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Updated: May 24, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
[Lessons learned from the "Quirra syndrome" epidemiology? No, thanks]
1Dipartimento di sanità pubblica, Sezione di medicina del lavoro, Università di Cagliari, Italy. coccop@medicina.unica.it
Abstract:
Since January 2011, media reports have been reviving claims about a presumed excess of haemolymphopoietic cancer in south-eastern Sardinia, Italy, that started 10 years before.The almost daily sequence of articles created alarm in the local population, and a judicial investigation was initiated. The present commentary discusses possible reasons for the perception of an excess of haemolymphopoietic cancer, which was not confirmed by four independent epidemiological investigations. The update 2003 of the spatial analysis of haemolymphopoietic cancer incidence in southern Sardinia, on the other hand, commissioned by the local health authorities, has suggested an elevated risk of leukaemia among males residing in areas far from those reported at risk.No action followed. It is unclear why the regional authorities do not use the epidemiological investigations commissioned by themselves, whatever the results are either negative or positive for possible environmental health problems.
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