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Although infrequently mutated in spontaneous tumours, LKB1 point mutations were seen in a pattern mirroring those seen in association with PJS, including cervix, gastrointestinal, and pancreas (Avizienyte et al, 1999; Sanchez-Cespedes, 2007).
There was no difference in frequency between low and high grade tumors and TSC1 mutations were seen in FGFR3, PIK3CA, and in TP53 mutated cases.
Non-p.V600E codon 600 mutations were seen in 8 of 68 (12%%) BRAF-mutated melanomas.
No nucleotide mutations were found in this data set, consistent with the frequency at which B2M nucleotide mutations were seen in the Van Allen data set.
In addition, unlike DMD and LAMA2 which were deleted, only missense mutations were seen in TTN, as has been reported in a number of other tumor types and is not unexpected given the large size of the TTN gene21,22.
No mutations were seen in H-ras, and only 2 of 172 (1.2%) tumors had K-ras mutations.
Similar(19)
GWAS mutations are seen because, though puny, they are common.
BRAF mutations are seen in about 10%% of mucosal melanomas.
CDKN2A shows homozygous deletions in up to 30% of UC [8] whereas inactivating sequence mutations is seen to a lesser extent.
A significantly higher proportion of PIK3CA mutations was seen in Ta cases compared to T1 (p<0.05, Chi-2 test), but not between T1 and ≥T2, or between NMI and MI cases.
SOX10 mutations are seen in melanoma as well (18).
More suggestions(15)
mutants were seen
moves were seen
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mutations were hitherto
mutations were found
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mutations were identified
mutations were selected
mutations were described
mutations were detected
mutations were eliminated
mutations were verified
mutations were analyzed
mutations were confirmed
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