دورية أكاديمية
أعرض في EDS

Genetic linkage analysis of head and neck cancer in a Spanish family.

التفاصيل البيبلوغرافية
العنوان: Genetic linkage analysis of head and neck cancer in a Spanish family.
المؤلفون: Pérez-Sayáns M; Oral Medicine, Oral Surgery and Implantology Unit, Faculty of Medicine and Dentistry, Santiago de Compostela University, Santiago de Compostela, Spain.; Institute of Health Research Institute of Santiago (IDIS), Santiago de Compostela, Spain., Chamorro-Petronacci CM; Oral Medicine, Oral Surgery and Implantology Unit, Faculty of Medicine and Dentistry, Santiago de Compostela University, Santiago de Compostela, Spain.; Institute of Health Research Institute of Santiago (IDIS), Santiago de Compostela, Spain., Bravo SB; Proteomic Unit, Health Research Institute of Santiago de Compostela (IDIS), University Clinical Hospital of Santiago de Compostela, Santiago de Compostela, Spain., Padín-Iruegas ME; Department of Functional Biology and Health Sciences, Faculty of Physiotherapy, Human Anatomy and Embryology Area, Vigo University, Pontevedra, Spain., Guitián-Fernández E; Mass Spectrometry and Proteomics Unit, University of Santiago de Compostela, Santiago de Compostela, Spain., Barros-Angueira F; Molecular Medicine Unit - Galician Public Foundation of Genomic Medicine, Consultation Building, Floor -2, University Hospital Complex of Santiago, Santiago de Compostela, Spain., Quintas-Rey R; Molecular Medicine Unit - Galician Public Foundation of Genomic Medicine, Consultation Building, Floor -2, University Hospital Complex of Santiago, Santiago de Compostela, Spain., García-García A; Oral Medicine, Oral Surgery and Implantology Unit, Faculty of Medicine and Dentistry, Santiago de Compostela University, Santiago de Compostela, Spain.; Institute of Health Research Institute of Santiago (IDIS), Santiago de Compostela, Spain.
المصدر: Oral diseases [Oral Dis] 2024 Apr; Vol. 30 (3), pp. 1032-1039. Date of Electronic Publication: 2023 May 01.
نوع المنشور: Journal Article; Observational Study
اللغة: English
بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 9508565 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1601-0825 (Electronic) Linking ISSN: 1354523X NLM ISO Abbreviation: Oral Dis Subsets: MEDLINE
أسماء مطبوعة: Publication: 2001- : Copenhagen, Denmark : Munksgaard
Original Publication: Houndmills, Basingstoke, Hampshire, UK : Stockton Press, c1995-
مواضيع طبية MeSH: Head and Neck Neoplasms*/genetics , Head and Neck Neoplasms*/blood , Tretinoin* , Retinoic Acid 4-Hydroxylase*/genetics , Genetic Linkage*, Humans ; Male ; Female ; Prospective Studies ; Middle Aged ; Spain ; Adult ; Pedigree ; Aged ; Mutation
مستخلص: 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.
(© 2023 The Authors. Oral Diseases published by Wiley Periodicals LLC.)
References: Ali, J., Sabiha, B., Jan, H. U., Haider, S. A., Khan, A. A., & Ali, S. S. (2017). Genetic etiology of oral cancer. Oral Oncology, 70, 23–28.
Bermejo‐Fenoll, A., & López‐Jornet, P. (2006). Familial oral lichen planus: Presentation of six families. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics, 102, e12–e15.
Castagnola, P., Zoppoli, G., Gandolfo, S., Monticone, M., Malacarne, D., Cirmena, G., Brown, D., Aiello, C., Maffei, M., Marino, R., Giaretti, W., & Pentenero, M. (2015). Genomic DNA copy number aberrations, histological diagnosis, oral subsite and aneuploidy in OPMDs/OSCCs. PLoS One, 10, e0142294.
Chang, J., Zhong, R., Tian, J., Li, J., Zhai, K., Ke, J., Lou, J., Chen, W., Zhu, B., Shen, N., Zhang, Y., Zhu, Y., Gong, Y., Yang, Y., Zou, D., Peng, X., Zhang, Z., Zhang, X., Huang, K., … Lin, D. (2018). Exome‐wide analyses identify low‐frequency variant in CYP26B1 and additional coding variants associated with esophageal squamous cell carcinoma. Nature Genetics, 50, 338–343.
Chen, H., Ge, L., Sui, Q., & Lin, M. (2015). Systematic review and meta‐analysis of the relationship between EPHX1 polymorphisms and the risk of head and neck cancer. PLoS One, 10(4), e0123347. https://doi.org/10.1371/journal.pone.0123347.
