Table 1 Summary of personal and family history of cancer in MITF E318K germline mutation families
Cases | Phenotype | Family history |
|---|---|---|
M, 44y | Asymptomatic | Skin BCC FDR Ovary 42y FDR |
F, 59y | Breast 57y Cervical 30y | Skin CBC 58y FDR Prostate 59y FDR Colon 75y FDR |
F, 50y | Breast 49y | Colon 54y FDR Prostate 79y FDR |
F, 50y | Breast 57y | Breast 62y SDR |
F, 66y | Colon 62y | Stomach 54y FDR Stomach 62y FDR Stomach 65y FDR Stomach 45y SDR Colon 52y SDR |
F, 60y | Breast 49y | Breast 58y FDR Bilateral Breast 45y FDR Pancreas 75y SDR Prostate 75y SDR Stomach 65y SDR |
F, 65y | Asymptomatic | Prostate 50y FDR Prostate 50y FDR Ovary 52y SDR |
F, 56y | Ovary/tube 52y Melanoma 55y | Esophagus 48y FDR Stomach 67y FDR Bilateral Breast 68y SDR |
F, 36y | Phyllodes Benign 36y | Bilateral Breast 48y FDR Pancreas 55y SDR |
M, 44y | Asymptomatic | Breast 67y FDR Intrahepatic ducts 65y FDR Prostate 68y SDR Prostate 74y SDR Throat 78y SDR |