ArticlePloS one2008
BRCA1 and BRCA2 germline mutations in Malaysian women with early-onset breast cancer without a family history.
Article in PloS one, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 53 citations in OpenAlex.
- The prevalence of BRCA mutations among familial breast cancer patients in Korea: results of the Korean Hereditary Breast Cancer study.Familial cancer · 2013Trial
- Recent Advances in Genetic Testing and Clinical Management of Hereditary Breast and Ovarian Cancer (HBOC) in India.Cancer medicine · 2026Review
- Prevalence and spectrum of germline BRCA1 and BRCA2 mutations in multiethnic cohort of breast cancer patients in Brunei Darussalam.PloS one · 2025Article
- Risk-Stratified Breast Cancer Screening in Malaysia: Challenges and Opportunities.Asian Pacific journal of cancer prevention : APJCP · 2024Review
- Article
- Epidemiological and ES cell-based functional evaluation of BRCA2 variants identified in families with breast cancer.Human mutation · 2021Article
- Article
- Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.Human mutation · 2018Article
- Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer.BMC medical genetics · 2017Article
- Novel and reported pathogenic variants in exon 11 of BRCA2 gene in a cohort of Sri Lankan young breast cancer patients.Familial cancer · 2017Article
- Clinical Variant Classification: A Comparison of Public Databases and a Commercial Testing Laboratory.The oncologist · 2017Article
- Characterization of BRCA1 and BRCA2 variants in multi-ethnic Asian cohort from a Malaysian case-control study.BMC cancer · 2017Article
- The importance of BRCA1 and BRCA2 genes mutations in breast cancer development.Medical journal of the Islamic Republic of Iran · 2016Review
- Distribution of BRCA1 and BRCA2 Mutations in Asian Patients with Breast Cancer.Journal of breast cancer · 2013Review
- A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.BioMed research international · 2013Review
- Methylation of BRCA1 promoter region is associated with unfavorable prognosis in women with early-stage breast cancer.PloS one · 2013Article
- Prevalence of PALB2 mutations in breast cancer patients in multi-ethnic Asian population in Malaysia and Singapore.PloS one · 2013Article
- BRCA1/BRCA2 gene mutations/SNPs and BRCA1 haplotypes in early-onset breast cancer patients of Indian ethnicity.Medical oncology (Northwood, London, England) · 2012Article
- Triple-negative breast cancer and PTEN (phosphatase and tensin homologue) loss are predictors of BRCA1 germline mutations in women with early-onset and familial breast cancer, but not in women with isolated late-onset breast cancer.Breast cancer research : BCR · 2012Article
- Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon.Hereditary cancer in clinical practice · 2012Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundIn Asia, breast cancer is characterised by an early age of onset: In Malaysia, approximately 50% of cases occur in women under the age of 50 years. A proportion of these cases may be attributable, at least in part, to genetic components, but to date, the contribution of genetic components to breast cancer in many of Malaysia's ethnic groups has not been well-characterised. METHODOLOGY: Given that hereditary breast carcinoma is primarily due to germline mutations in one of two breast cancer susceptibility genes, BRCA1 and BRCA2, we have characterised the spectrum of BRCA mutations in a cohort of 37 individuals with early-onset disease (<or=40 years) and no reported family history. Mutational analysis of BRCA1 and BRCA2 was conducted by full sequencing of all exons and intron-exon junctions.
conclusionsHere, we report a total of 14 BRCA1 and 17 BRCA2 sequence alterations, of which eight are novel (3 BRCA1 and 5 BRCA2). One deleterious BRCA1 mutation and 2 deleterious BRCA2 mutations, all of which are novel mutations, were identified in 3 of 37 individuals. This represents a prevalence of 2.7% and 5.4% respectively, which is consistent with other studies in other Asian ethnic groups (4-9%).
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