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Table 3 Mutations in UNC93A in tumours

From: The human homologue of unc-93 maps to chromosome 6q27 – characterisation and analysis in sporadic epithelial ovarian cancer

ALLELE LOSS

TUMOUR

AGE

STAGE

HISTOLOGY

DIFF.

149

297

193

264

EXON

MUTATION

NORMAL

32

62

III

endometrioid

poorly

NI

NI

NI

NI

3

c.452G>A, W151X*

Identical to the tumour

68

54

II

mucious

well

-

NI

-

-

3

c.452G>A, W151X *

Identical to the tumour

60

75

III

undifferentiated

poorly

NI

+

+

-

3

c.452G>A, W151X *

Identical to the tumour

50

47

I

serious

moderately

NI

-

-

-

3

c.452G>A, W151X *

Identical to the tumour

30

52

I

clear cell

moderately

-

NI

NI

+

3

c.452G>A, W151X *

Normal

28

49

III

clear cell

moderately

-

-

NI

-

4

c.625+1G>C *

Identical to the tumour

39

53

II

endometrioid

poorly

-

+

+

-

4

c.625+1G>C *

Identical to the tumour

43

72

III

serious

moderately

-

-

+

-

5

c.676C>T, R226X

Normal

  1. $, indicates the first base downstream of the splice donor site of exon 4. Diff.= differentiation; NI, not informative or unable to amplify; -, both alleles retained; +, LOH (loss of heterozygosity). Data as previously published [16]. All mutations are homozygous except when indicated by *. Normal refers to matched DNA from peripheral blood. The location of each mutation in the cDNA sequence is based on numbering from the inititiator codon ATG.
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BMC Genomic Data

ISSN: 2730-6844

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