Germline Mutations

Authors and Affiliations:

Cabreira V^1,2, Pinto C¹, Pinheiro M¹, Lopes P³, Peixoto A¹, Santos C¹, Veiga I^1, Rocha P¹, Pinto P¹, Henrique R^3,4, Teixeira MR^5,6

¹ Departamento de Genética, Instituto Português de Oncologia do Porto (IPO Porto), Rua Dr. António Bernardino de Almeida, 4200-072, Porto, Portugal.

² Faculdade de Medicina da Universidade do Porto, Porto, Portugal.

Hereditary prostate cancer is estimated to account for 5-10% of all prostate cancer cases, but the identification of highly penetrant genes has been difficult. HOXB13 was recently identified as a susceptibility gene for prostate cancer (PrCa) when the rare, but recurrent, germline mutation [G84E, p.(Gly84Glu)] was found in men of European descent, conferring an increased PrCa risk of 4.51-fold.

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