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A Journal on Biotechnology and Molecular Biology

Indexed/Abstracted in: EMBASE, Science Citation Index Expanded (SciSearch), Scopus
Impact Factor 0,246

Frequency: Quarterly

ISSN 1120-4826

Online ISSN 1827-160X


Minerva Biotecnologica 1999 March;11(1):7-16


Genetic pre­dis­po­si­tion to ­breast and ovar­ian can­cer. An ­update on the ­BRCA1 and ­BRCA2 ­genes

Santarosa M., Viel A., Boiocchi M.

Division of Experimantal Oncology 1, Centro di Riferimento Oncologico, Aviano, Italy

Approximately 5-10% of all ­breast and ovar­ian can­cers are diag­nosed in ­patients ­that ­present oth­er ­breast and/or ovar­ian can­cer cas­es in ­their fam­i­ly, sug­gest­ing an inher­it­able pre­dis­po­si­tion to can­cer. The major­ity of ­these inher­it­able ­forms of ­breast and ovar­ian can­cers are due to alter­a­tions of the two ­tumor sup­pres­sor ­genes recent­ly ­cloned, ­BRCA1 and ­BRCA2. ­BRCA1, local­ized to chro­mo­some 17q21 by genet­ic link­age of ear­ly ­onset ­breast can­cer fam­i­lies, was ­cloned in 1994, and ­BRCA2, map­ping to 13q12-13, was iden­ti­fied in 1995. Although the sup­pres­sive ­effect of ­BRCA1 and ­BRCA2 ­genes is ­still far to be com­plete­ly under­stood, ­much ­progress has ­been ­made to elu­ci­date ­their pos­sible bio­log­i­cal ­roles, and ­many ­efforts ­have ­been ­made to esti­mate the inci­dence and pen­e­trance of ­their muta­tions. In the ­present ­review, the struc­tu­ral com­plex­ity of ­these ­genes and ­their bio­log­i­cal prop­er­ties ­will be dis­cussed, by report­ing ­data ­from the stud­ies on the con­served ­motifs ­among spe­cies and on the inter­act­ing pro­teins. In par­tic­u­lar, the muta­tion­al screen­ing strat­e­gies in use in our labor­a­to­ry as ­well as ­those ­used by oth­er inves­ti­ga­tors ­will be ­described.

language: English


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