Prediction models in Lynch syndrome
نویسندگان
چکیده
منابع مشابه
evaluation in a clinical genetic setting Mutation prediction models in Lynch syndrome
Online First articles must include the digital object identifier (DOIs) and date of initial publication. establish publication priority; they are indexed by PubMed from initial publication. Citations to may be posted when available prior to final publication). Online First articles are citable and accepted for publication but have not yet appeared in the paper journal (edited, typeset versions ...
متن کاملPrediction of Lynch syndrome in consecutive patients with colorectal cancer.
BACKGROUND Lynch syndrome is caused by inherited mutations in DNA mismatch repair genes (primarily MSH2, MLH1, MSH6, and PMS2) and is one of the most prevalent inherited cancer syndromes. Several models have been developed to predict the occurrence of Lynch syndrome in high-risk patients and families, but it is not known how these models compare with one another or how they perform for colorect...
متن کاملPrediction of MLH1 and MSH2 mutations in Lynch syndrome.
CONTEXT Lynch syndrome is caused primarily by mutations in the mismatch repair genes MLH1 and MSH2. OBJECTIVES To analyze MLH1/MSH2 mutation prevalence in a large cohort of patients undergoing genetic testing and to develop a clinical model to predict the likelihood of finding a mutation in at-risk patients. DESIGN, SETTING, AND PARTICIPANTS Personal and family history were obtained for 191...
متن کاملSebaceous neoplasms in Lynch syndrome
Background Sebaceous neoplasms of the skin (SN) are described in the Muir Torre variant of Lynch syndrome (LS). Guidelines recommend evaluating individuals diagnosed with sebaceous adenomas or sebaceous carcinomas for LS with immunohistochemistry (IHC) for mismatch repair (MMR) proteins and/or microsatellite instability analysis (MSI). The assumption has been that SNs with defective MMR are rel...
متن کاملDiagnosing Lynch syndrome
R isk stratification is essential for designing efficacious and cost effective colon cancer screening programmes. One of the most important risk factors for colorectal cancers (CRC) is an inherited predisposition, implicated in 20% of all cases. The spectrum of genetic susceptibility ranges from the low penetrance mutations that modestly increase the colon cancer risk (for example, I 1307K) to ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Familial Cancer
سال: 2013
ISSN: 1389-9600,1573-7292
DOI: 10.1007/s10689-013-9632-0