RESUMEN
BACKGROUND: About 5-10% of incidences of breast cancers have been reported as a result of germline mutations of BRCA genes. However, the mutational spectrum of BRCA1 and BRCA2 genes among breast cancer Saudi women patients is inadequate at present. Therefore, the present study aimed to report the specific germinal mutation of BRCA1 and BRCA2 in the entire coding regions, to investigate the prevalence rate of BRCA1 & BRCA2 mutations among Saudi women and the effect of these mutations, both benign and malignant tumors. METHODOLOGY: A total of 270 tissue samples of benign and malignant breast tumors were collected from Saudi women patients, Riyadh, Saudi Arabia. Examination of BRCA1 and BRCA2 germline mutations was performed using heteroduplex DNA analysis (HDA) or single-stranded conformation analysis (SSCA). 177 breast cancer women with malignant tumors and 93 with benign tumors were enrolled in the study. A total of 62 out of 177 breast cancer patients carried a BRCA1 or BRCA2 mutation (54 BRCA1 and 8 BRCA2). The analysis was done using the Sanger sequence assay. RESULTS: Point and frameshift mutations through the entire coding area of the two genes indicated that all the mutations were germline alterations and of early-onset breast cancers. The mean ages of diagnosed breast cancer women for BRCA1 and BRCA2 mutation carriers were 36.3 (± 3.5) and 37.9 (± 3.7) years, whereas that of benign control was 35(± 2.5) years. CONCLUSION: Point and frameshift mutations across the entire coding region of BRCA1 and BRCA2 are responsible for many breast cancers cases.
Asunto(s)
Neoplasias de la Mama/genética , Genes BRCA1 , Genes BRCA2 , Mutación de Línea Germinal , Adulto , Neoplasias de la Mama/patología , Femenino , Mutación del Sistema de Lectura , Código Genético/genética , Humanos , Mutación Puntual , Arabia SauditaRESUMEN
In this work, we present additional morphological data about the scorpion fauna of Saudi Arabia. This investigation was carried out in the central region (Riyadh) of the country and identified existing and newly discovered scorpion species for taxonomic documentation while determining the medically important ones. The survey covered the entire Riyadh region, including all major districts, and collected a total of 4,164 specimens. Morphological identification of collected animals was based on identification keys. There were two species (one with a subspecies) that belonged to the family Scorpionidae, namely Scorpio maurus kruglovi (0.02 percent) and Hemiscorpius arabicus (0.05 percent). The latter, currently, is part of the Hemiscorpiidae family that had been upgraded from a subfamily. Eight more species from the Buthidae family were found: Leiurus quinquestriatus (7.20 percent), Androctonus crassicauda (17.24 percent), Androctonus bicolor (64.60 percent), Compsobuthus arabicus (3.84 percent), Compsobuthus werneri (0.94 percent), Buthacusyotvatensis nigroaculeatus (2.31 percent), Buthacusleptochelys (3.24 percent) and Orthochirus innesi (0.55 percent). The major locations of collection were the outskirts of Riyadh city and the airport vicinity. The specimens were transported from all central region areas in 124 short trips.(AU)
Asunto(s)
Animales , Escorpiones , Fauna/análisisRESUMEN
In this work, we present additional morphological data about the scorpion fauna of Saudi Arabia. This investigation was carried out in the central region (Riyadh) of the country and identified existing and newly discovered scorpion species for taxonomic documentation while determining the medically important ones. The survey covered the entire Riyadh region, including all major districts, and collected a total of 4,164 specimens. Morphological identification of collected animals was based on identification keys. There were two species (one with a subspecies) that belonged to the family Scorpionidae, namely Scorpio maurus kruglovi (0.02 percent) and Hemiscorpius arabicus (0.05 percent). The latter, currently, is part of the Hemiscorpiidae family that had been upgraded from a subfamily. Eight more species from the Buthidae family were found: Leiurus quinquestriatus (7.20 percent), Androctonus crassicauda (17.24 percent), Androctonus bicolor (64.60 percent), Compsobuthus arabicus (3.84 percent), Compsobuthus werneri (0.94 percent), Buthacusyotvatensis nigroaculeatus (2.31 percent), Buthacusleptochelys (3.24 percent) and Orthochirus innesi (0.55 percent). The major locations of collection were the outskirts of Riyadh city and the airport vicinity. The specimens were transported from all central region areas in 124 short trips.(AU)