Loss of MSH6 and PMS2 immunohistochemical staining in tumour tissue of two individuals with a germline PMS2 mutation
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چکیده
منابع مشابه
Loss of MSH6 and PMS2 immunohistochemical staining in tumour tissue of two individuals with a germline PMS2 mutation
Lynch syndrome is an autosomal dominant cancer predisposition syndrome which is caused by a germline mutation in one of four genes, MLH1, MSH2, MSH6 or PMS2. Individuals with a germline mutation in one of these genes are at increased lifetime risk of colon, endometrial, ovarian, small intestine, renal pelvis and ureter. Less commonly patients may develop biliary tract cancers, gastric and pancr...
متن کاملGermline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort.
OBJECTIVES Immunohistochemistry for DNA mismatch repair proteins is used to screen for Lynch syndrome in individuals with colorectal carcinoma (CRC). Although solitary loss of PMS2 expression is indicative of carrying a germline mutation in PMS2, previous studies reported MLH1 mutation in some cases. We determined the prevalence of MLH1 germline mutations in a large cohort of individuals with a...
متن کاملGermline PMS2 mutation screened by mismatch repair protein immunohistochemistry of colorectal cancer in Japan
Germline PMS2 gene mutations were detected by RT-PCR/direct sequencing of total RNA extracted from puromycin-treated peripheral blood lymphocytes (PBL) and multiplex ligation-dependent probe amplification (MLPA) analyses of Japanese patients with colorectal cancer (CRC) fulfilling either the revised Bethesda Guidelines or being an age at disease onset of younger than 70 years, and screened by m...
متن کاملLate presentation of cancer in compound heterozygote PMS2 mutation carrier
Background Turcot syndrome is clinically characterized by the occurrence of primary brain tumors, colorectal cancer and/or accompanying adenomas. It has been described as both an autosomal dominant and recessive condition and mutations in APC, MLH1, MSH2, MSH6 and PMS2 have been reported. Constitutional Mismatch repair (CMMR) deficiency is a variant of Lynch syndrome (LS) associated with bialle...
متن کاملMismatch Repair Proteins and Microsatellite Instability in Colorectal Carcinoma (MLH1, MSH2, MSH6 and PMS2): Histopathological and Immunohistochemical Study
BACKGROUND Colorectal cancer (CRC) is one of the most common cancers worldwide. Microsatellite instability (MSI) is detected in about 15% of all colorectal cancers. CRC with MSI has particular characteristics such as improved survival rates and better prognosis. They also have a distinct sensitivity to the action of chemotherapy. AIM The aim of the study was to detect microsatellite instabili...
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ژورنال
عنوان ژورنال: Hereditary Cancer in Clinical Practice
سال: 2012
ISSN: 1897-4287
DOI: 10.1186/1897-4287-10-s2-a76