WFRF:(Lagerstedt Kristina)
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 04650naa a2200469 4500 | |
| 001 | oai:lup.lub.lu.se:faedb8ca-9ebc-4e44-8a84-9a86fdf1d266 | |
| 003 | SwePub | |
| 008 | 160401s2006 | |||||||||||000 ||eng| | |
| 009 | oai:prod.swepub.kib.ki.se:1947598 | |
| 024 | 7 | a https://lup.lub.lu.se/record/1592422 URI |
| 024 | 7 | a https://doi.org/10.1007/s10689-006-0005-92 DOI |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:19475982 URI |
| 040 | a (SwePub)lud (SwePub)ki | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a art2 swepub-publicationtype |
| 072 | 7 | a ref2 swepub-contenttype |
| 100 | 1 | a Halvarsson, Brittau Lund University,Lunds universitet,Tumörmikromiljö,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Tumor microenvironment,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)pat-bha |
| 245 | 1 0 | a The added value of PMS2 immunostaining in the diagnosis of hereditary nonpolyposis colorectal cancer. |
| 264 | c 2006-07-12 | |
| 264 | 1 | b Springer Science and Business Media LLC,c 2006 |
| 338 | a electronic2 rdacarrier | |
| 520 | a dentification and characterization of the genetic background in patients with the hereditary nonpolyposis colorectal cancer (HNPCC) syndrome is important since control programmes can in a cost-effective manner prevent cancer development in high-risk individuals. HNPCC is caused by germline mismatch repair (MMR) gene mutations and the genetic analysis of HNPCC therefore includes assessment of microsatellite instability (MSI) and immunohistochemical MMR protein expression in the tumor tissue. MSI is found in >95% of the HNPCC-associated tumors and immunostaining using antibodies against the MMR proteins MLH1, MSH2, and MSH6 has been found to correctly pinpoint the affected gene in about 90% of the cases. The PMS2 antibody was the most recently developed and we have in a clinical material assessed the added value of PMS2 immunostaining in 213 patients with suspected hereditary colorectal cancer. All 119 MSS tumors showed retained expression for all four antibodies and PMS2 did thus not identify any underlying MMR defect in these cases. However, PMS2 immunostaining contributed to the characterization of the MMR defect in a subset of the MSI tumors. Concomitant loss of MLH1 and PMS2, which functionally interact in the MutL alpha complex, was found in 98% of the tumors from patients with germline MLH1 mutations. Among the 12 MSI-high tumors with retained expression of MLH1, MSH2 and MSH6, 8 tumors showed loss of PMS2 staining, and mutations in MLH1 were identified in 2 and mutations in PMS2 in 3 of these individuals. In summary, isolated loss of PMS2 was found in 8% of the MSI-high tumors in our series, including 8/12 previously unexplained MSI-high tumors, in which mutations either in MLH1 or in PMS2 were identified in five cases. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng |
| 653 | a PMS2 | |
| 653 | a HNPCC | |
| 653 | a immunostaining | |
| 653 | a hereditary nonpolyposis colorectal cancer | |
| 700 | 1 | a Lindblom, Annikau Karolinska Institutet4 aut |
| 700 | 1 | a Rambech, Evau Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)onk-era |
| 700 | 1 | a Lagerstedt, Kristinau Karolinska Institutet4 aut |
| 700 | 1 | a Nilbert, Mefu Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)onk-mni |
| 710 | 2 | a Tumörmikromiljöb Sektion I4 org |
| 773 | 0 | t Familial Cancerd : Springer Science and Business Media LLCg 5:4, s. 353-358q 5:4<353-358x 1389-9600x 1573-7292 |
| 856 | 4 | u https://portal.research.lu.se/files/2850038/625527.pdfx primaryx freey FULLTEXT |
| 856 | 4 | u http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=16817031&dopt=Abstracty FULLTEXT |
| 856 | 4 | u http://dx.doi.org/10.1007/s10689-006-0005-9y FULLTEXT |
| 856 | 4 | u https://lup.lub.lu.se/search/files/2850038/625527.pdf |
| 856 | 4 8 | u https://lup.lub.lu.se/record/159242 |
| 856 | 4 8 | u https://doi.org/10.1007/s10689-006-0005-9 |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:1947598 |
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