Patent ID: 9194003
Filing Date: 2015-11-24
Classification: A61P,C12Q

Abstract:
1. A method for determining whether a subject has a predisposition or a susceptibility to develop a cancer selected from a cutaneous malignant melanoma or a renal cancer, the method comprising (1) detecting in a biological sample obtained from said subject a germline mutation in microphthalmia-associated transcription factor (MITF) gene that causes the substitution of the E318 residue with a Lysine residue (the E318K mutation) in the MITF protein, said detecting step comprising contacting said sample with an oligonucleotide whose nucleotide sequence comprises the sequence of SEQ ID NO: 29 or contacting said sample with an oligonucleotide whose nucleotide sequence comprises the sequence of SEQ ID NO: 30 and an oligonucleotide whose nucleotide sequence comprises the sequence of SEQ ID NO: 29 and (2) diagnosing the predisposition or the susceptibility to develop cutaneous malignant melanoma or renal cancer in a subject identified as having the germline E318K mutation.