Hereditary cancer risk assessment: insights and perspectives for the Next-Generation Sequencing era.

Abstract:

:Hereditary cancer risk assessment is a multidisciplinary and dynamic process, with the purpose of estimating probabilities of germline mutations in cancer susceptibility genes and assessing empiric risks of cancer based on personal and family histories, in order to offer clinical and molecular diagnoses and clinical management based on these risks. Genetic tests are available and most of them are reimbursed by insurance companies, although they are generally not covered by the public health systems of developing countries. More recently, molecular diagnosis of hereditary cancer is feasible through next-generation sequencing (NGS) panels. Here we review the benefits and limitations of NGS technologies in the clinical practice.

journal_name

Genet Mol Biol

authors

Gomy I,Diz Mdel P

doi

10.1590/1678-4685-GMB-2014-0346

subject

Has Abstract

pub_date

2016-05-13 00:00:00

pages

184-8

issue

2

eissn

1415-4757

issn

1678-4685

pii

S1415-47572016005001102

journal_volume

39

pub_type

杂志文章
  • Identification and detection of a novel human endogenous retrovirus-related gene, and structural characterization of its related elements.

    abstract::Up-regulation of human endogenous retroviruses (HERVs) is associated with many diseases, including cancer. In this study, an H family HERV (HERV-H)-related gene was identified and characterized. Its spliced transcript lacks protein-coding capacity and may belong to the emerging class of noncoding RNAs (ncRNAs). The 1....

    journal_title:Genetics and molecular biology

    pub_type: 杂志文章

    doi:10.1590/S1415-47572009005000082

    authors: Liang Q,Ding J,Zheng S

    更新日期:2009-10-01 00:00:00

  • Familial Dysautonomia: Mechanisms and Models.

    abstract::Hereditary Sensory and Autonomic Neuropathies (HSANs) compose a heterogeneous group of genetic disorders characterized by sensory and autonomic dysfunctions. Familial Dysautonomia (FD), also known as HSAN III, is an autosomal recessive disorder that affects 1/3,600 live births in the Ashkenazi Jewish population. The m...

    journal_title:Genetics and molecular biology

    pub_type: 杂志文章

    doi:10.1590/1678-4685-GMB-2015-0335

    authors: Dietrich P,Dragatsis I

    更新日期:2016-10-01 00:00:00

  • Cytogenetical studies in five Atlantic Anguilliformes fishes.

    abstract::The order Anguilliformes comprises 15 families, 141 genera and 791 fish species. Eight families had at least one karyotyped species, with a prevalence of 2n = 38 chromosomes and high fundamental numbers (FN). The only exception to this pattern is the family Muraenidae, in which the eight species analyzed presented 2n ...

    journal_title:Genetics and molecular biology

    pub_type: 杂志文章

    doi:10.1590/S1415-47572009005000015

    authors: Vasconcelos AJ,Molina WF

    更新日期:2009-01-01 00:00:00

  • Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder.

    abstract::Metachromatic leukodystrophy disorder (MLD) is an autosomal recessive and lysosomal storage disease. The disease is caused by the deficiency of the enzyme arylsulfatase A (ARSA) which is encoded by the ARSA gene. Different mutations have been reported in different populations. The present study was aimed to detect the...

    journal_title:Genetics and molecular biology

    pub_type: 杂志文章

    doi:10.1590/1678-4685-GMB-2016-0110

    authors: Golchin N,Hajjari M,Malamiri RA,Aminzadeh M,Mohammadi-Asl J

    更新日期:2017-10-01 00:00:00

  • The catalase gene family in cucumber: genome-wide identification and organization.

    abstract::Catalase (CAT) is a common antioxidant enzyme in almost all living organisms. Currently, detailed reports on cucumber (Cucumis sativus L.) CAT (CsCAT) genes and tissue expression profiling are limited. In the present study, four candidate CsCAT genes were identified in cucumber. Phylogenetic analysis indicated that Cs...

    journal_title:Genetics and molecular biology

    pub_type: 杂志文章

    doi:10.1590/1678-4685-GMB-2015-0192

    authors: Hu L,Yang Y,Jiang L,Liu S

    更新日期:2016-07-01 00:00:00

  • Alpha-1 antitrypsin gene polymorphism in Chronic Obstructive Pulmonary Disease (COPD).

