Association of the I1307K APC mutation with hereditary and sporadic breast/ovarian cancer: more questions than answers

The frequency of the APC I1307K mutation and its association with disease pattern was examined in 996 Ashkenazi women consisting of individuals with either sporadic (n = 382) or hereditary (n = 143) breast and/or ovarian cancer; asymptomatic BRCA1/2 mutation carriers (185delAG, 5382insC and 6174delT...

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Detalles Bibliográficos
Autores principales: Gershoni-Baruch, R, Patael, Y, Dagan, Figer, A, Kasinetz, L, Kadouri, E, Sade, R Bruchim Bar, Friedman, E
Formato: Texto
Lenguaje:English
Publicado: Nature Publishing Group 2000
Materias:
Regular Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2363478/
https://www.ncbi.nlm.nih.gov/pubmed/10901363
http://dx.doi.org/10.1054/bjoc.2000.1248
Descripción
Sumario:The frequency of the APC I1307K mutation and its association with disease pattern was examined in 996 Ashkenazi women consisting of individuals with either sporadic (n = 382) or hereditary (n = 143) breast and/or ovarian cancer; asymptomatic BRCA1/2 mutation carriers (185delAG, 5382insC and 6174delT) (n = 53) and healthy controls (n = 418). The I1307K allele was equally distributed among women with sporadic (17/382; 4.6%) and inherited (10/143; 7%) breast and/or ovarian cancer irrespective of their being diagnosed before or after 42 years of age and among asymptomatic (7/53; 13.2%) and cancer manifesting BRCA1/2 carriers (10/143; 7%). Taken together, the prevalence of the I1307K allele was significantly higher in BRCA1/2 carriers compared to non-BRCA1/2 carriers (17/196; 8.7% and 40/800, 5%; respectively). The high prevalence of the I1307K allele among BRCA1/2 carriers is not associated with increased cancer risk but seems to be genetically connected because of Jewish ancestry. © 2000 Cancer Research Campaign

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