We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Prediction of MLH1 and MSH2 Mutations in Lynch Syndrome.
- Authors
Balmaña, Judith; Stockwell, David H.; Steyerberg, Ewout W.; Stoffel, Elena M.; Deffensbaugh, Amie M.; Reid, Julia E.; Ward, Brian; Scholl, Thomas; Hendrickson, Brant; Tazelaar, John; Burbidge, Lynee Anne; Syngal, Sapna
- Abstract
The article presents a medical study examining the prevalence of MLH1 and MSH2 genetic mutations, which are the main cause of Lynch syndrome. The study also sought to create a clinical model that could predict the occurrence of such mutations in at-risk patients. According to the study, characteristics found in personal and family history can predict the outcome of genetic testing in individuals who are at risk of developing Lynch syndrome. Colorectal or endometrial cancer were strong predictors of the mutations. The article discusses the Prediction of Mutations in MLH1 and MSH2 model. INSET: Equation for PREMM (Prediction of Mutations in MLH1 and MSH2)....
- Subjects
GENETIC mutation; MEDICAL research; HUMAN chromosome abnormality diagnosis; DISEASE risk factors; GENETICS of colon cancer; ENDOMETRIAL cancer; GENEALOGY; GENETICS
- Publication
JAMA: Journal of the American Medical Association, 2006, Vol 296, Issue 12, p1469
- ISSN
0098-7484
- Publication type
Article