BRCA1 and BRCA2 genes mutations among high risk breast cancer patients in Jordan

Abstract

Familial breast cancer is estimated to account for 15–20% of all cases of breast cancer. Surveillance for familial breast cancer is well-established world-wide. However, this service does not exist in Jordan, due to the scarcity of information with regard to the genetic profiling of these patients, and therefore lack of recommendations for policy-makers. As such, patients with very strong family history of breast or ovarian cancers are not screened routinely; leading to preventable delay in diagnosis. Whole coding sequencing for BCRA1/BCRA2 using next-generation sequencing (NGS)/Ion PGM System was performed. Sanger sequencing were then used to confirm the pathogenic variants detected by NGS. In this study, 192 breast cancer patients (and 8 ovarian cancer cases) were included. The prevalence of recurrent pathogenic mutations was 14.5%, while the prevalence of newly detected mutations was 3.5%. Two novel pathogenic mutations were identified in BRCA2 genes. The common mutations in the Ashkenazi population used for screening may not apply in the Jordanian population, as previously reported mutations were not prevalent, and other new mutations were identified. These data will aid to establish a specific screening test for BRCA 1/BRCA2 in the Jordanian population.

Differences in clinicopathological characteristics, treatment, and survival outcomes between older and younger breast cancer patients

“…The local cancer registry reports reveal that 20.5% of all BC cases in Jordan occur in women younger than 40 16 , in contrast with the reported 10.2% of BC cases occurring before the age of 45 in the United States 10 . These observations, along with the relatively high rate of BRCA1- and BRCA2- associated BC cases reported among Jordanian patients, can be considered as additional key factors that contribute to a genetically-enriched landscape for BC disease patterns, with potential for distinctive age-defined outcomes 17 , 18 . This study managed to identify the ways by which the Jordanian BC population both adhered to, or deviated from, the global trends of age-related differences in breast cancer presentation and treatment outcomes.…”

Germline variants profiling of BRCA1 and BRCA2 in Chinese Hakka breast and ovarian cancer patients

“…Another common mutation BRCA1 c.3756_3759delGTCT has been detected in some populations, such as Thai [55], Polish [56], Belarusian [57], Italian [58], French-Canadian [59], and Czech populations [60]. BRCA1 c.4065_4068del has been detected in some populations [61][62][63]. Another study showed that c.4065_4068del is one of the three most common BRCA1 variants in Chinese ovarian cancer patients [47].…”

Mangifera indica (Mango): A Promising Medicinal Plant for Breast Cancer Therapy and Understanding Its Potential Mechanisms of Action

“… 4 In fact, only 5–10% of breast cancer cases are thought to have a genetic background, with BRCA1/2 germline mutations contributing to approximately 50% of these hereditary cases. 5 , 6 …”

“…4 In fact, only 5-10% of breast cancer cases are thought to have a genetic background, with BRCA1/2 germline mutations contributing to approximately 50% of these hereditary cases. 5,6 Breast cancer is a heterogenous disease owing to the existence of molecular and phenotypic variations within a patient's tumor (intra-tumoral heterogeneity) and between different patients' tumors (inter-tumoral heterogeneity). 7 Based on immunohistochemistry and gene expression profiling, breast cancer can be classified into different biological subtypes.…”