Table 2.

Genes to Consider in the Differential Diagnosis BAP1 Tumor Predisposition Syndrome

Cancer TypeGene / Genetic
Mechanism		Comments/References
Uveal melanoma BRCA1
BRCA2
MBD4
PALB2 		Sinilnikova et al [1999], Iscovich et al [2002], Scott et al [2002], Moran et al [2012], Abdel-Rahman et al [2020a], Abdel-Rahman et al [2020b]
Malignant mesotheliomaCDKN2A 1 Panou et al [2018]
Cutaneous melanoma CDKN2A
CDK4
MC1R
MITF 		Pancreatic cancer is assoc w/CDKN2A pathogenic variants [Marzuka-Alcalá et al 2014].
Hereditary renal cell carcinoma VHL See Von Hippel-Lindau Syndrome.
Xp11
translocation		Xp11 translocation renal cell carcinoma (OMIM 300854)
FH Hereditary cutaneous leiomyomatosis, renal cell cancer, uterine leiomyomas (fibroids); see FH Tumor Predisposition Syndrome.
FLCN
  • Renal tumors: hybrid oncocytic, chromophobe, oncocytoma, papillary, clear cell renal cell carcinoma
  • Cutaneous: fibrofolliculomas/trichodiscomas
  • Pulmonary: lung cysts, spontaneous pneumothoraces; see Birt-Hogg-Dubé Syndrome.
MET Hereditary papillary renal cell carcinoma (OMIM 605074)

Monogenic disorders included in this table are inherited in an autosomal dominant manner.

1.

Panou et al [2018] describe several additional genes; however, only BAP1 and CDKN2A remain significant if the Bonferroni correction is applied.

From: BAP1 Tumor Predisposition Syndrome

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