Abstract
Background
A testicular germ cell tumour (TGCT) predisposing gene has been mapped to the Xq27
region on the X chromosome. These linkage findings remain to be confirmed by other
studies.
Methods
In 276 patients and 169 unaffected first-degree male relatives, 12 microsatellite
markers covering the candidate region were genotyped and used to study possible association
of TGCT with Xq27.
Results
In contrast to previously reported linkage of familial TGCT and cryptorchidism with
Xq27, we observed an association between the subset of TGCT cases without a family
history of TGCT or cryptorchism and marker DXS1193 (p = 0.014). Carriers of minor alleles were at increased risk (odds ratio (OR) 4.7, confidence
interval (CI) 1.1–19.6)
Conclusion
We found an association on Xq27 in a subset of TGCT cases, which suggests the presence
of an X-linked gene that slightly or moderately increases risk to develop sporadic
TGCT but not cryptorchidism.
Keywords
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Article info
Publication history
Accepted:
March 10,
2006
Received in revised form:
March 8,
2006
Received:
August 24,
2005
Identification
Copyright
© 2006 Elsevier Ltd. Published by Elsevier Inc. All rights reserved.