Table 3 |
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|
Germline LGRs identified in Slovakian HNPCC families. |
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|
Family code |
HNPCC criteria |
Tumor localization (age at diagnosis) |
Gene |
Deleted or duplicated exons (systematic nomenclature) |
5' deletion |
MSI |
IHC |
LOH |
|
|
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|
SK-14 |
AC-I |
ascendens + sigmoid colon (27) |
MSH2 |
del1-7 (c.1-?_1276+?del) |
15 kb |
MSI-H |
* |
partial |
|
SK-20 |
AC-II |
sigmoid colon (36) |
MSH2 |
dup5-6 (c.793-?_1076+?dup) |
n.a. |
MSI-H |
MLH1+, MSH2- |
partial |
|
SK-21 |
BG |
cecum (27) |
MSH2 |
del1-3 (c.1-?_645+?del) |
15 kb and 27 kb |
MSI-H |
MLH1+, MSH2- |
none |
|
SK-22 |
AC-I |
sigmoid colon (36) |
MLH1 |
del5-6 (c.381-?_545+?del) |
n.a. |
MSI-H |
MLH1-, MSH2+ |
partial |
|
SK-23 |
AC-I |
cecum + ascendens colon (53) |
MSH2 |
del1 (c.1-?_211+?del) |
- |
MSI-L |
* |
none |
|
SK-25 |
AC-I |
cecum (42) |
MSH2 |
del1-7 (c.1-?_1276+?del) |
15 kb |
# |
# |
|
|
SK-28 |
BG |
ascendens colon + rectum (48) |
MSH2 |
del1-3 (c.1-?_645+?del) |
n.d. |
MSI-H |
* |
n.i. |
|
|
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|
Fulfillment of HNPCC criteria: AC-I, AC-II, Amsterdam criteria I, II; BG, Bethesda guidelines. Systematic nomenclature: According to the recommendations of the Human Genome Variant Society using reference sequences NM_000249.2 (MLH1) and NM_000251.1 (MSH2). 5' deletion: the probes detecting regions located 15 or 27 kb before MSH2 localized in the TACSTD1 gene; n.a., not applicable; - no reduction of the signal at any of the TACSTD1 probes, n.d., not determined; MSI, microsatellite instability analysis: MSI-H, high level of MSI; MSI-L, low level of MSI; IHC, immunohistochemical analysis, +, a positive staining, -, a negative staining, * staining failed due to fixation problem; #, no FFPE tissue available for analysis; LOH, loss of heterozygosity, n.i. not informative in any LOH marker |
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|
Zavodna et al. BMC Cancer 2009 9:405 doi:10.1186/1471-2407-9-405 |
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