RESUMO
Colorectal cancer (CRC) incidence in Puerto Rico has increased prodigiously since incidence figures were first recorded in 1950. Implications for hereditary nonpolyposis colorectal cancer (HNPCC) in concert with this increased CRC incidence are discussed. A family with the Amsterdam-positive criteria of the Lynch syndrome II variant, identified in the eastern area of Puerto Rico, is described. As far as we can determine, this is the first such report of this disorder in Puerto Rico
Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Neoplasias Colorretais Hereditárias sem Polipose/epidemiologia , Adjuvantes Imunológicos/administração & dosagem , Adjuvantes Imunológicos/uso terapêutico , Antimetabólitos Antineoplásicos/administração & dosagem , Antimetabólitos Antineoplásicos/uso terapêutico , Quimioterapia Combinada , Seguimentos , Fluoruracila/administração & dosagem , Fluoruracila/uso terapêutico , Incidência , Levamisol/administração & dosagem , Levamisol/uso terapêutico , Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico , Neoplasias Colorretais Hereditárias sem Polipose/tratamento farmacológico , Neoplasias Colorretais Hereditárias sem Polipose/genética , Neoplasias Colorretais/epidemiologia , Linhagem , Porto Rico/epidemiologia , Fatores de TempoRESUMO
Colorectal cancer (CRC) incidence in Puerto Rico has increased prodigiously since incidence figures were first recorded in 1950. Implications for hereditary nonpolyposis colorectal cancer (HNPCC) in concert with this increased CRC incidence are discussed. A family with the Amsterdam-positive criteria of the Lynch syndrome II variant, identified in the eastern area of Puerto Rico, is described. As far as we can determine, this is the first such report of this disorder in Puerto Rico.
Assuntos
Neoplasias Colorretais Hereditárias sem Polipose/epidemiologia , Adjuvantes Imunológicos/administração & dosagem , Adjuvantes Imunológicos/uso terapêutico , Adulto , Antimetabólitos Antineoplásicos/administração & dosagem , Antimetabólitos Antineoplásicos/uso terapêutico , Neoplasias Colorretais/epidemiologia , Neoplasias Colorretais Hereditárias sem Polipose/diagnóstico , Neoplasias Colorretais Hereditárias sem Polipose/tratamento farmacológico , Neoplasias Colorretais Hereditárias sem Polipose/genética , Quimioterapia Combinada , Feminino , Fluoruracila/administração & dosagem , Fluoruracila/uso terapêutico , Seguimentos , Humanos , Incidência , Levamisol/administração & dosagem , Levamisol/uso terapêutico , Masculino , Pessoa de Meia-Idade , Linhagem , Porto Rico/epidemiologia , Fatores de TempoRESUMO
PURPOSE: We updated an Uruguayan family with hereditary nonpolyposis colorectal cancer first described in 1977, incorporating knowledge of how the hMLH1 germline mutation has been established and shown to segregate in accord with the expected autosomal dominant mode of genetic transmission. METHODS: DNA-based molecular genetic testing was performed in conjunction with genetic counseling. Individuals were provided with their genetic test results, so that at-risk family members would be able to benefit from targeted management programs. RESULTS: We counseled 19 members of this kindred, 13 of whom were positive for the hMLH1 germline mutation. Specific recommendations for surveillance and management were provided. We were able to describe follow-up, including anecdotal cancer survival and pathology findings extending from the initial 1977 report of this family to the present. A remarkable sibship within this kindred was comprised of eight siblings, six of whom underwent resections for colorectal carcinoma between 1963 and 1971. Colon carcinomas before 1977 in this sibship were treated with classic hemicolectomies. Of those who had hemicolectomies for their first primary colorectal cancers, two had a second colon cancer primary, and two had a third colon cancer primary. CONCLUSIONS: Attention given to this extended family with hereditary nonpolyposis colorectal cancer has had a positive impact on the physician community in Uruguay, leading to the identification of additional families with hereditary nonpolyposis colorectal cancer.
Assuntos
Neoplasias Colorretais Hereditárias sem Polipose/genética , Proteínas Adaptadoras de Transdução de Sinal , Adulto , Idoso , Proteínas de Transporte , Neoplasias Colorretais Hereditárias sem Polipose/patologia , Neoplasias Colorretais Hereditárias sem Polipose/cirurgia , Feminino , Triagem de Portadores Genéticos , Aconselhamento Genético , Testes Genéticos , Mutação em Linhagem Germinativa/genética , Humanos , Masculino , Pessoa de Meia-Idade , Proteína 1 Homóloga a MutL , Proteínas de Neoplasias/genética , Proteínas Nucleares , Linhagem , Taxa de Sobrevida , UruguaiRESUMO
During the last 41 years cancer of the colon in Puerto Rico has markedly increased as reported by the Puerto Rico Cancer Registry. The etiology of this increase remains elusive, but possibilities include an increase in reporting new cases, dietary modifications, exposure to carcinogens, as well as an hereditary predisposition. The importance of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) in Puerto Rico, its molecular genetics, diagnostic criteria, and management will be discussed
Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Neoplasias Colorretais Hereditárias sem Polipose/epidemiologia , Neoplasias Colorretais/epidemiologia , Estudos de Coortes , Dieta , Neoplasias Colorretais Hereditárias sem Polipose/genética , Neoplasias Colorretais/etiologia , Neoplasias Colorretais/genética , Linhagem , Porto Rico/epidemiologia , Sistema de Registros , Fatores de RiscoRESUMO
During the last 41 years cancer of the colon in Puerto Rico has markedly increased as reported by the Puerto Rico Cancer Registry. The etiology of this increase remains elusive, but possibilities include an increase in reporting new cases, dietary modifications, exposure to carcinogens, as well as an hereditary predisposition. The importance of Hereditary Nonpolyposis Colorectal Cancer (HNPCC) in Puerto Rico, its molecular genetics, diagnostic criteria, and management will be discussed.