ABSTRACT
Purpose Over the past three decades, the incidence rate of breast cancer (BC) among Arab women has continually increased. However, data on the prevalence of BRCA1/2 mutations are scarce. Although the population in Saudi Arabia is at large homogeneous and consanguinity is common, especially in the central, eastern, and southern regions of the country, the prevalence of BRCA1 and BRCA2 mutations and the characteristics of BC are not well studied in the country. Methods This prospective observational study intended to determine the prevalence of BRCA1 and BRCA2 mutations and sought to examine the clinicopathologic features of BC associated with these mutations. Results Of 310 patients, 270 (87%) had no mutation. BRCA mutations were identified in 40 patients; BRCA1 mutations were found in 11% of patients, and BRCA2 mutations were found in 2% of patients. Variants of unknown significance were found in 15% of patients (45 patients). Triple-negative BC (TNBC) accounted for 86% of all patients with BC and mutations. The following three recurrent deleterious founder BRCA1 mutations were observed: c.4136_4137delCT was observed in five unrelated patients, c.5530delC was observed in three unrelated patients, and c.4524G>A mutations were observed in five unrelated patients. One novel mutation was identified in the BRCA1 gene (c.5512 dup [p.Glu1838Glyfs*42]). Conclusion Among high-risk Saudi patients with BC, BRCA1 mutations are prevalent (11%). TNBC is the most common BC subtype. Furthermore, age alone does not have a significant association with mutation, but a combination of risk factors such as age, familial history, and TNBC has a significant association with BRCA mutation.
Subject(s)
BRCA1 Protein/genetics , BRCA2 Protein/genetics , Breast Neoplasms/genetics , Breast Neoplasms/pathology , Female , Humans , Middle Aged , Mutation , Neoplasm Staging , Risk Factors , Saudi ArabiaABSTRACT
BACKGROUND: Lung cancer management is getting more complex due to the rapid advances in all aspects of diagnostic and therapeutic options. Developing guidelines is critical to help practitioners provide standard of care. METHODS: The Saudi Lung Cancer Guidelines Committee (SLCGC) multidisciplinary members from different specialties and from various regions and healthcare sectors of the country reviewed and updated all lung cancer guidelines with appropriate labeling of level of evidence. Supporting documents to help healthcare professionals were developed. RESULTS: Detailed lung cancer management guidelines were finalized with appropriate resources for systemic therapy and short reviews highlighting important issues. Stage based disease management recommendation were included. A summary explanation for complex topics were included in addition to tables of approved systemic therapy. CONCLUSION: A multidisciplinary lung cancer guidelines was developed and will be disseminated across the country.
ABSTRACT
A prospective study was carried out in the only tertiary oncology department in Oman to analyse the pattern of various prognostic factors in terminally ill cancer patients and their impact on these patients. Between September 1999 and February 2001, terminally ill cancer patients with solid tumours who fulfilled the eligibility criteria were included. All of them were coded Do Not Resuscitate (DNR). Clinical estimation of survival as well as recording of different symptoms and signs was carried out for each patient. Survival was calculated from the date of the DNR coding to the date of death. A total of 162 patients were included. Mean survival time was 41.5 days (median 10 days). The gastrointestinal tract (GIT) was the most common site of malignant disease, followed by the breast. Univariate analysis of evaluable patients showed that performance status (PS), dry mouth, presence of delirium, anorexia, peripheral oedema, absence of bone metastasis, low lymphocyte count and low albumin level had significant effects on survival. Multiple regression analysis showed that PS and oedema were the only independent predictors of survival. Clinical prediction of survival was correlated with observed survival. Patient's PS, presence of peripheral oedema and clinical estimate of survival are good predictors of survival in terminally ill cancer patients.