2 documents found, page 1 of 1
Hereditary breast cancer and ancestry in the Madeira archipelago: An explorator...
Miguel, I; Rodrigues, F; Fragoso, S; Freixo, J; Clara, A; Luís, A; Bento, S; Fernandes, M; Bacelar, F; Câmara, S; Parreira, J; Duarte, T; Rodrigues, PAccess to genetic testing and counselling in remote areas such as the Madeira archipelago, in the Northern Atlantic Ocean, may be complex. Different counselling methods, including telegenetics, should be explored. In this study, we characterise the Hereditary Breast/Ovarian Cancer (HBOC) families with Madeira ancestry enrolled in our programme. Of a total of 3, 566 index patients tested between January 2000 and...
High-throughput sequencing identifies 3 novel susceptibility genes for heredita...
Campos, C; Fragoso, S; Luís, R; Pinto, F; Brito, C; Esteves, S; Pataco, M; Santos, S; Machado, P; Vicente, JB; Rosa, JC; Cavaco, BM; Moura, C; Pojo, MCutaneous melanoma is one of the most aggressive human cancers due to its high invasiveness. Germline mutations in high-risk melanoma susceptibility genes have been associated with development hereditary melanoma; however, most genetic culprits remain elusive. To unravel novel susceptibility genes for hereditary melanoma, we performed whole exome sequencing (WES) on eight patients with multiple primary melanoma...