ArticleFamilial cancer2005
High prevalence of two BRCA1 mutations, 4154delA and 5382insC, in Latvia.
Article in Familial cancer, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 54 citations in OpenAlex.
- Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.BMC cancer · 2022Pooled it
- Hereditary cancer: Germline testing practices across ERN GENTURIS member countries.European journal of human genetics : EJHG · 2026Article
- Frequency of Founder Mutations inCancers · 2026Review
- Article
- Immunohistochemical Detection of the Expressed BRCA1 and BRCA2 Proteins in Microenvironment of Malignant Breast Cancerous Tissues Infected with Human Mammary Tumor Virus.Asian Pacific journal of cancer prevention : APJCP · 2023Article
- Polygenic Risk Score Predicts Modified Risk inCancers · 2023Article
- BRCA1 and BRCA2 mutations in ovarian cancer patients from Belarus: update.Hereditary cancer in clinical practice · 2021Article
- A novel frequent BRCA1 recurrent variant c.5117G > A (p.Gly1206Glu) identified after 20 years of BRCA1/2 research in the Baltic region: cohort study and literature review.Hereditary cancer in clinical practice · 2021Article
- Prevalence of two BRCA1 mutations, 5382insC and 300T > G, in ovarian cancer patients from Ukraine.Familial cancer · 2017Article
- Establishing a clinic-based pancreatic cancer and periampullary tumour research registry in Quebec.Current oncology (Toronto, Ont.) · 2015Article
- Recurrent BRCA1 and BRCA2 mutations in Mexican women with breast cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2015Article
- Cumulative Small Effect Genetic Markers and the Risk of Colorectal Cancer in Poland, Estonia, Lithuania, and Latvia.Gastroenterology research and practice · 2015Article
- BRCA1 founder mutations compared to ovarian cancer in Belarus.Familial cancer · 2014Article
- BRCA1/2 mutation screening in high-risk breast/ovarian cancer families and sporadic cancer patient surveilling for hidden high-risk families.BMC medical genetics · 2013Article
- A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.BioMed research international · 2013Review
- Genotype-phenotype correlations among BRCA1 4153delA and 5382insC mutation carriers from Latvia.BMC medical genetics · 2011Article
- BRCA mutations in the management of breast cancer: the state of the art.Nature reviews. Clinical oncology · 2010Review
- Population screening for hereditary and familial cancer syndromes in Valka district of Latvia.Hereditary cancer in clinical practice · 2010Article
- Hereditary breast-ovarian cancer syndrome in Russia.Acta naturae · 2010Article
- Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.The EPMA journal · 2010Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Our aim was to characterise the germline BRCA1 mutation profile in Latvian breast cancer and ovarian cancer patients, to develop an effective BRCA1 gene mutation detection strategy, and to document genotype-phenotype correlations in mutation carriers. The entire BRCA1 gene was analysed in 75 breast cancer and 30 ovarian cancer patients. Screening for three mutations (5382insC, 4154delA and 300T>G) was carried out in 55 breast cancer and 66 ovarian cancer patients, and for two mutations, 5382insC and 4154delA, in 376 unselected patients with any cancer (including 51 breast cancer and 29 ovarian cancers) and 215 women with any gynaecological tumour. Mutation detection techniques used were SSCP/HD analysis or F-SSCP (ABI PRISM 310). Five different deleterious mutations were detected by analysis of the entire BRCA1 gene. The proportion of cases with mutations amongst 50 breast cancer patients diagnosed before 48 years was 26.0% (95% CI: 14.6-40.3%). Two mutations (5382insC and 4154delA) made up more than 80% of all mutations identified by the analysis of the entire BRCA1 gene in Latvia, at present. Further screening for only the prevalent mutations in different cancer patient groups resulted in the identification of 53 more mutation carriers. We conclude that breast cancer diagnosed before the age of 48 years and ovarian cancer before 65 years are criteria for DNA testing to be offered to women in Latvia, regardless of cancer history in the family. The observed associations of specific prevalent mutations with cancer site and age at onset of disease are discussed.
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