SAMPLE geographic provenience | L1053X mutation frequency | Type | Cases | Age | The study highlighted the mutation | Sample source |
---|---|---|---|---|---|---|
Canada, USA and Poland*1 | 1 family (not specified) | Germline | Familial BC | - | Lubinski, et al. 2004 [18] | Research centers |
UK, USA*2 | 1 control subject (not specified) | Â | - | 54 | Song H, et al. 2014 [40] | Gayther SA, et al. 2007 [54] |
Australia | 1 case; as HRM High Resolution Melting Method validation | Method validation | Not specified | - | Peter MacCallum Cancer Centre and the Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer (kConFab) | |
UK, Netherlands*3 | 1 case | Germline | Prostate ca | 54.6 | ||
UK | 1 case | Germline | Prostate ca with family history of BC and Lung ca | 46 | Kote-Jarai Z, et al. 2011 [38] | Eeles RA, et al.1997 [56] |