ArticleBMC cancer2005
A novel duplication polymorphism in the FANCA promoter and its association with breast and ovarian cancer.
Article in BMC cancer, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
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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.
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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.
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Who cites it
7 citing papers in PubMed, 21 citations in OpenAlex.
- DNA repair pathways in breast cancer: from mechanisms to clinical applications.Breast cancer research and treatment · 2023Review
- Clinical Benefit With PARP Inhibitor for Pathogenic GermlineFrontiers in oncology · 2022Article
- Comparisons of gene coexpression network modules in breast cancer and ovarian cancer.BMC systems biology · 2018Article
- A rare FANCA gene variation as a breast cancer susceptibility allele in an Iranian population.Molecular medicine reports · 2017Article
- Polymorphic variations in the FANCA gene in high-risk non-BRCA1/2 breast cancer individuals from the French Canadian population.Molecular oncology · 2013Article
- Role of genetic polymorphisms and ovarian cancer susceptibility.Molecular oncology · 2009Review
- BACH1 Ser919Pro variant and breast cancer risk.BMC cancer · 2006Article
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledThe FANCA gene is one of the genes in which mutations lead to Fanconi anaemia, a rare autosomal recessive disorder characterised by congenital abnormalities, bone marrow failure, and predisposition to malignancy. FANCA is also a potential breast and ovarian cancer susceptibility gene. A novel allele was identified which has a tandem duplication of a 13 base pair sequence in the promoter region.
methodsWe screened germline DNA from 352 breast cancer patients, 390 ovarian cancer patients and 256 normal controls to determine if the presence of either of these two alleles was associated with an increased risk of breast or ovarian cancer.
resultsThe duplication allele had a frequency of 0.34 in the normal controls. There was a non-significant decrease in the frequency of the duplication allele in breast cancer patients. The frequency of the duplication allele was significantly decreased in ovarian cancer patients. However, when malignant and benign tumours were considered separately, the decrease was only significant in benign tumours.
conclusionThe allele with the tandem duplication does not appear to modify breast cancer risk but may act as a low penetrance protective allele for ovarian cancer.
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