Journal
CLINICAL ONCOLOGY
Volume 20, Issue 5, Pages 375-379Publisher
ELSEVIER SCIENCE LONDON
DOI: 10.1016/j.clon.2008.01.007
Keywords
Bloom syndrome; cancer genetics; DNA repair defect
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We report a patient with Bloom syndrome, a rare autosomal recessive condition characterised by chromosomal instability leading to a high risk of cancer at an early age. The diagnosis should be considered in patients with any cancer of significantly early onset, short stature and a photosensitive lupus-like rash on the face. Diagnostic confirmation is obtained from chromosome studies that show significantly increased numbers of sister chromatid exchanges. There are important management implications, including minimising the use of ionising radiation in surveillance and treatment.
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