TY - JOUR
T1 - Germline Variations in Patients With Oral Squamous Cell Carcinoma-Systematic Review
AU - Dutra, Mateus José
AU - Schuch, Lauren Frenzel
AU - Loureiro, Felippe José Almeida
AU - Silveira, Felipe Martins
AU - Lopes, Marcio Ajudarte
AU - Martins, Manoela Domingues
AU - Arriagada, Wilfredo Alejandro González
AU - Farias, Daniela Adorno
AU - Fernández-Ramires, Ricardo
AU - Wagner, Vivian Petersen
N1 - © 2025 John Wiley & Sons Ltd.
PY - 2025/7/20
Y1 - 2025/7/20
N2 - OBJECTIVE: Integrate studies on germline variations (GV) in patients with oral squamous cell carcinoma (OSCC), aiming to assess the highest frequencies of which genes were altered in patients with this diagnosis.METHODS: An electronic search was conducted in four databases and in the gray literature, following the PRISMA 2020 recommendations. Case reports, case series, case-control studies, cross-sectional studies, prospective cohort studies, and retrospective cohort studies reporting GV in patients with OSCC were included for data extraction.RESULTS: Twenty articles were included, covering 146 cases of OSCC. Patients had a mean age of 47.5 years; the majority were male, non-drinkers, and non-smokers. For most cases, p16 staining and human papilloma virus (HPV) status were not investigated/reported. A total of 231 different GV genes were identified in the 146 patients, with the most frequently altered being ND5 (6.1%), CYTB (4.8%), COX1 (4.6%), PDE4DIP (4.1%), ND1 (3.9%), ND4 (3.2%), ND2 (2.7%), ATP6 (2.7%), CDKN2A (2.6%), COX2 (2.4%), COX3 (2.2%), and ND3 and ND6, both accounting for 2% each.CONCLUSION: This review compiles important data on the most frequent GV in patients with OSCC, enabling new understandings of oral carcinogenesis, as well as future directions for prognosis and treatment.
AB - OBJECTIVE: Integrate studies on germline variations (GV) in patients with oral squamous cell carcinoma (OSCC), aiming to assess the highest frequencies of which genes were altered in patients with this diagnosis.METHODS: An electronic search was conducted in four databases and in the gray literature, following the PRISMA 2020 recommendations. Case reports, case series, case-control studies, cross-sectional studies, prospective cohort studies, and retrospective cohort studies reporting GV in patients with OSCC were included for data extraction.RESULTS: Twenty articles were included, covering 146 cases of OSCC. Patients had a mean age of 47.5 years; the majority were male, non-drinkers, and non-smokers. For most cases, p16 staining and human papilloma virus (HPV) status were not investigated/reported. A total of 231 different GV genes were identified in the 146 patients, with the most frequently altered being ND5 (6.1%), CYTB (4.8%), COX1 (4.6%), PDE4DIP (4.1%), ND1 (3.9%), ND4 (3.2%), ND2 (2.7%), ATP6 (2.7%), CDKN2A (2.6%), COX2 (2.4%), COX3 (2.2%), and ND3 and ND6, both accounting for 2% each.CONCLUSION: This review compiles important data on the most frequent GV in patients with OSCC, enabling new understandings of oral carcinogenesis, as well as future directions for prognosis and treatment.
U2 - 10.1111/odi.70040
DO - 10.1111/odi.70040
M3 - Review article
C2 - 40684456
SN - 1354-523X
JO - Oral Diseases
JF - Oral Diseases
ER -