Publications by authors named "Eldarina Wijaya"
Background: Clinical management of Asian and pathogenic variants (PV) carriers remains challenging due to imprecise age-specific breast (BC) and ovarian cancer (OC) risks estimates. We aimed to refine these estimates using six multi-ethnic studies in Asia.
Methods: Data were collected on 271 and 301 families from Malaysia and Singapore, ascertained through population/hospital-based case-series (88%) and genetic clinics (12%).
Article Synopsis
- - The study highlights the need for effective strategies to identify carriers of altered BRCA genes in Asian patients due to the growing use of poly (ADP-ribose) polymerase inhibitors for cancer treatment, which shows disparities in existing mutation prediction tools mainly designed for women of European descent.
- - Researchers developed the Asian Risk Calculator, assessing 8,162 Asian breast cancer patients, which incorporated factors like age, ethnicity, tumor characteristics, and family history to predict the likelihood of carrying a pathogenic BRCA variant.
- - The new model demonstrated improved accuracy and efficiency in identifying mutation carriers, reducing unnecessary referrals for genetic counseling, suggesting that tailored mutation prediction models are crucial for enhancing cancer genetics services in diverse populations.
Article Synopsis
- This study addresses the lack of representation of non-European populations in genetics research, focusing on developing breast cancer polygenic risk scores (PRSs) for women of Asian ancestry.
- It utilized a large dataset of over 138,000 women from various studies to generate different PRS models and tested their effectiveness across diverse ethnic groups, ultimately showing a strong hazard ratio for predicting breast cancer risk.
- The findings highlight the need for population-specific adaptations of PRSs to improve breast cancer risk assessment and move towards better clinical applications for Asian women.
Article Synopsis
- Scientists are studying special gene changes (called PTVs) to see how they affect breast cancer in 8,852 Asian patients.
- They found that having these gene changes is linked to more aggressive tumors, which are harder to treat.
- Overall survival rates for patients with these gene changes were lower, suggesting that some genes might play a role in how long patients live after being diagnosed with breast cancer.
Background: Rare protein-truncating variants (PTVs) in partner and localiser of BRCA2 () confer increased risk to breast cancer, but relatively few studies have reported the prevalence in South-East Asian populations. Here, we describe the prevalence of rare variants in in a population-based study of 7840 breast cancer cases and 7928 healthy Chinese, Malay and Indian women from Malaysia and Singapore, and describe the functional impact of germline missense variants identified in this population.
Methods: Mutation testing was performed on germline DNA (n=15 768) using targeted sequencing panels.
The discovery of high-risk breast cancer susceptibility genes, such as Breast cancer associated gene 1 (BRCA1) and Breast cancer associated gene 2 (BRCA2) has led to accurate identification of individuals for risk management and targeted therapy. The rapid decline in sequencing costs has tremendously increased the number of individuals who are undergoing genetic testing world-wide. However, given the significant differences in population-specific variants, interpreting the results of these tests can be challenging especially for novel genetic variants in understudied populations.
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