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Lynch syndrome diagnostics: decision-making process for germ-line testing

AuthorsLastra, Enrique; García-González, María; Llorente, Beatriz; Bernuy, Coralina; Barrio, M. Jesús; Pérez-Cabornero, Lucía ; Durán, Mercedes ; García-Girón, Carlos
KeywordsLynch syndrome
Molecular diagnostics
Decision-making process
Germ-line testing
Issue Date2012
CitationClinical and Translational Oncology 14(4): 254-262 (2012)
AbstractCancer risks and medical management of Lynch syndrome (LS) differ from other hereditary or familial clustering of colorectal cancer. Differential diagnosis has improved as a result of the growing clinical and molecular knowledge about LS. Appropriate application of these advances in several scenarios constitutes a decision-making process to further decide germ-line testing with accuracy and efficiency. However, an only molecular-screening algorithm, with a limited number of steps and choices, may be difficult to devise. How, when, where and at what expense to use the different diagnostic tools remain dynamic and changeable under different circumstances. From a clinical point of view, it is advisable to discuss conflicting aspects to guide LS diagnosis.
Identifiersdoi: 10.1007/s12094-012-0793-3
issn: 1699-048X
e-issn: 1699-3055
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