Lip cancer and pre-cancerous lesions harbor XXXX mutations, exhibit allelic loss at 9p, 9q, and 17p, but no BRAFV600E mutations.

@entity957 @entity15608 @entity876 @entity8554 @entity817
Molecular mechanisms of @entity957 ( @entity957 ) and @entity15608 ( @entity15608 ) are unclear. We aimed at assessing loss of heterozygosity (LOH) and @entity876 and @entity817 @entity8554 mutations in these lesions. Formalin-fixed paraffin-embedded (FFPE) samples of 17 @entity957 and 16 @entity15608 were included, with additional 5 fresh @entity957 genotyped for @entity876 mutations. LOH was assessed by six polymorphic markers located at 9p22, 9q22, and 17p13 and correlated with cell proliferation (Ki-67) and @entity876 immunostaining. Direct sequencing of @entity876 exons 2-11 (fresh samples), and exons 5-9 (FFPE samples) was carried out. @entity817 @entity8554 mutation was genotyped in eight @entity957 . LOH occurred in at least one marker in 15/17 @entity957 and in 9/16 @entity15608 . The marker exhibiting the highest frequency of allelic loss (FAL) in @entity957 was D9S157 (8/12 informative cases) and D9S287 in @entity15608 (4/11 informative cases). Cell proliferation was not correlated with LOH or with the FAL and no correlation between @entity876 IHC and 17p LOH  was observed. We found @entity876 missense mutations in both lesions and nonsense in @entity957 , including CC>TT transition, which is a marker of UV damage. @entity817 @entity8554 mutation was not detected. LOH and @entity876 mutations detected in @entity957 and @entity15608 may be associated with tumorigenesis, whereas @entity817 @entity8554 mutation does not seem to significantly contribute to @entity957 pathogenesis.
