ABSTRACT: High frequency of skewed X inactivation in young breast
Introduction: Patients 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.
Conclusions: A 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.
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.
[02/07/2002; Journal of Medical Genetics]
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