ArticleBritish journal of cancer2009
Contribution of BRCA1 germ-line mutations to breast cancer in Greece: a hospital-based study of 987 unselected breast cancer cases.
Article in British journal of cancer, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18 citing papers in PubMed, 36 citations in OpenAlex.
- Hereditary cancer: Germline testing practices across ERN GENTURIS member countries.European journal of human genetics : EJHG · 2026Article
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- Breast Cancer-Epidemiology, Classification, Pathogenesis and Treatment (Review of Literature).Cancers · 2022Review
- Follow-up of tissue genomics in BRCA1/2 carriers who underwent prophylactic surgeries.Breast cancer (Tokyo, Japan) · 2021Article
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- Germline Structural Variations in Cancer Predisposition Genes.Frontiers in genetics · 2021Review
- One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene.Journal of medical genetics · 2020Article
- A genetic variant in microRNA-146a is associated with sporadic breast cancer in a Southern Brazilian Population.Genetics and molecular biology · 2020Article
- Screening of BRCA1 variants c.190T>C, 1307delT, g.5331G>A and c.2612C>T in breast cancer patients from North India.Genetics and molecular biology · 2020Article
- Genetics of breast cancer in African populations: a literature review.Global health, epidemiology and genomics · 2018Review
- The importance of BRCA1 and BRCA2 genes mutations in breast cancer development.Medical journal of the Islamic Republic of Iran · 2016Review
- Establishing a clinic-based pancreatic cancer and periampullary tumour research registry in Quebec.Current oncology (Toronto, Ont.) · 2015Article
- Cumulative BRCA mutation analysis in the Greek population confirms that homogenous ethnic background facilitates genetic testing.Hereditary cancer in clinical practice · 2015Article
- Detection of a novel mutation in exon 20 of the BRCA1 gene.Cellular & molecular biology letters · 2013Article
- Article
- Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon.Hereditary cancer in clinical practice · 2012Article
- Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Greece.Hereditary cancer in clinical practice · 2011Article
- On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations.European journal of human genetics : EJHG · 2011Article
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11 authors at 4 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundIn most Western populations, 5-10% of all breast cancer cases can be attributed to major genetic factors such as predisposing mutations in BRCA1 and BRCA2, with early-onset cases generally considered as an indicator of genetic susceptibility. Specific BRCA1 and BRCA2 mutations or different mutation frequencies have been identified in specific populations and ethnic groups. Previous studies in Greek breast and/or ovarian cancer patients with family history have shown that four specific BRCA1 mutations, c.5266dupC, G1738R, and two large genomic rearrangements involving deletions of exons 20 and 24, have a prominent function in the population's BRCA1 and BRCA2 mutation spectrum.
methodsTo estimate the frequency of the above mutations in unselected Greek breast cancer women, we screened 987 unselected cases independently of their family history, collected from major Greek hospitals.
resultsOf the 987 patients, 26 (2.6%) were found to carry one of the above mutations in the BRCA1 gene: 13 carried the c.5266dupC mutation (1.3%), 6 carried the exon 24 deletion (0.6%), 3 carried the exon 20 deletion (0.3%), and 4 carried the G1738R mutation (0.4%). Among 140 patients with early-onset breast cancer (<40 years), 14 carried one of the four mutations (10.0%).
conclusionThese results suggest that a low-cost genetic screening for only the four prominent BRCA1 mutations may be advisable to all early-onset breast cancer patients of Greek origin.
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