RESUMO
Previous reports have indicated that patients with breast cancer who are from the Eastern Province of Saudi Arabia have a different gene expression profile from that known for their age-matched North American population. In the present study, breast tumor samples from Canadian and Saudi Arabian patients were screened for known and unknown mutations within BRCA1 and BRCA2 as well as 21 additional genes, including, ATM, BARD1, CDH1, P53, EPCAM, MSH6, and RAD50, which have been implicated in breast and ovarian cancer predisposition. A total of 129 non-synonymous mutations were identified by Ion Torrent amplicon sequencing. Forty-one mutations in 18 genes were unique to the Canadian population and 59 mutations in 20 genes were unique to the Saudi Arabian population. A total of 55/129 unique mutations in 22 genes were not previously reported in the database. Twenty-nine mutations in 16 genes were common to both populations; one of these mutations was not previously reported in the database. The most frequently mutated gene in both populations was the BRCA2 gene, followed by BRCA1 and TP53. Unique to this work is the identification of mutations frequently found in the Saudi Arabian population that are rare in the Canadian population. This work will allow direction of genetic analysis resources toward the clinical needs of each particular population.
Assuntos
Neoplasias da Mama/genética , Predisposição Genética para Doença , Neoplasias Ovarianas/genética , Adulto , Idoso , Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/patologia , Canadá , Feminino , Testes Genéticos , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Pessoa de Meia-Idade , Neoplasias Ovarianas/epidemiologia , Neoplasias Ovarianas/patologia , Arábia Saudita , Proteína Supressora de Tumor p53/genéticaRESUMO
Reports in rhinology suggest that operated cases of chronic hypertrophic rhinitis with nasal polyps are more prone to further recurrence. This study was designed to find out if recurrence rate after surgery is related to a possible increase in the incidence and degree of osteitis. A prospective study of 82 patients with nasal polyps was carried out. They were divided into two groups: group A 50 patients, undergoing FESS for the first time, group B 32 patients, undergoing revision surgery. Histopathological examination was performed for specimens taken from the bony septa of the ethmoid with the overlying mucosa. Bony changes were seen in only 30% of the patients in group A, compared to 87.5% in group B; this difference was statistically highly significant (p = 0.001). Failure was seen in five patients (10%) in group A, 26.6% had osteitis. In contrast, failure was seen in 53% of group B, and constituted 60.7% of patients with osteitis in this group. Surgery plays a major role in increasing the incidence of osteitis in patients with nasal polyps. The increase recurrence rate in revision cases is not only related to osteitis. There are other factors than osteitis which needs further studies.
