title: Lynch syndrome diagnostics: decision-making process for germ-line testing.
abstract: Cancer 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.
authors.affiliation: Unidad de Consejo Genético Este Castilla y León, Sección de Oncología Médica, Complejo Asistencial Universitario de Burgos, Hospital General Yagüe, Burgos, Spain. elastra@hgy.es
authors.forename: E
authors.initials: E
authors.lastname: Lastra
authors.forename: M
authors.initials: M
authors.lastname: García-González
authors.forename: B
authors.initials: B
authors.lastname: Llorente
authors.forename: C
authors.initials: C
authors.lastname: Bernuy
authors.forename: M J
authors.initials: MJ
authors.lastname: Barrio
authors.forename: L
authors.initials: L
authors.lastname: Pérez-Cabornero
authors.forename: M
authors.initials: M
authors.lastname: Durán
authors.forename: C
authors.initials: C
authors.lastname: García-Girón
mesh_terms: D000328:Adult; D016000:Cluster Analysis; D015179:Colorectal Neoplasms / Q000175:diagnosis / Q000235:genetics; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis*; D004252:DNA Mutational Analysis; D003657:Decision Making; D005192:Family Health; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D053842:Microsatellite Instability; D008875:Middle Aged; D015203:Reproducibility of Results; D012306:Risk