[Clinical and molecular diagnosis of XXXX ].

@entity1 @entity43 @entity0 @entity5344 @entity5 @entity5345 @entity2674
OBJECTIVE: The aim of this work was to pinpoint @entity5344 risk. Clinical @entity5 genetics include: diagnostic @entity5 genetics, @entity5 genetic counseling and management of @entity1 at high risk of developing @entity5344 . MATERIAL AND METHODS: An update of documented data was performed in order to assess our current knowledge about @entity5344 . RESULTS: Most @entity0 ( @entity0 ) are sporadic while 5-10% are estimated to be due to an inherited predisposition. Rare autosomal dominant alteration in two genes, @entity5345 and @entity2674 , which confer a high risk of developing @entity43 (OC), are likely to account for most families with multiple cases of early-onset @entity0 and OC, but only 3-4% of all @entity0 . The estimations of their prevalence and penetrance vary greatly, depending on the population studied, the study design, statistical methods and the sensitivity of technical methods for detection of mutations. Penetrance can be very high, but incomplete (maximum 80%). Penetrance and age at onset of the same mutation show great variability within and between @entity0 families. This could be due to the effects of other genetic as well as non-genetic factors that are being studied. The heterogeneity of families makes the identification of other high-risk genes difficult. Additive effects of several susceptibility genes could explain much more @entity0 in the general population (polygenic models). Molecular diagnoses have become feasible. Specific consultations in oncogenetics help clinicians and @entity1 understand hereditary components, establish molecular diagnoses, provide guidelines for a better surveillance of @entity1 at high risk of developing @entity0 , OC or both and reassure the mutation non-carriers. The strategies of management and treatment of @entity0 and OC in mutation carriers remain under discussion and it is is difficult to choose preventive options. CONCLUSION: Inherited @entity0 or OC due to a mutation in @entity5345 or @entity2674 are rare in the general population. However, @entity1 and @entity1 have the right to be informed of the possibilities concerning presymptomatic testing, risk assessment, surveillance, prevention and psychological support with respect to the potential benefits and limitations. Other large prospective studies are needed to validate rapidly the methods of surveillance and prevention in this group at "high risk" in order to adapt them to very large populations. However, predictive medicine should be used with care.