    abstract::Alpha-1-antitrypsin (AAT) plays an important role in the pathogenesis of emphysema, the pathological lesion underlying the majority of the manifestations of Chronic Obstructive Pulmonary Disease (COPD). In this study we tested the hypothesis that common AAT polymorphisms influence the risk of developing COPDs. We inve...

    journal_title:Genetics and molecular biology

    pub_type: 杂志文章

    doi:10.1590/S1415-47572009005000107

    authors: Denden S,Khelil AH,Knani J,Lakhdar R,Perrin P,Lefranc G,Chibani JB

    更新日期:2010-01-01 00:00:00

  • A molecular method for the detection of sally lightfoot crab larvae (Grapsus grapsus, Brachyura, Grapsidae) in plankton samples.

    abstract::The decapod Grapsus grapsus is commonly found on oceanic islands of the Pacific and Atlantic coasts of the Americas. In this study, a simple, quick and reliable method for detecting its larvae in plankton samples is described, which makes it ideal for large-scale studies of larval dispersal patterns in the species. ...

    journal_title:Genetics and molecular biology

    pub_type: 杂志文章

    doi:10.1590/S1415-47572011005000020

    authors: Ströher PR,Firkowski CR,Freire AS,Pie MR

    更新日期:2011-07-01 00:00:00

  • Overall picture of expressed Heat Shock Factors in Glycine max, Lotus japonicus and Medicago truncatula.

    abstract::Heat shock (HS) leads to the activation of molecular mechanisms, known as HS-response, that prevent damage and enhance survival under stress. Plants have a flexible and specialized network of Heat Shock Factors (HSFs), which are transcription factors that induce the expression of heat shock proteins. The present work ...

    journal_title:Genetics and molecular biology

    pub_type: 杂志文章

    doi:10.1590/S1415-47572012000200006

    authors: Soares-Cavalcanti NM,Belarmino LC,Kido EA,Pandolfi V,Marcelino-Guimarães FC,Rodrigues FA,Pereira GA,Benko-Iseppon AM

    更新日期:2012-06-01 00:00:00

  • The genomes of three Bradyrhizobium sp. isolated from root nodules of Lupinus albescens grown in extremely poor soils display important genes for resistance to environmental stress.

    abstract::Lupinus albescens is a resistant cover plant that establishes symbiotic relationships with bacteria belonging to the Bradyrhizobium genus. This symbiosis helps the development of these plants in adverse environmental conditions, such as the ones found in arenized areas of Southern Brazil. This work studied three Brady...

    journal_title:Genetics and molecular biology

    pub_type: 杂志文章

    doi:10.1590/1678-4685-GMB-2017-0098

    authors: Granada CE,Vargas LK,Sant'Anna FH,Balsanelli E,Baura VA,Oliveira Pedrosa F,Souza EM,Falcon T,Passaglia LMP

    更新日期:2018-04-01 00:00:00

  • Cytogenetic analysis of three sea catfish species (Teleostei, Siluriformes, Ariidae) with the first report of Ag-NOR in this fish family.

    abstract::Despite their ecological and economical importance, fishes of the family Ariidae are still genetically and cytogenetically poorly studied. Among the 133 known species of ariids, only eight have been karyotyped. Cytogenetic analyses performed on Genidens barbus and Sciades herzbergii revealed that both species have 2n ...

    journal_title:Genetics and molecular biology

    pub_type: 杂志文章

    doi:10.1590/S1415-47572010005000038

    authors: Nirchio M,Martinez ER,Foresti F,Oliveira C

    更新日期:2010-04-01 00:00:00

  • Molecular characterization of MHC-DRB cDNA in water buffalo (Bubalus bubalis).

    abstract::In the present study, water buffalo MHC (Bubu)-DRB cDNA was cloned and characterized. The 1022 base long-amplified cDNA product encompassed a single open reading frame of 801 bases that coded for 266 amino acids. The Bubu-DRB sequence showed maximum homology with the BoLA-DRB3*0101 allele of cattle. A total of seven a...

    journal_title:Genetics and molecular biology

    pub_type: 杂志文章

    doi:10.1590/s1415-47572012005000013

    authors: Naskar S,Deb SM,Niranjan SK,Kumar S,Sharma D,Sakaram D,Sharma A

    更新日期:2012-01-01 00:00:00

  • A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): An illustrative case in the investigation of patients with low ARSA activity.

    abstract::A 10-year-old speechless, mentally deficient male, with low arylsulfatase A (ARSA) activity, and presumably, methachromatic leukodystrophy, underwent genetic evaluation. As the clinical picture was not compatible with this diagnosisan ARSA gene and chromosome analysis were performed, showing the presence of a pseudode...

