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- Title
Genetic linkage analysis of head and neck cancer in a Spanish family.
- Authors
Pérez‐Sayáns, Mario; Chamorro‐Petronacci, Cintia M.; Bravo, Susana B.; Padín‐Iruegas, María E.; Guitián‐Fernández, Esteban; Barros‐Angueira, Francisco; Quintas‐Rey, Rita; García‐García, Abel
- Abstract
Objectives: To describe the genetic variants that may be associated with the development of head and neck cancer (HNC) and functionally validating the molecular implications. Materials and Methods: A prospective observational study was carried out on a family of 3 generations in which 3 members had developed HNC. Peripheral blood sample was taken in a routine procedure for exome sequencing in one relative and genotyping in the remaining twelve relatives. For the functional analysis all‐trans retinoic acid (atRA) was extracted from saliva and serum and measured using ultra‐performance liquid chromatography–tandem mass spectrometry (UPLC‐MS/MS). The presence of HPV‐DNA. Results: None of the patients smoked or consumed alcohol. The presence of HPV DNA was not detected in any of the biopsied samples. A total amount of 6 members out of 13 (46.15%) carried out the same mutation of CYP26B1 (2p13.2; G>T). The mean plasma concentration of atRA was 3.3109 ± 1.4791 pg/mL for the study family and 4.7370 ± 1.5992 pg/mL for the controls (p = 0.042). Conclusion: Lower levels of atRA were confirmed in the study family, which may open the way to the possible relationship between the polymorphism CYP26B1 (2p13.2; G>T) and HNC.
- Subjects
SPAIN; SQUAMOUS cell carcinoma; GENOMICS; LIQUID chromatography-mass spectrometry; HEAD &; neck cancer; SCIENTIFIC observation; DESCRIPTIVE statistics; GENEALOGY; GENETIC variation; GENETIC polymorphisms; LONGITUDINAL method; TRETINOIN; DATA analysis software; GENETIC mutation; GENETIC techniques; DISEASE susceptibility; MOLECULAR biology; GENETICS; SEQUENCE analysis; GENOTYPES
- Publication
Oral Diseases, 2024, Vol 30, Issue 3, p1032
- ISSN
1354-523X
- Publication type
Article
- DOI
10.1111/odi.14572