Table 6.
The geographic provenience of the samples previously detected with the mutation L1053X
| 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) | - | 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 | - | Hondow HL, et al. 2011 [53] | 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 | Sandhu SK, et al. 2013 [39] | Fong PC, et al. 2009 [55] |
| 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] |
*1Cancer centres where the sampling protocols including family pedigree were performed
*2based on large population studies: the population-based SEARCH study UK and the hospital-based Mayo clinic study from USA
*3The centers where the study was performed: at the Royal Marsden National Health Service (NHS) Foundation Trust (United Kingdom) and the Netherlands Cancer Institute (the Netherlands)