ArticleFamilial cancer2007
Heterozygote BRCA1 status and skewed chromosome X inactivation.
Article in Familial cancer, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 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.
The trial behind it
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Who cites it
2 citing papers in PubMed, 7 citations in OpenAlex.
- Transmission of X-linked Ovarian Cancer: Characterization and Implications.Diagnostics (Basel, Switzerland) · 2020Article
- Impact of BRCA mutations on female fertility and offspring sex ratio.American journal of human biology : the official journal of the Human Biology CouncilArticle
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A high frequency of skewed X-chromosome inactivation has been reported in peripheral blood lymphocytes from early onset breast cancer or invasive ovarian cancer patients. Recent findings have shown that breast and ovarian carcinoma cells from BRCA1 mutation carrier women lack the hallmarks of inactive X chromatin structure. These observations suggested that loss of functional BRCA1 in female cells may perturb the process of X inactivation and have lead us to the hypothesis that analysis of skewing could be used as a predictive test for BRCA1 germline mutation in lymphocytes from breast cancer patients. In the present study, we have compared the X inactivation pattern in lymphoblastoid cell lines from 38 females carrying heterozygous BRCA1 mutation to 41 controls. X inactivation analysis was assessed on the polymorphic CAG repeat within the human androgen receptor gene. Our observations rule out an effect of a monoallelic BRCA1 germline mutation on the choice of inactivated chromosome X and therefore the possibility of using analysis of Xi skewing as a predictive test for BRCA1 germline mutation carrier status.
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Registered trials
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