ArticleBreast cancer research and treatment2021
Thai patients who fulfilled NCCN criteria for breast/ovarian cancer genetic assessment demonstrated high prevalence of germline mutations in cancer susceptibility genes: implication to Asian population testing.
Article in Breast cancer research and treatment, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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14 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- Value of Conventional MRI, DCE-MRI, and DWI-MRI in the Discrimination of Metastatic from Non-Metastatic Lymph Nodes in Rectal Cancer: A Systematic Review and Meta-Analysis Study.Asian Pacific journal of cancer prevention : APJCP · 2023Pooled it
- Comprehensive Germline Profiling of High-Grade Serous Ovarian Cancer Using Whole-Exome Sequencing.International journal of molecular sciences · 2026Article
- Identifying the germline variation spectrum and predisposition genes in Chinese ovarian cancer using whole exome sequencing.BMC cancer · 2025Article
- Application of genetic testing criteria for hereditary breast cancer in South Africa.Breast cancer research and treatment · 2025Article
- Comprehensive breast cancer risk analysis with whole exome sequencing and the prevalence ofBiomedical reports · 2024Article
- Germline mutations of 4567 patients with hereditary breast-ovarian cancer spectrum in Thailand.NPJ genomic medicine · 2024Article
- Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.Cancers · 2023Review
- Deleterious and ethnic-related BRCA1/2 mutations in tissue and blood of Egyptian colorectal cancer patients and its correlation with human papillomavirus.Clinical and experimental medicine · 2023Article
- Exome Sequencing Reveals Novel Germline Variants in Breast Cancer Patients in the Southernmost Region of Thailand.Journal of personalized medicine · 2023Article
- Genomic medicine and cancer clinical trial in Thailand.Cancer biology & medicine · 2023Article
- Article
- Prevalence of Pathogenic Germline Mutations in 13 Hereditary Cancer-Related Genes in Breast Cancer Patients in Narathiwat Province, Thailand.Asian Pacific journal of cancer prevention : APJCP · 2023Article
- A cost-utility analysis ofFrontiers in public health · 2023Article
- Germline variants profiling of BRCA1 and BRCA2 in Chinese Hakka breast and ovarian cancer patients.BMC cancer · 2022Article
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Authors and funding
13 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundGermline genetic mutation plays a significant role in breast cancer susceptibility. The strength of such predisposition varies among ethnic groups across the globe, and clinical data from Asian population to develop a strategic approach to who should undergo a genetic test are lacking.
methodsWe performed a multigene test with next generation sequencing in Thai patients whose clinical history fulfilled NCCN criteria for breast/ovarian cancer genetic assessment, consists of 306 breast cancer patients, 62 ovarian cancer patients, 14 pancreatic cancer patients and 7 prostate cancer patients. Genetic test result and clinical history were then checked with each NCCN criteria to determined detection rate for each indication.
resultsThere were 83 pathogenic/likely pathogenic (P/LP) variants identified in 104 patients, 44 of these P/LP variants were novel. We reported a high rate of germline P/LP variants in breast cancer (24%), ovarian cancer (37%), pancreatic cancer (14%), and prostate cancer (29%). Germline P/LP variants in BRCA1 and BRCA2 accounted for 80% of P/LP variants found in breast cancer and 57% of P/LP variants found in ovarian cancer. The detection rate of patients who fulfilled NCCN 2019 guideline for genetic/familial high-risk assessment of breast and ovarian cancers was 22-40%.
conclusionOverall, the data from this study strongly support the consideration of multigene panel test as a diagnostic tool for patients with inherited cancer susceptibility in Thailand and Asian population. Implementation of the NCCN guideline is applicable, some modification may be needed to be more suitable for Asian population.
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