Abnormal mobility shifts in single strand conformational polymorphism
(SSCP)-analysis of exons 2 and 3 of the p53 gene in 2 out of 5 medulla
ry thyroid cancers (MTC) prompted us to sequence the corresponding gen
omic region spanning codons 9-32. We found no mutations of the conserv
ed domain I in the two MTCs that had previously shown mobility shifts,
nor in a third MTC case indicating wild-type p53 (in this region). Ho
wever, we detected a polymorphism consisting of a GC to CG transversio
n in intron 2 in two of the primary MTCs and one associated blood samp
le. In addition, we report on a deviation of the published sequence of
intron 2 affecting positions 11817-8 and 11874, seen in 7/7 samples a
nalyzed. Our findings corroborate the hypothesis, that MTC carcinogene
sis does not require p53 mutations (Yana et al, Jpn J Cancer Res 1992)
.