Genetic tumor syndromes involving head and neck

2025-04-07   Paola Dal Cin, PhD 

1.Brigham and Women's Hospital , Harvard Medical School, Boston , MA (USA)

Keywords
Hereditary genetic disorders, familiar predisposition, affected families, genetic counseling

Classification

Definition

Hereditary factors can contribute to the development of tumors of tumors involving the head and neck. A significant number of patients with inherited tumors manifest disease that appears to be sporadic disease even in some syndromic cases. Virtually all these disorders have now been characterized at the molecular level.  Constitutional pathogenetic variants can now be routinely screened by next generation sequencing (NGS) to identify at-risk individuals in affected families, and offer genetic counseling, choice of therapy and surveillance guideline.  There is a wide range of hereditary genetic disorders that are associated with familiar predisposition to a variety of head and neck tumors neoplasms. 1

Genetic tumor syndromes involving head and neckOMIM
Naevoid basal cell carcinoma (Gorlin) syndromeOMIM:109400
Neurofibromatosis type 1OMIM:162200
Familal Adenomatous Polyposis with Gardner syndrome variant OMIM:175100
Brooke-Spiegler syndromeOMIM:605041
Cowden syndromes 1,4,5,6,7OMIM:158350,OMIM:615107,OMIM:615108,OMIM:615109, OMIM:616858
Familial paraganglioma syndromes
Succinate dehydrogenase (SDH)-deficient,PPGL1,2,3,4,5OMIM:168000,OMIM:601650, OMIM:605373 OMIM:115310, OMIM:614165
Multiple endocrine neoplasia 2BOMIM:162300
Hyperparathyroidism jaw tumour syndromeOMIM:145001
Li Fraumeni syndromes,TP53 and CHECK associated OMIM:151623
Fanconi anemia, FANC-A,FANC-COMIM:605278,OMIM:604296
Dyskeratosis congenita ,DKCA1,DKCA2,DKCA3,DKCB1, DKCB2, DKCB3,DKCB5,DKCB6OMIM:127550,{omim,OMIM:613990,OMIM:224230,OMIM:613987, OMIM:613988,OMIM:615190,OMIM:616353
Ataxia telangiectasiaOMIM:208900
Bloom syndromeOMIM:210900
Von-Hippel LindauOMIM:193300
Tuberous scerosis 1.1OMIM:191100,OMIM:613254

Article Bibliography

Reference NumberPubmed IDLast YearTitleAuthors
1353129812022Update from the 5th Edition of the World Health Organization Classification of Head and Neck Tumors: Familial Tumor Syndromes.Nosé V et al

Citation

Paola Dal Cin, PhD

Genetic tumor syndromes involving head and neck

Atlas Genet Cytogenet Oncol Haematol. 2025-04-07

Online version: http://atlasgeneticsoncology.org/solid-tumor/209319/genetic-tumor-syndromes-involving-head-and-neck