Klinische FragestellungFAMMM-Syndrom, Differentialdiagnose

NGS +

[Sanger]

illness_ClinicalComment_FP0010

• Alias: BAP1 cancer syndrome (BAP1)
• Alias: BAP1 tumor predisposition syndrome (BAP1)
• Alias: FAMM-PC syndrome
• Alias: Familial atypical mole-malignant melanoma syndrome (FAMMM)
• Alias: Familial atypical multiple mole melanoma syndrome
• Alias: Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome
• Alias: Familial dysplastic naevus syndrome
• Allelic: Adrenocortical carcinoma, pediatric (TP53)
• Allelic: Analgesia from kappa-opioid receptor agonist, female-specific (MC1R)
• Allelic: Bone marrow failure syndrome 5 (TP53)
• Allelic: Breast cancer, male, susceptibility to (BRCA2)
• Allelic: Breast cancer, somatic (TP53)
• Allelic: Breast cancer, susceptibility to (XRCC3)
• Allelic: Breast-ovarian cancer, familial, 2 (BRCA2)
• Allelic: COMMAD syndrome (MITF)
• Allelic: Colorectal cancer (TP53)
• Allelic: Cowden syndrome 1 (PTEN)
• Allelic: Dyskeratosis congenita, AD 2 (TERT)
• Allelic: Fanconi anemia, complementation group D1 (BRCA2)
• Allelic: Glioblastoma 3 (BRCA2)
• Allelic: Glioma susceptibility 1 (TP53)
• Allelic: Glioma susceptibility 2 (PTEN)
• Allelic: Glioma susceptibility 9 (POT1)
• Allelic: Leukemia, acute myeloid (TERT)
• Allelic: Lhermitte-Duclos syndrome (PTEN)
• Allelic: Macrocephaly/autism syndrome (PTEN)
• Allelic: Medulloblastoma (BRCA2)
• Allelic: Meningioma (PTEN)
• Allelic: Osteosarcoma (TP53)
• Allelic: Pancreatic cancer 2 (BRCA2)
• Allelic: Pancreatic cancer, somatic (TP53)
• Allelic: Prostate cancer (BRCA2)
• Allelic: Prostate cancer, somatic (PTEN)
• Allelic: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 (TERT)
• Allelic: Skin/hair/eye pigmentation 2, blond hair/fair skin (MC1R)
• Allelic: Skin/hair/eye pigmentation 2, red hair/fair skin (MC1R)
• Allelic: Tietz albinism-deafness syndrome (MITF)
• Allelic: Waardenburg syndrome, type 2A (MITF)
• Allelic: Waardenburg syndrome/ocular albinism, digenic (MITF)
• Allelic: Wilms tumor (BRCA2)
• Atypical melanocytic proliferations + other internal neoplasms, COMMON syndrome (BAP1)
• Basal cell carcinoma 7 (TP53)
• Choroid plexus papilloma (TP53)
• Cutaneous/ocular melanoma (BAP1)
• Dyskeratosis congenita, AD 6 (ACD)
• Dyskeratosis congenita, AR 4 (TERT)
• Dyskeratosis congenita, AR 7 (ACD)
• Li-Fraumeni syndrome (TP53)
• Melanoma + neural system tumor syndrome (CDKN2A)
• Melanoma, cutaneous malignant, 2 (CDKN2A)
• Melanoma, cutaneous malignant, 3 (CDK4)
• Melanoma, cutaneous malignant, 5 (MC1R)
• Melanoma, cutaneous malignant, 6 (XRCC3)
• Melanoma, cutaneous malignant, 9 (TERT)
• Melanoma, cutaneous malignant, susceptibility to, 10 (POT1)
• Melanoma, cutaneous malignant, susceptibility to, 8 (MITF)
• Melanoma, familial (TERF2IP)
• Melanoma-pancreatic cancer syndrome (CDKN2A)
• UV-induced skin damage (MC1R)