The added value of PMS2 immunostaining in the diagnosis of hereditary nonpolyposis colorectal cancer.

↓ Direkt till sidans innehåll
↓ Direkt till sidans sekundära innehåll (sidomenyn)

Sökning: WFRF:(Lagerstedt Kristina) > The added value of ...

Halvarsson, BrittaLund University,Lunds universitet,Tumörmikromiljö,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Tumor microenvironment,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine (författare)

The added value of PMS2 immunostaining in the diagnosis of hereditary nonpolyposis colorectal cancer.

Artikel/kapitelEngelska2006

Förlag, utgivningsår, omfång ...

2006-07-12
Springer Science and Business Media LLC,2006
electronicrdacarrier

Nummerbeteckningar

LIBRIS-ID:oai:lup.lub.lu.se:faedb8ca-9ebc-4e44-8a84-9a86fdf1d266
https://lup.lub.lu.se/record/159242URI
https://doi.org/10.1007/s10689-006-0005-9DOI
http://kipublications.ki.se/Default.aspx?queryparsed=id:1947598URI

Kompletterande språkuppgifter

Språk:engelska
Sammanfattning på:engelska

Ingår i deldatabas

SwePubSwePub

Klassifikation

Ämneskategori:art swepub-publicationtype
Ämneskategori:ref swepub-contenttype

Anmärkningar

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.

Ämnesord och genrebeteckningar

MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Cancer och onkologi hsv//swe
MEDICAL AND HEALTH SCIENCES Clinical Medicine Cancer and Oncology hsv//eng
PMS2
HNPCC
immunostaining
hereditary nonpolyposis colorectal cancer

Biuppslag (personer, institutioner, konferenser, titlar ...)

Lindblom, AnnikaKarolinska Institutet (författare)
Rambech, EvaLund 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 Medicine(Swepub:lu)onk-era (författare)
Lagerstedt, KristinaKarolinska Institutet (författare)
Nilbert, MefLund 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 Medicine(Swepub:lu)onk-mni (författare)
TumörmikromiljöSektion I (creator_code:org_t)

Sammanhörande titlar

Ingår i:Familial Cancer: Springer Science and Business Media LLC5:4, s. 353-3581389-96001573-7292

Internetlänk

Hitta via bibliotek

Familial Cancer (Sök värdpublikationen i LIBRIS)

Till lärosätets databas

Hitta mer i SwePub

Av författaren/redakt...: Halvarsson, Brit ...; Lindblom, Annika; Rambech, Eva; Lagerstedt, Kris ...; Nilbert, Mef

Om ämnet

MEDICIN OCH HÄLSOVETENSKAP: MEDICIN OCH HÄLS ...; och Klinisk medicin; och Cancer och onkol ...

Artiklar i publikationen: Familial Cancer

Av lärosätet: Lunds universitet; Karolinska Institutet

Sök utanför SwePub

Sök vidare i:: Google; Google Book Search; Google Scholar

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

LIBRIS.kb.se