Dhanuthai, K., Rojanawatsirivej, S., Thosaporn, W., Kintarak, S., Subarnbhesaj, A., Darling, M., Kryshtalskyj, E., Chiang, C. P., Shin, H. I., Choi, S. Y., Lee, S. S., & Aminishakib, P. (2018). Oral cancer: A multicenter study. Medicina Oral, Patología Oral y Cirugía Bucal, 23, e23–e29.
dos Santos Costa, S. F., Brennan, P. A., Gomez, R. S., Fregnani, E. R., Santos‐Silva, A. R., Martins, M. D., de Castro‐Junior, G., Rahimi, S., & Fonseca, F. P. (2018). Molecular basis of oral squamous cell carcinoma in young patients: Is it any different from older patients? Journal of Oral Pathology & Medicine, 47, 541–546.
Fernández‐Mateos, J., Seijas‐Tamayo, R., Klain, J. C. A., Borgoñón, M. P., Pérez‐Ruiz, E., Mesía, R., del Barco, E., Coloma, C. S., Dominguez, A. R., Daroqui, J. C., Fernández Ruiz, E., Cruz‐Hernández, J. J., & González‐Sarmiento, R. (2017). Analysis of autophagy gene polymorphisms in Spanish patients with head and neck squamous cell carcinoma. Scientific Reports, 7, 6887.
Huang, S. H., & O'Sullivan, B. (2017). Overview of the 8th edition TNM classification for head and neck cancer. Current Treatment Options in Oncology, 18(7), 40. https://doi.org/10.1007/s11864‐017‐0484‐y.
Joly, S., Compton, L. M., Pujol, C., Kurago, Z. B., & Guthmiller, J. M. (2009). Loss of human beta‐defensin 1, 2, and 3 expression in oral squamous cell carcinoma. Oral Microbiology and Immunology, 24, 353–360.
Kane, M. A., Chen, N., Sparks, S., & Napoli, J. L. (2005). Quantification of endogenous retinoic acid in limited biological samples by LC/MS/MS. The Biochemical Journal, 388, 363–369.
Lek, M., Karczewski, K. J., Minikel, E. v., Samocha, K. E., Banks, E., Fennell, T., O'Donnell‐Luria, A. H., Ware, J. S., Hill, A. J., Cummings, B. B., Tukiainen, T., Birnbaum, D. P., Kosmicki, J. A., Duncan, L. E., Estrada, K., Zhao, F., Zou, J., Pierce‐Hoffman, E., Berghout, J., … Exome Aggregation Consortium. (2016). Analysis of protein‐coding genetic variation in 60,706 humans. Nature, 536, 285–291.
Lorenzo‐Pouso, A. I., Bravo, S. B., Carballo, J., Chantada‐Vázquez, M. D. P., Bagán, J., Bagán, L., Chamorro‐Petronacci, C. M., Conde‐Amboage, M., López‐López, R., García‐García, A., & Pérez‐Sayáns, M. (2022). Quantitative proteomics in medication‐related osteonecrosis of the jaw: A proof‐of‐concept study. Oral Diseases. https://doi.org/10.1111/odi.14201.
Misra, C., Majumder, M., Bajaj, S., Ghosh, S., Roy, B., & Roychoudhury, S. (2009). Polymorphisms at p53, p73, and MDM2 loci modulate the risk of tobacco associated leukoplakia and oral cancer. Molecular Carcinogenesis, 48, 790–800.
Møller, P., & Hovig, E. (2018). Our genes, our selves: Hereditary breast cancer and biological citizenship in Norway. Medicine, Health Care, and Philosophy, 21, 239–242.
Peng, C.‐T., Chen, J.‐C., Yeh, K.‐T., Wang, Y. F., Hou, M. F., Lee, T. P., Shih, M. C., Chang, J. Y., & Chang, J. G. (2003). The relationship among the polymorphisms of SULT1A1, 1A2 and different types of cancers in Taiwanese. International Journal of Molecular Medicine, 11, 85–89.
Pérez‐sayáns, M., Somoza‐Martín, J. M., Barros‐Angueira, F., Reboiras‐López, M. D., Rey, J. M. G., & García‐García, A. (2009). Genetic and molecular alterations associated with oral squamous cell cancer (review). Oncology Reports, 22, 1277–1282.
Pérez‐Sayáns, M., Suárez‐Peñaranda, J. M., Pilar, G. D., Barros‐Angueira, F., Gándara‐Rey, J. M., & García‐García, A. (2011). What real influence does the proto‐oncogene c‐myc have in OSCC behavior? Oral Oncology, 47, 688–692.
Rivera, C. (2015). Essentials of oral cancer. International Journal of Clinical and Experimental Pathology, 8, 11884–11894.
Scully, C. (2011). Oral cancer aetiopathogenesis; past, present and future aspects. Medicina Oral, Patología Oral y Cirugía Bucal, 16, 306–311.
Setién‐Olarra, A., Bediaga, N. G., Acha‐Sagredo, A., Marichalar‐Mendia, X., de Pancorbo, M. M., & Aguirre‐Urizar, J. M. (2016). Genomewide miRNA profiling of oral lichenoid disorders and oral squamous cell carcinoma. Oral Diseases, 22, 754–760.
