ArticleBreast cancer research : BCR2002
Novel mutations in the BRCA1 and BRCA2 genes in Iranian women with early-onset breast cancer.
Article in Breast cancer research : BCR, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed.
- The prevalence of BRCA mutations among familial breast cancer patients in Korea: results of the Korean Hereditary Breast Cancer study.Familial cancer · 2013Trial
- Mutational spectrum of BRCA1/2 genes in Moroccan patients with hereditary breast and/or ovarian cancer, and review of BRCA mutations in the MENA region.Breast cancer research and treatment · 2022Article
- A comprehensive reference for BRCA1/2 genes pathogenic variants in Iran: published, unpublished and novel.Familial cancer · 2022Article
- Contribution of BRCA1 and BRCA2 germline mutations to early onset breast cancer: a series from north of Morocco.BMC cancer · 2020Article
- Functionalisation of FeIET nanobiotechnology · 2020Article
- Mutations analysis ofMedical journal of the Islamic Republic of Iran · 2019Article
- Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries.Journal of medical genetics · 2016Review
- Evaluation of a newly discovered breast cancer susceptibility locus at 6q25.1 in Iranian Azari-Turkish women.Contemporary oncology (Poznan, Poland) · 2016Article
- BRCA1 and BRCA2 mutations in Iranian breast cancer patients: A systematic review.Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences · 2015Review
- BRCA1 polymorphism in breast cancer patients from Argentina.Oncology letters · 2015Article
- Minor role of BRCA2 mutation (Exon2 and Exon11) in patients with early-onset breast cancer amongst Iranian Azeri-Turkish women.Iranian journal of basic medical sciences · 2014Article
- Screening for genomic rearrangements at BRCA1 locus in Iranian women with breast cancer using multiplex ligation-dependent probe amplification.Journal of genetics · 2013Article
- Inhibition of hTERT Gene Expression by Silibinin-Loaded PLGA-PEG-Fe3O4 in T47D Breast Cancer Cell Line.BioImpacts : BI · 2013Article
- A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.BioMed research international · 2013Review
- Genetic counselling and testing for inherited gene mutations in newly diagnosed patients with breast cancer: a review of the existing literature and a proposed research agenda.Breast cancer research : BCR · 2008Review
- Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India.BMC medical genetics · 2006Article
- Mutation analysis of BRCA1 and BRCA2 genes in Iranian high risk breast cancer families.Journal of cancer research and clinical oncology · 2005Article
- High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area.Breast cancer research : BCR · 2005Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundBreast cancer is the most common female malignancy and a major cause of death in middle-aged women. So far, germline mutations in the BRCA1 and BRCA2 genes in patients with early-onset breast and/or ovarian cancer have not been identified within the Iranian population.
methodsWith the collaboration of two main centres for cancer in Iran, we obtained clinical information, family history and peripheral blood from 83 women under the age of 45 with early-onset breast cancer for scanning of germline mutations in the BRCA1 and BRCA2 genes. We analysed BRCA1 exons 11 and BRCA2 exons 10 and 11 by the protein truncation test, and BRCA1 exons 2, 3, 5, 13 and 20 and BRCA2 exons 9, 17, 18 and 23 with the single-strand conformation polymorphism assay on genomic DNA amplified by polymerase chain reaction.
resultsTen sequence variants were identified: five frameshifts (putative mutations - four novel); three missense changes of unknown significance and two polymorphisms, one seen commonly in both Iranian and British populations.
conclusionsIdentification of these novel mutations suggests that any given population should develop a mutation database for its programme of breast cancer screening. The pattern of mutations seen in the BRCA genes seems not to differ from other populations studied. Early-onset breast cancer (less than 45 years) and a limited family history is sufficient to justify mutation screening with a detection rate of over 25% in this group, whereas sporadic early-onset breast cancer (detection rate less than 5%) is unlikely to be cost-effective.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.