Search

Abstract Background Breast cancer incidence has been on the rise significantly in the Asian population, occurring at an earlier age and a later stage. The potential predictive value of molecular subtypes, biomarkers, and genetic variations has not been deeply explored in the Asian population. This study evaluated the effect of molecular subtype classification and the presence or absence of biomarkers and genetic variations on pathological complete response (pCR) after neoadjuvant treatment in Asian breast cancer patients. Methods A systematic search was conducted in MEDLINE (PubMed), Science Direct, Scopus, and Cochrane Library databases. Studies were selected if they included Asian breast cancer patients treated with neoadjuvant chemotherapy and contained data for qualitative or quantitative analyses. The quality of the included studies was assessed using the Newcastle Ottawa Scale. Following the random effects model, pooled odds ratios or hazard ratios with 95% confidence intervals for pCR were analysed using Review Manager Software. Heterogeneity between studies was assessed using Cochran’s Q-test and I 2 test statistics. Results In total, 19,708 Asian breast cancer patients were pooled from 101 studies. In the neoadjuvant setting, taxane-anthracycline (TA) chemotherapy showed better pCR outcomes in triple-negative breast cancer (TNBC) (p

The world has been experiencing encouraging research in genetics, but current public knowledge, awareness, and perception of this area remain unknown for Brunei Darussalam. This study aimed to investigate the Brunei population’s genetics and genetic testing literacy, and their attitude toward them. A cross-sectional study was carried out targeting public population in Brunei Darussalam. Questionnaires on knowledge and attitudes were randomly distributed in frequented venues in the Brunei–Muara district and uploaded online for distribution through social media. Responses were scored and analyzed using appropriate statistical methods. Overall, the sample population (n = 474) comprised 75.7% female, 64.3% aged 18–29 years old, 39.7% with a bachelor’s degree, and 2.3% and 5.3% with a personal history and family history of genetic disease(s), respectively. Younger participants scored higher for disease-related questions and showed more concern on the impact of testing on employment but were more fearful of testing. Higher educational qualifications were associated with a higher knowledge score, a more optimistic view on DNA research, and less reluctance to take a genetic test for an untreatable disease. Participants with a personal history of genetic disease(s) were more knowledgeable and displayed higher curiosity. Participants with a family history of genetic disease(s) were also more knowledgeable and would want testing even for an untreatable disease. Significantly less was known about the social consequences of testing compared to the medical possibilities. Investigating the knowledge and attitudes of the population is vital preceding efforts toward national adaptation of genetic testing, keeping in mind the various obstacles and issues surrounding the subject.

Background: Breast cancer is the most frequent malignancy affecting women worldwide. The majority of breast cancer occurs sporadically, with only 5-10% being caused by inheritance of susceptibility genes. In Brunei Darussalam, breast cancer is the leading cause of cancer in women. The prevalence and clinical relevance of breast cancer susceptibility genes in Brunei breast cancer patients is unknown. We investigated the prevalence and clinical relevance of germline TP53 and PALB2 genes, recognised to confer a high and moderate risk respectively, in the development of breast cancer in an unselected cohort of Brunei breast cancer patients. Methods: Genomic DNA was extracted from peripheral blood samples of 54 unselected Brunei breast cancer patients. The DNA samples were sequenced for germline BRCA1, BRCA2, TP53, and PALB2 variants using targeted panel sequencing on a Hi-Plex NGS platform. Identified variants were analysed for their pathogenicity classification based on clinical/population/mutation databases, in-silico data, and available functional data analysis. Chi-square test was used to determine the association between TP53 codon 72 and response to chemotherapy in Brunei breast cancer patients. Results: We identified two TP53 and five PALB2 missense variants in our study population. Five of the identified variants were classified as variants of uncertain significance (one in TP53 and four in PALB2) giving a prevalence of TP53 and PALB2 variant of uncertain significance carriers at 1.9% and 9.3%, respectively. No pathogenic TP53 and PALB2 mutation was identified in this study suggesting the rarity of these genes in breast cancer. TP53 codon 72 had no association with Brunei breast cancer patients’ response to chemotherapy supporting the benign characteristic of the variant P72R. Conclusions: Our current findings suggest that the contribution of germline TP53 and PALB2 genes in unselected Brunei breast cancer patients is rare, and a larger number of participants will be required to confirm this finding.