Absence of PMS2 mutations in colon-CFR participants whose colorectal cancers demonstrate unexplained loss of MLH1 expression

Clendenning, M., Macrae, F. A., Walsh, M. D., Walters, R. J., Thibodeau, S. N., Gunawardena, S. R., Potter, J. D., Haile, R. W., Gallinger, S., Hopper, J. L., Jenkins, M. A., Rosty, C., Young, J. P., Buchanan, D. D. and Colorectal Cancer Family Registry (2013) Absence of PMS2 mutations in colon-CFR participants whose colorectal cancers demonstrate unexplained loss of MLH1 expression. Clinical Genetics, 83 6: 591-593. doi:10.1111/cge.12011

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Author Clendenning, M.
Macrae, F. A.
Walsh, M. D.
Walters, R. J.
Thibodeau, S. N.
Gunawardena, S. R.
Potter, J. D.
Haile, R. W.
Gallinger, S.
Hopper, J. L.
Jenkins, M. A.
Rosty, C.
Young, J. P.
Buchanan, D. D.
Colorectal Cancer Family Registry
Title Absence of PMS2 mutations in colon-CFR participants whose colorectal cancers demonstrate unexplained loss of MLH1 expression
Formatted title
Absence of PMS2 mutations in colon-CFR participants whose colorectal cancers demonstrate unexplained loss of MLH1 expression
Journal name Clinical Genetics   Check publisher's open access policy
ISSN 0009-9163
1399-0004
Publication date 2013-06-01
Year available 2012
Sub-type Letter to editor, brief commentary or brief communication
DOI 10.1111/cge.12011
Open Access Status DOI
Volume 83
Issue 6
Start page 591
End page 593
Total pages 3
Place of publication United States
Publisher Wiley-Blackwell Publishing
Language eng
Subject 1311 Genetics
2716 Genetics (clinical)
Formatted abstract
To the Editor: Lynch syndrome (LS) (MIM#120435) is a cancer predisposition condition resulting from mutations within the DNA mismatch repair (MMR) genes (MLH1, MSH2, MSH6 or PMS2). In a suspected LS family, tumors are assessed for microsatellite instability (MSI) and/or immunohistochemical (IHC) absence of MMR proteins, both of which are hallmarks of LS. To enable appropriate diagnosis, counseling and surveillance, the gene indicated by the IHC profile is screened for mutations via techniques such as denaturing high pressure liquid chromatography (DHPLC), sequencing and multiplex ligation-dependent probe amplification (MLPA). Using these approaches, mutations are identified in the majority of cases suspected of LS; however, there remains a substantial proportion of families for which mutations cannot be identified...
Keyword Lynch-syndrome
Q-Index Code CX
Q-Index Status Confirmed Code
Grant ID U01 CA074799
Institutional Status UQ
Additional Notes Article first published online: 27 SEP 2012

Document type: Journal Article
Sub-type: Letter to editor, brief commentary or brief communication
Collections: Non HERDC
School of Medicine Publications
 
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