Asunto(s)
Ataxina-3/genética , Ataxina-7/genética , Canales de Calcio/genética , Genes Mitocondriales , Proteínas Represoras/genética , Ataxias Espinocerebelosas/genética , Factores de Transcripción/genética , Adolescente , Adulto , Edad de Inicio , Anciano , Niño , Preescolar , Estudios de Cohortes , Familia , Predisposición Genética a la Enfermedad , Humanos , Persona de Mediana Edad , Polimorfismo Genético , América del Sur/epidemiología , Ataxias Espinocerebelosas/epidemiología , Transactivadores , Adulto JovenRESUMEN
We have screened BRCA2 c.156_157insAlu founder mutation in a cohort of 168 women with diagnosis of breast cancer referred for genetic counseling because of risk of being carriers of hereditary breast and ovarian cancer syndrome. Portuguese founder mutation BRCA2 c.156_157insAlu was identified in three unrelated breast cancer probands. Genotyping identified a common haplotype between markers D13S260 and D13S171, and allele sizes were compatible to those described in the Portuguese families. Allele sizes of marker D13S1246, however, were concordant in two families, suggesting that the haplotype may be larger in a subset of families. Tumor phenotypes in Brazilian families seem to reinforce the high prevalence of breast cancer among affected males. However, an apparent excess of gastrointestinal and tongue neoplasias were also observed in these families. Although these tumors are not part of the phenotypic spectrum of hereditary breast and ovarian cancer syndrome, they might be accounted for by other risk alleles contained in the founder haplotype region.
Asunto(s)
Proteína BRCA2/genética , Neoplasias de la Mama/complicaciones , Efecto Fundador , Neoplasias Gastrointestinales/etiología , Mutación de Línea Germinal/genética , Neoplasias Ováricas/complicaciones , Neoplasias de la Lengua/etiología , Adulto , Anciano , Proteína BRCA1/genética , Secuencia de Bases , Brasil/epidemiología , Neoplasias de la Mama/epidemiología , Neoplasias de la Mama/genética , ADN/análisis , ADN/genética , Femenino , Neoplasias Gastrointestinales/epidemiología , Predisposición Genética a la Enfermedad , Pruebas Genéticas , Heterocigoto , Humanos , Persona de Mediana Edad , Datos de Secuencia Molecular , Neoplasias Ováricas/epidemiología , Neoplasias Ováricas/genética , Linaje , Fenotipo , Reacción en Cadena de la Polimerasa , Pronóstico , Neoplasias de la Lengua/epidemiologíaRESUMEN
Sirenomelia é um defeito congênito muito raro do campo primário do desenvolvimento, definido pela substituição dos membros inferiores, normalmente pareados por um único membro mediano. Geralmente, associa-se a graus variados de anomalias gênito-urinárias. Relatamos três casos necropsiados dessa entidade, incluindo estudo radiológico do membro inferior único, associados a agenesia renal bilateral, de ureteres e da bexiga, atresia retal, ânus imperfurado, testículos abdominais e ausência de genitália externa, além de outros defeitos congênitos infrequentemente observados, que somente puderam ter seus diagnósticos firmados por meio da necropsia.
Sirenomelia, an extremely rare congenital defect, is defined as a limb abnormality in which the normally paired lower limbs are replaced by a single midline limb. It is commonly associated with varied genitourinary anomalies. We report three cases of sirenomelia including x-ray documentation of the lower limb. Other associated aspects, whose diagnoses were established exclusively through autopsy, included bilateral renal, ureteral and bladder agenesis, rectal atresia, imperforate anus, intra-abdominal testis, absence of external genitalia and other rare congenital abnormalities.