    journal_title:Genetics and molecular biology

    pub_type: 杂志文章

    doi:10.1590/S1415-47572012000300007

    authors: Artigalás O,Paskulin G,Riegel M,Burin M,Saraiva-Pereira ML,Maluf S,Kiss A,Schwartz IV

    更新日期:2012-04-01 00:00:00

  • Introduction of the rd29A:AtDREB2A CA gene into soybean (Glycine max L. Merril) and its molecular characterization in leaves and roots during dehydration.

    abstract::The loss of soybean yield to Brazilian producers because of a water deficit in the 2011-2012 season was 12.9%. To reduce such losses, molecular biology techniques, including plant transformation, can be used to insert genes of interest into conventional soybean cultivars to produce lines that are more tolerant to drou...

    journal_title:Genetics and molecular biology

    pub_type: 杂志文章

    doi:10.1590/S1415-47572013000400015

    authors: Engels C,Fuganti-Pagliarini R,Marin SR,Marcelino-Guimarães FC,Oliveira MC,Kanamori N,Mizoi J,Nakashima K,Yamaguchi-Shinozaki K,Nepomuceno AL

    更新日期:2013-12-01 00:00:00

  • Genetic diversity in cultivated carioca common beans based on molecular marker analysis.

    abstract::A wide array of molecular markers has been used to investigate the genetic diversity among common bean species. However, the best combination of markers for studying such diversity among common bean cultivars has yet to be determined. Few reports have examined the genetic diversity of the carioca bean, commercially on...

    journal_title:Genetics and molecular biology

    pub_type: 杂志文章

    doi:10.1590/S1415-47572011000100017

    authors: Küpper Cardoso Perseguini JM,Chioratto AF,Zucchi MI,Colombo CA,Carbonell SA,Costa Mondego JM,Gazaffi R,Franco Garcia AA,de Campos T,de Souza AP,Rubiano LB

    更新日期:2011-01-01 00:00:00

  • Frequency and origin of haplotypes associated with the beta-globin gene cluster in individuals with trait and sickle cell anemia in the Atlantic and Pacific coastal regions of Colombia.

    abstract::Sickle cell anemia is a genetic disease with high prevalence in people of African descent. There are five typical haplotypes associated with this disease and the haplotypes associated with the beta-globin gene cluster have been used to establish the origin of African-descendant people in America. In this work, we dete...

    journal_title:Genetics and molecular biology

    pub_type: 杂志文章

    doi:10.1590/S1415-47572013000400005

    authors: Fong C,Lizarralde-Iragorri MA,Rojas-Gallardo D,Barreto G

    更新日期:2013-12-01 00:00:00

  • Molecular genotyping of G6PD mutations and Duffy blood group in Afro-descendant communities from Brazilian Amazon.

    abstract::Glucose-6-phosphate dehydrogenase deficiency (G6PDd) and Duffy-negative blood group are two red blood cells variants that confer protection against malaria. In this study, the distribution of the most common G6PD variants (G6PD*A-, GGPD*A and G6PD Mediterranean) and the major alleles of the Duffy blood group (FY*A, FY...

    journal_title:Genetics and molecular biology

    pub_type: 杂志文章

    doi:10.1590/1678-4685-GMB-2017-0253

    authors: Oliveira HSS,Silva ANLMD,Andrade GB,Gaia KC,Costa GLC,Santos ÂKCRD,Guerreiro JF

    更新日期:2018-10-01 00:00:00

  • Mannose-Binding Lectin 2 (MBL2) combined genotypes deficiency is associated with susceptibility for Oral Lichen Planus.

    abstract::Oral Lichen Planus (OLP) is an oral inflammatory condition, mediated by host immune system reaction, presenting basal membrane damages with inflammatory lesions in the mouth and/or skin. In this study, the role of functional polymorphisms in the MBL2 gene, encoding for Mannose-Binding Protein C (MBP-C), a member of th...

    journal_title:Genetics and molecular biology

    pub_type: 杂志文章

    doi:10.1590/1678-4685-GMB-2018-0015

    authors: Polesello V,Segat L,Biasotto M,Ottaviani G,Gobbo M,Di Lenarda R,Crovella S,Zupin L

    更新日期:2019-01-01 00:00:00

  • DNA repair genes XRCC1 and XRCC3 polymorphisms and their relationship with the level of micronuclei in breast cancer patients.

