ArticleBreast cancer research and treatment2017
Prevalence and spectrum of germline rare variants in BRCA1/2 and PALB2 among breast cancer cases in Sarawak, Malaysia.
Article in Breast cancer research and treatment, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 2 of them syntheses that pooled it.
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Who cites it
21 citing papers in PubMed, 2 syntheses or guidelines pooled it, 38 citations in OpenAlex.
- Global prevalence and ethnic variation of pathogenic BRCA1/2 variants in breast cancer: a systematic review and meta-analysis.Journal of translational medicine · 2026Pooled it
- Germline rare variants in HER2-positive breast cancer predisposition: a systematic review and meta-analysis.Frontiers in oncology · 2024Pooled it
- Mutational spectrum and profile of breast and ovarian cancer patients in Saudi Arabia's western region: single center experience.Discover oncology · 2025Article
- Prevalence and spectrum of germline BRCA1 and BRCA2 mutations in multiethnic cohort of breast cancer patients in Brunei Darussalam.PloS one · 2025Article
- Clinicopathological Features and Oncological Outcomes of Germline Partner and Localizer of Breast Cancer 2-Mutated Breast Cancer in Korea.Journal of breast cancer · 2024Article
- Genetic associations with human longevity are enriched for oncogenic genes.medRxiv : the preprint server for health sciences · 2024Article
- Spectrum and characteristics of germline PALB2 pathogenic variants in 1556 early-onset breast cancer patients in China.Journal of cancer research and clinical oncology · 2024Article
- Exome Sequencing Reveals Novel Germline Variants in Breast Cancer Patients in the Southernmost Region of Thailand.Journal of personalized medicine · 2023Article
- Article
- Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.PloS one · 2023Article
- Article
- Predicting the Likelihood of Carrying aJournal of clinical oncology : official journal of the American Society of Clinical Oncology · 2022Article
- Medical guidelines for Li-Fraumeni syndrome 2019, version 1.1.International journal of clinical oncology · 2021Article
- Under-ascertainment of breast cancer susceptibility gene carriers in a cohort of New Zealand female breast cancer patients.Breast cancer research and treatment · 2021Article
- Article
- BRCA1 and BRCA2 Germline Mutation Analysis in Hereditary Breast/Ovarian Cancer Families from the Aures Region (Eastern Algeria): First Report.Pathology oncology research : POR · 2020Article
- BRCA1-No Matter How You Splice It.Cancer research · 2019Review
- Breast cancer risk factors, survival and recurrence, and tumor molecular subtype: analysis of 3012 women from an indigenous Asian population.Breast cancer research : BCR · 2018Article
- Therapeutic landscape in mutational triple negative breast cancer.Molecular cancer · 2018Review
- Pan-cancer repository of validated natural and cryptic mRNA splicing mutations.F1000Research · 2018Article
Corrections and comments
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Authors and funding
19 authors at 5 institutions in 3 countries.
Funding
Abstract
purposeTo characterize the spectrum of germline mutations in BRCA1, BRCA2, and PALB2 in population-based unselected breast cancer cases in an Asian population.
methodsGermline DNA from 467 breast cancer patients in Sarawak General Hospital, Malaysia, where 93% of the breast cancer patients in Sarawak are treated, was sequenced for the entire coding region of BRCA1; BRCA2; PALB2; Exons 6, 7, and 8 of TP53; and Exons 7 and 8 of PTEN. Pathogenic variants included known pathogenic variants in ClinVar, loss of function variants, and variants that disrupt splice site.
resultsWe found 27 pathogenic variants (11 BRCA1, 10 BRCA2, 4 PALB2, and 2 TP53) in 34 patients, which gave a prevalence of germline mutations of 2.8, 3.23, and 0.86% for BRCA1, BRCA2, and PALB2, respectively. Compared to mutation non-carriers, BRCA1 mutation carriers were more likely to have an earlier age at onset, triple-negative subtype, and lower body mass index, whereas BRCA2 mutation carriers were more likely to have a positive family history. Mutation carrier cases had worse survival compared to non-carriers; however, the association was mostly driven by stage and tumor subtype. We also identified 19 variants of unknown significance, and some of them were predicted to alter splicing or transcription factor binding sites.
conclusionOur data provide insight into the genetics of breast cancer in this understudied group and suggest the need for modifying genetic testing guidelines for this population with a much younger age at diagnosis and more limited resources compared with Caucasian populations.
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