Genetic tumor syndromes involving head and neck
2025-04-07 Paola Dal Cin, PhD Affiliation1.Brigham and Women's Hospital , Harvard Medical School, Boston , MA (USA)
Keywords
Hereditary genetic disorders, familiar predisposition, affected families, genetic counselingClassification
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 neck | OMIM | |
|---|---|---|
| Naevoid basal cell carcinoma (Gorlin) syndrome | OMIM:109400 | |
| Neurofibromatosis type 1 | OMIM:162200 | |
| Familal Adenomatous Polyposis with Gardner syndrome variant | OMIM:175100 | |
| Brooke-Spiegler syndrome | OMIM:605041 | |
| Cowden syndromes 1,4,5,6,7 | OMIM:158350,OMIM:615107,OMIM:615108,OMIM:615109, OMIM:616858 | |
| Familial paraganglioma syndromes | ||
| Succinate dehydrogenase (SDH)-deficient,PPGL1,2,3,4,5 | OMIM:168000,OMIM:601650, OMIM:605373 OMIM:115310, OMIM:614165 | |
| Multiple endocrine neoplasia 2B | OMIM:162300 | |
| Hyperparathyroidism jaw tumour syndrome | OMIM:145001 | |
| Li Fraumeni syndromes,TP53 and CHECK associated | OMIM:151623 | |
| Fanconi anemia, FANC-A,FANC-C | OMIM:605278,OMIM:604296 | |
| Dyskeratosis congenita ,DKCA1,DKCA2,DKCA3,DKCB1, DKCB2, DKCB3,DKCB5,DKCB6 | OMIM:127550,{omim,OMIM:613990,OMIM:224230,OMIM:613987, OMIM:613988,OMIM:615190,OMIM:616353 | |
| Ataxia telangiectasia | OMIM:208900 | |
| Bloom syndrome | OMIM:210900 | |
| Von-Hippel Lindau | OMIM:193300 | |
| Tuberous scerosis 1.1 | OMIM:191100,OMIM:613254 |
Article Bibliography
| Reference Number | Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|---|
| 1 | 35312981 | 2022 | Update 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
