Impact of mismatch repair (MMR) genetic test result on perceived cancer risk and cancer screening
نویسندگان
چکیده
Methods Individuals who underwent clinical genetic testing for Lynch syndrome at Dana Farber Cancer Institute were enrolled in a longitudinal questionnaire study eliciting information on perceived cancer risk, cancer worry, cancer screening and health behaviors prior to testing and after a clinical visit at which genetic test results were disclosed. Level of genetic test specific distress was assessed using the Multidimensional Impact of Cancer Risk Assessment Questionnaire (MICRA), and comparisons between groups were made using Kruskal Wallace non parametric analyses.
منابع مشابه
Diagnostic Application of hMLH1 Methylation in Hereditary Non-Polyposis Colorectal Cancer
Colorectal cancer (CRC) due to mismatch repair (MMR) defect has distinct characteristics among unselected CRCs. These CRCs are biologically less aggressive and, thus, showing better prognosis but less sensitive to the 5FU-based chemotherapy. CRCs with MMR defect derive from both hereditary and sporadic reasons. Germline inactivation of MMR genes (hMLH1, hMSH2, hMSH6, and hPMS2) underlies the he...
متن کاملClinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome)
Carriers of a germline mutation in one of the DNA mismatch repair (MMR) genes have a high risk of developing numerous different cancers, predominantly colorectal cancer and endometrial cancer (known as Lynch syndrome). MMR gene mutation carriers develop tumors with MMR deficiency identified by tumor microsatellite instability or immunohistochemical loss of MMR protein expression. Tumor MMR defi...
متن کاملسه موتاسیون ژرم لاین جدید در ژن MLH1 در بیماران مبتلا به سرطان کولورکتال ارثی
Abstract Background: Hereditary non-polyposis colorectal cancer is the most common cause of early onset of hereditary colorectal cancer. In the majority of Hereditary non-polyposis colorectal cancer families, microsatellite instability and germline mutation in one of the DNA mismatch repair genes in clouding MSH2, MLH1, MSH6 and PMS2 are found. The Objective of this study was to determine th...
متن کاملMismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome.
Founder mutations in specific populations are common in several Mendelian disorders. They are shared by apparently unrelated families that inherited them from a common ancestor that existed hundreds to thousands of years ago. They have been proven to impact in molecular diagnostics strategies in specific populations, where they can be assessed as the first screening step and, if positive, avoid...
متن کاملDNA mismatch repair, microsatellite instability and cancer.
Mismatch (MMR) repair system plays a significant role in restoration of stability in the genome. Mutations in mismatch repair genes hamper their activity thus bring about a defect in mismatch repair (MMR) mechanism thereby conferring instability in the microsatellite sequences of both the coding and non-coding regions of the genome. Mutated mismatch repair genes result in the expansion or contr...
متن کامل