    abstract::Breast cancer (BC) is the most prevalent type worldwide, besides being one of the most common causes of death among women. It has been suggested that sporadic BC is most likely caused by low-penetrance genes, including those involved in DNA repair mechanisms. Furthermore, the accumulation of DNA damage may contribute ...

    journal_title:Genetics and molecular biology

    pub_type: 杂志文章

    doi:10.1590/S1415-47572010005000082

    authors: Santos RA,Teixeira AC,Mayorano MB,Carrara HH,Andrade JM,Takahashi CS

    更新日期:2010-10-01 00:00:00

  • Reciprocal regulation between alternative splicing and the DNA damage response.

    abstract::Splicing, the process that catalyzes intron removal and flanking exon ligation, can occur in different ways (alternative splicing) in immature RNAs transcribed from a single gene. In order to adapt to a particular context, cells modulate not only the quantity but also the quality (alternative isoforms) of their transc...

    journal_title:Genetics and molecular biology

    pub_type: 杂志文章

    doi:10.1590/1678-4685-GMB-2019-0111

    authors: Botto AEC,Muñoz JC,Giono LE,Nieto-Moreno N,Cuenca C,Kornblihtt AR,Muñoz MJ

    更新日期:2020-03-27 00:00:00

  • Genotoxic effects of Tabebuia impetiginosa (Mart. Ex DC.) Standl. (Lamiales, Bignoniaceae) extract in Wistar rats.

    abstract::Tabebuia sp. is native to tropical rain forests throughout Central and South America. Although the biological and pharmacological effects of bark extracts have been intensely studied, little is known on the extract obtained from the flower. Herein, the genotoxic potential of a flower extract from T. impetiginosa ("ipê...

    journal_title:Genetics and molecular biology

    pub_type: 杂志文章

    doi:10.1590/S1415-47572012005000030

    authors: Lemos OA,Sanches JC,Silva IE,Silva ML,Vinhólis AH,Felix MA,Santos RA,Cecchi AO

    更新日期:2012-04-01 00:00:00

  • Genotoxicity of Nicotiana tabacum leaves on Helix aspersa.

    abstract::Tobacco farmers are routinely exposed to complex mixtures of inorganic and organic chemicals present in tobacco leaves. In this study, we examined the genotoxicity of tobacco leaves in the snail Helix aspersa as a measure of the risk to human health. DNA damage was evaluated using the micronucleus test and the Comet a...

    journal_title:Genetics and molecular biology

    pub_type: 杂志文章

    doi:10.1590/S1415-47572013005000020

    authors: da Silva FR,Erdtmann B,Dalpiaz T,Nunes E,Ferraz A,Martins TL,Dias JF,da Rosa DP,Porawskie M,Bona S,da Silva J

    更新日期:2013-07-01 00:00:00

  • Genetic counseling and presymptomatic testing programs for Machado-Joseph Disease: lessons from Brazil and Portugal.

    abstract::Machado-Joseph disease (MJD) is an autosomal dominant, late-onset neurological disorder and the most common form of spinocerebellar ataxia (SCA) worldwide. Diagnostic genetic testing is available to detect the disease-causing mutation by direct sizing of the CAG repeat tract in the ataxin 3 gene. Presymptomatic testin...

    journal_title:Genetics and molecular biology

    pub_type: 杂志文章

    doi:10.1590/s1415-47572014000200012

    authors: Schuler-Faccini L,Osorio CM,Romariz F,Paneque M,Sequeiros J,Jardim LB

    更新日期:2014-03-01 00:00:00

  • Phylogenetic niche conservatism and plant diversification in South American subtropical grasslands along multiple climatic dimensions.

    abstract::Phylogenetic niche conservatism can be investigated at multiple scales on an explicit geographical context. Haplotype-based comparative analyses of lineages occupying the same region, and thus subjected to similar environmental factors, allow decoupling shared evolutionary and ecological patterns, as well as multiple ...

    journal_title:Genetics and molecular biology

    pub_type: 杂志文章

    doi:10.1590/1678-4685-GMB-2018-0291

    authors: Barros MJF,Silva-Arias GA,Segatto ALA,Reck-Kortmann M,Fregonezi JN,Diniz-Filho JAF,Freitas LB

    更新日期:2020-04-27 00:00:00

  • The challenges of organizing an international course in Latin America.

