Molecular analysis of the eighteen most frequent mutations in the BRCA1 gene in 63 Chilean breast cancer families

BRCA1 gene mutations account for nearly all families with multiple cases of both early onset breast and/or ovarian cancer and about 30% of hereditary breast cancer. Although to date more than 1,237 distinct mutations, polymorphisms, and variants have been described, several mutations have been found to be recurrent in this gene. We have analyzed 63 Chilean breast/ovarian cancer families for eighteen frequent BRCA1 mutations. The analysis of the five exons and two introns in which these mutations are located was made using mismatch PCR assay, ASO hybridization assay, restriction fragment analysis, allele specific PCR assay and direct sequentiation techniques. Two BRCA1 mutations (185delAG and C61G) and one variant of unknown significance (E1250K) were found in four of these families. Also, a new mutation (4185delCAAG) and one previously described polymorphism (E1038G) were found in two other families. The 185delAG was found in a 3.17 % of the families and the others were present only in one of the families of this cohort. Therefore these mutations are not prominent in the Chilean population. The variant of unknown significance and the polymorphism detected could represent a founder effect of Spanish origin.

Detección y tipificación del virus papiloma humano en lesiones laríngeas con técnica de hibridación molecular in situ / Detection and typification of human papilloma virus in laryngeal lesions with the technique of molecular hybridization in situ

Se ensayó la técnica de hibridación molecular in situ en lesiones papilomatosas de la laringe, con el objetivo de detectar material genético de virus papiloma humano (VPH), identificar los tipos virales involucrados en la infección, establecer relación de diagnóstico histológico con el virológico y verificar si, a determinados cambios histopatológicos, se asocian genotipos específicos. En ocho pacientes adultos portadores de papilomatosis laríngea se revisaron, retrospectivamente, aspectos clínicos y del tejido de biopsia. Se analizaron histopatológicamente las muestras, verificando la existencia de displasia y actividad viral, y se sometieron los tejidos al estudio de hibridación molecular de ácidos nucleicos in situ. Estos aspectos se realizaron independientemente siendo por tanto un estudio doble ciego. Detectamos genotipos virales en 7 de los 8 pacientes. Tres de ellos fueron positivos para los tipos 6-11 y se asociaron a grados de displasia leves y signos de actividad viral evidente. Cuatro pacientes fueron positivos para los tipos 16-18 y presentaron grados de displasia moderada y severa con pocos signos de actividad viral. Los resultados inducen a pensar que los genotipos 6-11 se asocian a lesiones de pronóstico benigno y los 16-18 a lesiones que podrían resultar malignas debiendo considerarse la infecciones por VPH en la laringe, especialmente las producidas por subtipos 16-18, como de riesgo, dado que estas serian cofactores carcinogenéticos

Tipos viricos del herpes simple asociados a infecciones genitales primarias y recurrentes en Chile / Viral types of herpes simplex associated with primary and recurrent genital infections in Chile

In view of the different biological behavior of the two types of herpes simplex virus (HSV-1 and HSV-2) that may cause genital infection, it is important to identify the virus strain carried as a means of prognosticating evolution of the disease. The new methods of viral typing with specific monoclonal antibodies represent a significant advance in identifying and gaining improved knowledge of these viral agents. This article presents the results obtained in typing virus strains isolated from 75 middle-class patients of both sexes who in 1985 and 1986 sought dermatological treatment at the Clinical Hospital of the University of Chile for genital lesions which were diagnosed as genital herpes. Approximately 75 percent of the patients were in the 20-39 years age group, with a predominance of females in the 20-39 year subgroup and of males in 30-39 year group. Of the cases studied, 81 percent showed recurrent infection and 19 percent primary infections. Associates with the HSV-1 type was found in 29 percent of primary and in 10 percent of recurring episodes, whereas 90 percent of the cases of recurring herpes and 71 percent of the primary cases were associated with the HSV-2 type. Comparison of the results obtained with data from other countries indicates that the epidemiological situation of herpes genital infection in Chile appears to occupy and intermediate point between that of the U.S. and Japan