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1.
J Genet Couns ; 26(3): 379-386, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-27957667

RESUMO

The three major hereditary cancer syndromes in Latinos (Hereditary Breast and Ovarian Cancer, Familial Adenomatous Polyposis and Lynch Syndrome) have been shown to exhibit geographic disparities by country of origin suggesting admixture-based disparities. A solid infrastructure of clinical genetics geared towards diagnosis and prevention could aid in reducing the mortality of these cancer syndromes in Latinos. Currently, clinical cancer genetic services in Latin America are scarce. Moreover, limited studies have investigated the mutational spectrum of these cancer syndromes in Latinos resulting in gaps in personalized medicine affecting diagnosis, treatment and prevention. The following commentary discusses available genotype and clinical information on hereditary cancer in Latinos and highlights the limited access for cancer genetic services in Latin America including barriers to genetic testing and alternatives for providing better access to genetic services. In this review, we discuss the status of clinical genetic cancer services for both US Latinos and those Latinos living in Latin America.


Assuntos
Testes Genéticos/estatística & dados numéricos , Disparidades em Assistência à Saúde/etnologia , Hispânico ou Latino/genética , Síndromes Neoplásicas Hereditárias/etnologia , Detecção Precoce de Câncer/estatística & dados numéricos , Feminino , Humanos , América Latina , Masculino , Mutação , Síndromes Neoplásicas Hereditárias/diagnóstico , Síndromes Neoplásicas Hereditárias/genética , Estados Unidos
2.
Artigo em Inglês | MEDLINE | ID: mdl-28127413

RESUMO

Hereditary cancer predisposition syndromes comprise approximately 10% of diagnosed cancers; however, familial forms are believed to account for up to 30% of some cancers. In Hispanics, the most commonly diagnosed hereditary cancers include colorectal cancer syndromes such as, Lynch Syndrome, Familial Adenomatous Polyposis, and hereditary breast and ovarian cancer syndromes. Although the incidence of hereditary cancers is low, patients diagnosed with hereditary cancer syndromes are at high-risk for developing secondary cancers. Furthermore, the productivity loss that occurs after cancer diagnosis in these high-risk patients has a negative socio-economic impact. This review summarizes the genetic basis, phenotype characteristics, and the National Comprehensive Cancer Network's screening, testing, and surveillance guidelines for the leading hereditary cancer syndromes. The aim of this review is to promote a better understanding of cancer genetics and genetic testing in Hispanic patients.

3.
Artigo em Inglês | MEDLINE | ID: mdl-30288455

RESUMO

OBJECTIVES: Colorectal cancer (CRC) is the 2nd most diagnosed cancer and leading cause of cancer death in Puerto Rico. However, CRC screening rates remain low. The aim of this study was to test the effectiveness of a Train-the-Trainers' (TTT) program to develop trainers capable of educating others within their communities about CRC prevention. METHODS: The TTT program consisted of didactics and seminars to capacitate participants to become trainers in CRC prevention. This project was evaluated using three components: (1) training workshops; (2) community educational sessions; and (3) the participant's experience as a trainer. Pre - and post-tests on CRC screening knowledge were given to TTT participants. Program effectiveness was determined by the pre- and post-tests, number of workshop participants completing a community educational session within three months of training and the number of community members reached. RESULTS: Among the 115 total participants, 97 participants took the pre- and post-test. There was a significant difference in the scores for the pre-test (M = 10.56, SD = 2.57) and the post-test (M = 11.43, SD = 1.83) given; t (96) = -4.68, p < 0.001. A total of 955 community members were reached. Participants from the community educational sessions (n = 680) evaluated the program. 77.7% of those participants expressed intent to undergo colonoscopy screening in the future. CONCLUSIONS: TTT was effective in preparing trainers in CRC prevention. Participants increased their knowledge about CRC prevention and successfully reached members of their community. Utilization of community trainers is an effective alternative to increase CRC education and awareness in Hispanic communities, which may positively impact CRC screening rates in this population.

