RESUMEN
METHODS: Data were retrospectively collected from the registry of the High-Risk Breast and Ovarian Cancer Program at Clínica Las Condes, Santiago, Chile. Data captured included index case diagnosis, ancestry, family history, and genetic test results. RESULTS: Three hundred fifteen individuals underwent genetic testing during the study period. The frequency of germline pathogenic and likely pathogenic variants in a breast or ovarian cancer predisposition gene was 20.3%. Of those patients who underwent testing with a panel of both high- and moderate-penetrance genes, 10.5% were found to have pathogenic or likely pathogenic variants in non-BRCA1/2 genes. CONCLUSION: Testing for non-BRCA1 and -2 mutations may be clinically relevant for individuals who are suspected to have a hereditary breast or ovarian cancer syndrome in Chile. Comprehensive genetic testing of individuals who are at high risk is necessary to further characterize the genetic susceptibility to cancer in Chile.
Asunto(s)
Neoplasias de la Mama/epidemiología , Neoplasias de la Mama/genética , Predisposición Genética a la Enfermedad , Variación Genética , Neoplasias Ováricas/epidemiología , Neoplasias Ováricas/genética , Chile/epidemiología , Femenino , Humanos , Anamnesis , Mutación , Linaje , Vigilancia de la Población , Medición de Riesgo , Factores de RiesgoRESUMEN
Our aim was to analyze the incidence of mutations in BRCA1 and BRCA2 genes in 54 families with breast/ovarian cancer. Families were selected from three Institutions following the standard criteria for hereditary breast/ovarian cancer. PCR amplification of all exons was performed, followed by SSCP, heteroduplex, PTT and sequencing analysis. We identified eight truncation mutations, three in the BRCA1 gene and five in the BRCA2 gene. Three of these mutations have not been reported previously by other groups: 308insA in one family, 3936 C>T in two families, for BRCA1, and 4970insTG in one family for BRCA2. In addition two families having Ashkenazi Jewish ancestors present the well known mutations 185delAG and 6174delT. Interestingly, 5 out of 11 families have mutations recurrent in Spanish families. Among the 54 families selected, seven have breast and ovary cancer cases, and only two presented a mutation in BRCA1 or BRCA2 genes. Other cancers as prostate and stomach are frequent among relatives carrying the mutation. Five cases of very early onset (<31 years old) breast cancer were detected. The frequencies of BRCA1 (0.074) and BRCA2 (0.13) mutations in our families is low but similar to the incidence found in other populations, like in Spain. Since is widely known that risk factors that modulate the development of breast cancer such as lifestyle risk factors, geographic location, country of origin and socioeconomic status, besides a familial history of breast cancer our findings suggest that the history of colonization and immigrations is very relevant when studying hereditary factors associated to breast cancer.
Asunto(s)
Neoplasias de la Mama/genética , Genes BRCA1 , Genes BRCA2 , Predisposición Genética a la Enfermedad , Mutación , Neoplasias Ováricas/genética , Adulto , Anciano , Anciano de 80 o más Años , Neoplasias de la Mama/epidemiología , Chile/epidemiología , Salud de la Familia , Femenino , Genotipo , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Neoplasias Ováricas/epidemiología , Fenotipo , Reacción en Cadena de la Polimerasa , Polimorfismo Conformacional Retorcido-Simple , Factores de RiesgoRESUMEN
El objetivo del trabajo fue evaluar la relación anatomoclínica de los linfonodos de la axila en pacientes con cáncer de mama T1 T2 analizándose 30 pacientes operados. En 10 el tamaño del tumor (T1) era menor de 2 cm y en 20 (T2) fluctuaba entre 2 y 5 cm. Todas fueron sometidas a mastectomía parcial con vaciamiento axilar con estudio de los diferentes niveles. Al estudiar la relación anatomoclínica y el estado de la axila se encontró: clínica (+)/histología (-) 1/4 (25%). Clínica (+)/histología (+) 3/4 (75%). Clínica (-)/histología (-) 21/26 (80,7%). Clínica (-)/histología (+) 5/26 (19,2%). Todos los linfonodos histológicamente positivos correspondían al nivel 1. Se encontró una discordancia entre la clínica y los hallazgos histológicos en el 20%(6/30). El hallazgo de que el 19,2%de las axilas clínicamente negativas, sean histológicamente positivas hace meditar sobre la conveniencia de vaciarla