描述可能与头颈癌发展相关的遗传变异并验证其分子含义的功能。一个3代家族进行了前瞻性观察研究，其中3名成员患有头颈癌。在一位亲属身上进行外显子测序和剩余12个亲属的基因分型样本常规程序中，采集了外周血样本。对于功能分析，从唾液和血清中提取全部反式视黄酸（atRA），使用超高性能液相色谱-串联质谱（UPLC-MS/MS）测定其浓度。存在的HPV-DNA。没有患者吸烟或饮酒。在任何活检样本中都没有检测到HPV DNA。共有13名成员中的6名（46.15％）携带CYP26B1（2p13.2; G> T）的相同突变。该研究家族的平均血浆atRA浓度为3.3109 ± 1.4791 pg / ml，对照组为4.7370 ± 1.5992 pg / ml（p = 0.042）。确认研究家族的atRA水平较低，这可能为CYP26B1（2p13.2; G> T）多态性和HNC之间的可能关系铺平道路。本文受版权保护。版权所有。

To describe the genetic variants that may be associated with the development of head and neck cancer (HNC) and functionally validating the molecular implications.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.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).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.This article is protected by copyright. All rights reserved.