    abstract::The Latin American School of Human and Medical Genetics (ELAG) is the main course of its kind in the genetics field in Latin America. Here we describe the main challenges regarding the organization of such event, including how we obtain funding and how we proceed with student selection. Thus, we aim to share our exper...

    journal_title:Genetics and molecular biology

    pub_type: 杂志文章

    doi:10.1590/s1415-47572014000200002

    authors: Vairo F,López ML,Cruz CU,Corrêa PG,Baldo G

    更新日期:2014-03-01 00:00:00

  • Isolation and multiplex genotyping of polymorphic microsatellite DNA markers in the snakehead murrel, Channa striata.

    abstract::Seven polymorphic microsatellite loci were isolated and characterized for the snakehead murrel, Channa striata (Channidae), a valuable tropical freshwater fish species. Among 25 specimens collected from Kedah state in Malaysia, the number of alleles per locus ranged from 2 to 7. Observed and expected heterozygosities ...

    journal_title:Genetics and molecular biology

    pub_type: 杂志文章

    doi:

    authors: Jamsari AF,Min-Pau T,Siti-Azizah MN

    更新日期:2011-04-01 00:00:00

  • Preferential induction of MLL(Mixed Lineage Leukemia) rearrangements in human lymphocyte cultures treated with etoposide.

    abstract::Topoisomerase II inhibitors are effective chemotherapeutic agents in the treatment of cancer, in spite of being associated with the development of secondary leukemia. Our purpose was to determine the effects of etoposide on different genomic regions, aiming at discovering whether there are preferential sites which can...

    journal_title:Genetics and molecular biology

    pub_type: 杂志文章

    doi:10.1590/S1415-47572009000100022

    authors: Brassesco MS,Montaldi AP,Sakamoto-Hojo ET

    更新日期:2009-01-01 00:00:00

  • Tandem repeat distribution of gene transcripts in three plant families.

    abstract::Tandem repeats (microsatellites or SSRs) are molecular markers with great potential for plant genetic studies. Modern strategies include the transfer of these markers among widely studied and orphan species. In silico analyses allow for studying distribution patterns of microsatellites and predicting which motifs woul...

    journal_title:Genetics and molecular biology

    pub_type: 杂志文章

    doi:10.1590/S1415-47572009005000091

    authors: da Maia LC,de Souza VQ,Kopp MM,de Carvalho FI,de Oliveira AC

    更新日期:2009-10-01 00:00:00

  • Tools for Evolutionary and Genetic Analysis (TEGA): A new platform for the management of molecular and environmental data.

    abstract::Population genetics studies the distributions and changes in population allele frequencies in response to processes, such as mutation, natural selection, gene flow, and genetic drift. Researchers daily manage genetic, biological, and environmental data of the samples, storing them in text files or spreadsheets, which ...

    journal_title:Genetics and molecular biology

    pub_type: 杂志文章

    doi:10.1590/1678-4685-GMB-2018-0272

    authors: Elias DE,Rueda ECR

    更新日期:2020-05-29 00:00:00

  • Chromosome mapping of repetitive sequences in four Serrasalmidae species (Characiformes).

    abstract::The Serrasalmidae family is composed of a number of commercially interesting species, mainly in the Amazon region where most of these fishes occur. In the present study, we investigated the genomic organization of the 18S and 5S rDNA and telomeric sequences in mitotic chromosomes of four species from the basal clade o...

    journal_title:Genetics and molecular biology

    pub_type: 杂志文章

    doi:10.1590/s1415-47572014000100009

    authors: Ribeiro LB,Matoso DA,Feldberg E

    更新日期:2014-03-01 00:00:00

  • Polymorphisms of arylamine N-acetyltransferase2 and risk of lung and colorectal cancer.

    abstract::The arylamine N-acetyltransferase 2 (NAT2) enzymes detoxify a wide range of naturally occurring xenobiotics including carcinogens and drugs. Point mutations in the NAT2 gene result in the variant alleles M1 (NAT2 *5A), M2 (NAT2*6A), M3 (NAT2*7) and M4 (NAT2 *14A) from the wild-type WT (NAT2 *4) allele. The current stu...

    journal_title:Genetics and molecular biology

    pub_type: 杂志文章

    doi:10.1590/S1415-47572012005000074

    authors: Mahasneh A,Jubaili A,El Bateiha A,Al-Ghazo M,Matalka I,Malkawi M

    更新日期:2012-12-01 00:00:00