ArticleJournal of medical genetics2002
High frequency of skewed X inactivation in young breast cancer patients.
Article in Journal of medical genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
What it found
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Who cites it
28 citing papers in PubMed, 93 citations in OpenAlex.
- Selected estrogen receptor 1 and androgen receptor gene polymorphisms in relation to risk of breast cancer and fibrocystic breast conditions among Chinese women.Cancer epidemiology · 2011Trial
- X chromosome inactivation skewing is common in advanced carotid atherosclerotic lesions in females and predicts secondary peripheral artery events.Biology of sex differences · 2023Article
- Age acquired skewed X chromosome inactivation is associated with adverse health outcomes in humans.eLife · 2022Article
- BEXCIS: Bayesian methods for estimating the degree of the skewness of X chromosome inactivation.BMC bioinformatics · 2022Article
- Preferential X Chromosome Inactivation as a Mechanism to Explain Female Preponderance in Myasthenia Gravis.Genes · 2022Article
- Heritability of skewed X-inactivation in female twins is tissue-specific and associated with age.Nature communications · 2019Article
- Exosomal FMR1-AS1 facilitates maintaining cancer stem-like cell dynamic equilibrium via TLR7/NFκB/c-Myc signaling in female esophageal carcinoma.Molecular cancer · 2019Article
- A statistical measure for the skewness of X chromosome inactivation based on family trios.BMC genetics · 2018Article
- Selection of X-chromosome Inactivation Model.Cancer informatics · 2017Article
- The human sex ratio from conception to birth.Proceedings of the National Academy of Sciences of the United States of America · 2015Article
- X-chromosome genetic association test accounting for X-inactivation, skewed X-inactivation, and escape from X-inactivation.Genetic epidemiology · 2014Article
- Sex-biased chromatin and regulatory cross-talk between sex chromosomes, autosomes, and mitochondria.Biology of sex differences · 2014Article
- High-resolution chromosomal microarray analysis of early-stage human embryonic stem cells reveals an association between X chromosome instability and skewed X inactivation.Cell & bioscience · 2014Article
- High frequency of the X-chromosome inactivation in young female patients with high-grade glioma.Diagnostic pathology · 2013Article
- Skewed X-chromosome inactivation in patients with esophageal carcinoma.Diagnostic pathology · 2013Article
- Inactivation of X-linked tumor suppressor genes in human cancer.Future oncology (London, England) · 2012Review
- Skewed X inactivation and survival: a 13-year follow-up study of elderly twins and singletons.European journal of human genetics : EJHG · 2012Article
- Article
- A skewed view of X chromosome inactivation.The Journal of clinical investigation · 2008Article
- Extremely skewed X-chromosome inactivation is increased in pre-eclampsia.Human genetics · 2007Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionPatients with invasive ovarian cancer were recently shown to have a higher frequency of skewed X chromosome inactivation in peripheral blood cells compared to patients with borderline cancer and controls. In this study, we analysed the X inactivation pattern in peripheral blood from 216 breast cancer patients.
methodsX inactivation analysis was performed using HpaII predigestion of DNA followed by PCR of the highly polymorphic CAG repeat of the androgen receptor gene (AR), which amplifies the undigested inactive X chromosome only. The X inactivation pattern was classified as skewed when 90% or more of the cells preferentially used one X chromosome.
resultsYoung breast cancer patients (27-45 years) had a higher frequency of skewed X inactivation than young controls (13 and 1%, respectively) (p=0.009), whereas no difference was found for middle aged and older patients compared to controls of a similar age.
conclusionsA germline mutation in an X linked tumour suppressor gene may give a proliferative advantage to cells with this mutation on the active X chromosome, thus causing skewed X inactivation and an increased risk for developing cancer. Another possible explanation could be that females with a constitutionally skewed X inactivation pattern are more susceptible to develop breast cancer because of an X linked low penetrance susceptibility allele that is affected by the inactivation pattern.
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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.