Sharma, V., Nandan, A., Sharma, A. K., Singh, H., Bharadwaj, M., Sinha, D. N., & Mehrotra, R. (2017). Signature of genetic associations in oral cancer. Tumour Biology, 39, 1–9.
Stokes, A., Joutsa, J., Ala‐aho, R., Pitchers, M., Pennington, C. J., Martin, C., Premachandra, D. J., Okada, Y., Peltonen, J., Grénman, R., James, H. A., Edwards, D. R., & Kähäri, V. M. (2010). Expression profiles and clinical correlations of degradome components in the tumor microenvironment of head and neck squamous cell carcinoma. Clinical Cancer Research, 16, 2022–2035.
Suárez, C., Rodrigo, J. P., Ferlito, A., Cabanillas, R., Shaha, A. R., & Rinaldo, A. (2006). Tumours of familial origin in the head and neck. Oral Oncology, 42, 965–978.
Sun, W., Lv, W., Lv, H., Zhang, R., & Jiang, Y. (2016). Genome‐wide haplotype association analysis identifies SERPINB9, SERPINE2, GAK, and HSP90B1 as novel risk genes for oral squamous cell carcinoma. Tumour Biology, 37, 1845–1851.
Valdez, J. M., Nichols, K. E., & Kesserwan, C. (2017). Li‐Fraumeni syndrome: A paradigm for the understanding of hereditary cancer predisposition. British Journal of Haematology, 176, 539–552.
van der Waal, I. (2009). Potentially malignant disorders of the oral and oropharyngeal mucosa; terminology, classification and present concepts of management. Oral Oncology, 45, 317–323.
Venugopal, R., Bavle, R. M., Konda, P., Muniswamappa, S., & Makarla, S. (2017). Familial cancers of head and neck region. Journal of Clinical and Diagnostic Research, 11, ZE01–ZE06.
Vincent‐Chong, V. K., Salahshourifar, I., Woo, K. M., Anwar, A., Razali, R., Gudimella, R., Rahman, Z. A. A., Ismail, S. M., Kallarakkal, T. G., Ramanathan, A., Wan Mustafa, W. M., Abraham, M. T., Tay, K. K., & Zain, R. B. (2017). Genome wide profiling in oral squamous cell carcinoma identifies a four genetic marker signature of prognostic significance. PLoS One, 12, e0174865.
von Elm, E., Altman, D. G., Egger, M., Pocock, S. J., Gøtzsche, P. C., & Vandenbroucke, J. P. (2014). The strengthening the reporting of observational studies in epidemiology (STROBE) statement: Guidelines for reporting observational studies. International Journal of Surgery, 12, 1495–1499.
Warnakulasuriya, S. (2017). Diagnostic adjuncts on oral cancer and precancer: An update for practitioners. British Dental Journal, 223, 663–666.
Yu, H., Hemminki, A., Sundquist, K., & Hemminki, K. (2019). Familial associations of colon and rectal cancers with other cancers. Diseases of the Colon and Rectum, 62, 189–195.
Zakiullah, A., Khisroon, M., Saeed, M., Khan, A., Khuda, F., Ali, S., Javed, N., Ovais, M., Masood, N., Khalil, N. K., & Ismail, M. (2015). Genetic susceptibility to oral cancer due to combined effects of GSTT1, GSTM1 and CYP1A1 gene variants in tobacco addicted patients of Pashtun ethnicity of Khyber Pakhtunkhwa province of Pakistan. Asian Pacific Journal of Cancer Prevention, 16, 1145–1150.
Zeljic, K., Supic, G., Stamenkovic Radak, M., Jovic, N., Kozomara, R., & Magic, Z. (2012). Vitamin D receptor, CYP27B1 and CYP24A1 genes polymorphisms association with oral cancer risk and survival. Journal of Oral Pathology & Medicine, 41, 779–787.
Zhang, S., Sui, Y., Yan, S., Zhang, Y., Ding, C., Su, X., Xiong, J., & Wei, S. (2022). Retinoic acid and FGF10 promote the differentiation of pluripotent stem cells into salivary gland placodes. Stem Cell Research & Therapy, 13(1), 368.
فهرسة مساهمة: Keywords: all‐trans retinoic acid; genetic linkage; genotyping techniques; head and neck cancer; oral squamous cell carcinoma; whole exome sequencing
المشرفين على المادة: 5688UTC01R (Tretinoin)
EC 1.14.14.1 (Retinoic Acid 4-Hydroxylase)
EC 1.14.14.1 (CYP26B1 protein, human)
تواريخ الأحداث: Date Created: 20230407 Date Completed: 20240513 Latest Revision: 20240702
رمز التحديث: 20240703
DOI: 10.1111/odi.14572
PMID: 37026679
قاعدة البيانات: MEDLINE
الوصف
تدمد:1601-0825
DOI:10.1111/odi.14572