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Minerva Biotecnologica 2000 March;12(1):25-41

lingua: Inglese

Genetic test­ing of can­cer pre­dis­po­si­tion

Genuardi M., Caluseriu O., Lucci Cordisco E., Rovella V., Neri G.

Università Cattolica del S. Cuore - Roma, Istituto di Genetica Medica, Facoltà di Medicina e Chirurgia “A. Gemelli”


Cancer is a mul­ti­step pro­cess deter­mined by the occur­rence of sequen­tial genet­ic chang­es in ­cells of the somat­ic lin­e­age. A minor­ity of can­cer ­patients ­present ­with a strik­ing ­tumor fam­i­ly his­to­ry, sug­ges­tive of men­de­lian inher­i­tance. It has ­been ­shown ­that spe­cif­ic famil­ial can­cer aggre­ga­tions are due to muta­tions in can­cer-pre­dis­pos­ing ­genes ­which are trans­mit­ted ­through the germ­line. So far, ­more ­than 20 ­genes asso­ciat­ed ­with can­cer pre­dis­po­si­tion ­have ­been iden­ti­fied. Since the ­genes ­involved are ­many, cur­rent­ly ­there is no uni­ver­sal ­test for can­cer pre­dis­po­si­tion. Rather, muta­tion detec­tion strat­e­gies ­need to be tail­ored accord­ing to the ­type of ­gene ­which ­needs to be inves­ti­gat­ed. This is estab­lished ­based on clin­i­cal eval­u­a­tion, on anal­y­sis of clin­i­cal doc­u­men­ta­tion, and on ped­i­gree recon­struc­tion and inter­pre­ta­tion. Therefore, genet­ic coun­sel­ing is a fun­da­men­tal ­step of can­cer genet­ic test­ing. The coun­sel­ing pro­cess ­includes ­also the pro­vi­sion of ade­quate infor­ma­tion on the lim­its of can­cer genet­ic ­tests, on the ­risks asso­ciat­ed ­with muta­tions in spe­cif­ic ­genes, and on the ­options avail­able for pre­ven­tion and ear­ly diag­no­sis. Due to the com­plex­ity of ­these ­issues, sci­en­tif­ic and pro­fes­sion­al organ­iza­tions usu­al­ly rec­om­mend ­that genet­ic ­tests for can­cer pre­dis­po­si­tion be per­formed in insti­tu­tions active­ly involved in ­research in the ­field. To bet­ter han­dle the mul­ti­ple fac­ets of famil­ial can­cer syn­dromes, ad hoc mul­ti­dis­ci­pli­nary ­teams (“can­cer fam­i­ly clin­ics”) ­have ­been estab­lished in a num­ber of coun­tries. While the ­bulk of knowl­edge ­accrued so far con­cerns clear­cut hered­i­tary con­di­tions asso­ciat­ed ­with ­high pen­e­trance, ­there are grow­ing ­data indi­cat­ing ­that ­less pen­e­trant muta­tions, and ­even com­mon poly­mor­phisms, are ­involved in can­cer sus­cep­ti­bil­ity, ­albeit ­with low­er ­risks. Further dis­cov­er­ies in the ­field ­will prob­ably ­lead to an expo­nen­tial ­increase in the num­ber of poten­tial can­di­dates to genet­ic ­tests. However, ­before ­these can be ­applied on a pop­u­la­tion ­scale, ­there is a ­need for improve­ments and stan­dard­iza­tion of man­age­ment and sur­veil­lance strat­e­gies.

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