primary tumors, early onset, a family history of cancer, or a lack of specific signs associated with a particular syndrome. Certain germline mutations of oncogenes and tumor suppressor genes that determine specific clinical phenotypes may occur in mutation hot spots. Diagnosis of such cases, which involve hereditary cancer, does not require NGS, but may be made using PCR and Sanger sequencing. Diagnostic criteria and professional community guidelines developed for hereditary cancers of particular organs should be followed when ordering molecular diagnostic tests for a patient. This review focuses on urological oncology associated with germline mutations. Clinical signs and genetic diagnostic laboratory tests for hereditary forms of renal cell cancer, prostate cancer, and bladder cancer are summarized. While exome sequencing, or, conversely, traditional molecular genetic methods are the procedure of choice in some cases, in most situations, sequencing of multigene panels that are specifically aimed at detecting germline mutations in early onset renal cancer, prostate cancer, and bladder cancer seems to be the basic solution for molecular genetic diagnosis of hereditary cancers.

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BRCA1 and BRCA2 Mutations Other Than the Founder Alleles Among Ashkenazi Jewish in the Population of Argentina

Cited by 17 publications

References 16 publications

Tp53 Pathogenic Variants Related to Cancer

Tp53 Pathogenic Variants Related to Cancer

Landscape of Germline Mutations in DNA Repair Genes for Breast Cancer in Latin America: Opportunities for PARP-Like Inhibitors and Immunotherapy

Application Areas of Traditional Molecular Genetic Methods and NGS in relation to Hereditary Urological Cancer Diagnosis

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