Table 1.

Genetic Tumor Syndromes, associated mutations, and inheritance patterns. AD = Autosomal Dominant, AR = Autosomal Recessive.

Syndrome	Mutations	Inheritance
Naevoid basal cell carcinoma syndrome/Gorlin Syndrome	Gene PTCH1 on chromosome 9q22-31	AD
Neurofibromatosis 1	Neurofibromatosis gene 1, on chromosome 17q11.2	AD
Neurofibromatosis 2	Gene NF2 on chromosome 22q11.2	AD
Familial adenomatous polyposis and Gardner syndrome	Adenomatous polyposis coli (APC) gene on chromosome 5q21	AD
Cowden syndrome	Chromosome 10q23, the phosphate and tensin homolog (PTEN) gene	AD
Brooke-Spiegler Syndrome	CYLD gene on chromosome 16q12.1	AD
Familial paraganglioma syndrome	Mutations in succinate dehydrogenase (SDH)	AD
Multiple endocrine neoplasia type 2	RET proto-oncogene located on chromosome 10q11.2	AD
Li-Fraumeni syndrome	Chromosome 17p13.1, in the tumor suppressor gene 53 (TP53)	AD
Fanconi Anaemia	22 genes are identified: Fanconi anemia complementation group A (FANC-A), FANC-C, and FANC-G	AR, X-linked, AD
Dyskeratosis congenita	14 genes have been identified to be associated with DC, including DKC1, TERC, TERT, and TINF2	X-linked, AD, AR
Ataxia telangiectasia	ATM gene located on chromosome 11q22-23	AR
Bloom syndrome	BLM gene on chromosome 15q26	AR
Von Hippel–Lindau syndrome	VHL gene on chromosome 3p25.5	AD
Tuberous sclerosis	Gene TSC1 on chromosome 9q32 or gene TSC2 on chromosome 16p13.3	AD