4.
Fam Cancer ; 14(3): 415-25, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25782445

RESUMO

Lynch syndrome (LS) is an inherited form of colorectal cancer (CRC) caused by germline mutations in the mismatch repair (MMR) genes. It accounts for approximately 5% of all CRCs. The prevalence of LS among US Hispanics is unknown. The objective of this study was to describe the germline mutations of LS in Caribbean Hispanics from Puerto Rico and Dominican Republic. A total of 89 subjects were recruited through the Puerto Rico Familial Colorectal Cancer Registry and were classified according to Amsterdam and Bethesda clinical guidelines. For those tumors with lack of expression of MMR protein, gene sequencing was ordered. A total of 35 individuals with deficient MMR system were identified: 22 had MMR mutations and 13 had tumors with absent MMR protein expression. Our results show that the mutation spectrum of Caribbean Hispanic LS patients was composed mostly of MSH2 (66.7%) mutations, followed by MLH1 (25.0%). One mutation was identified in MSH6 (8.3%). A previously unidentified mutation in MLH1 gene c.2044_2045del was found in one Caribbean Hispanic family. MMR mutation-positive individuals were found to be more likely to have a prominent family history of CRC and tumors located at the proximal colon. Compared to MSH2 mutation carriers, MLH1 mutation-positive individuals were more likely to have a strong family history of CRC and LS associated cancers. Furthermore, insurance coverage for genetic testing was found to be limited in the study population with 65.1% of the individuals recruited were denied coverage. This report presents the first description of the mutation spectrum and clinicopathologic characteristics of LS Caribbean Hispanics patients.


Assuntos
Neoplasias Colorretais Hereditárias sem Polipose/etiologia , Reparo de Erro de Pareamento de DNA/genética , Mutação , Proteínas Adaptadoras de Transdução de Sinal/genética , Proteínas Adaptadoras de Transdução de Sinal/metabolismo , Adulto , Região do Caribe , Neoplasias Colorretais Hereditárias sem Polipose/genética , Proteínas de Ligação a DNA/genética , Proteínas de Ligação a DNA/metabolismo , Feminino , Testes Genéticos/economia , Testes Genéticos/métodos , Mutação em Linhagem Germinativa , Hispânico ou Latino/genética , Humanos , Reembolso de Seguro de Saúde , Masculino , Instabilidade de Microssatélites , Pessoa de Meia-Idade , Síndrome de Muir-Torre/genética , Proteína 1 Homóloga a MutL , Proteína 2 Homóloga a MutS/genética , Proteína 2 Homóloga a MutS/metabolismo , Proteínas Nucleares/genética , Proteínas Nucleares/metabolismo , Porto Rico
5.
Rev. esp. med. prev. salud pública ; 22(1/2): 73-75, 2017. graf, ilus
Artigo em Espanhol | IBECS (Espanha) | ID: ibc-166243

RESUMO

El crecimiento de la dimensión terapéutica de la endoscopia tiene y tendrá un enorme impacto en todo el proceso endoscópico. Desde la fabricación del dispositivo hasta el diseño de la vía clínica, la esterilización de los endoscopios supondrá una auténtica revolución y obligará a los profesionales médicos de la Endoscopia y de la Medicina Preventiva a diseñar el futuro en colaboración con la industria


The growth of the therapeutic dimension of endoscopy has and will have a huge impact on the entire endoscopic process. From the manufacture of the device to the clinical protocol, sterilization of endoscopes will mean a real revolution and will force endoscopy physicians and infection control professionals to design the future in collaboration with the industry


Assuntos
Endoscopia/tendências , Endoscópios/normas , Esterilização/normas , Procedimentos Clínicos/organização & administração , Fatores de Risco , Controle de Doenças Transmissíveis/normas , Controle e Fiscalização de Equipamentos e Provisões
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