ATR gene mutations in HPV negative oropharyngeal cancer.
ATR gene mutations in HPV negative oropharyngeal cancer.
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HPV 阴性口咽癌中的 ATR 基因突变。
DOI：
10.1016/j.oraloncology.2016.12.009
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发表时间：
2017
期刊：
影响因子：
4.8
通讯作者：
Tavassoli,Mahvash
中科院分区：
文献类型：
--
作者：
Jeannon,Jean-Pierre;Tanaka,Akio;Thavaraj,Selvam;Guerrero-Urbano,Teresa;McGrath,JohnA;Tavassoli,Mahvash
在英国，ATR基因突变进行了检查，在9例回顾性确定的活检证实口咽鳞状细胞癌（OpSCC）的患者。在4例HPV阴性患者中，发现2例在外显子29、30和33中具有ATR突变。此外，这两名患者在外显子32和38也有SNP。另外两名HPV阴性患者在外显子30和38中具有SNP。ATR突变包括可能代表ATR基因功能丧失或改变的核苷酸取代或缺失。所有4例携带ATR突变/SNP的癌均为HPV阴性，5例HPV阳性患者中未发现ATR突变/SNP。这些结果表明，ATR的功能丧失可能是口咽癌病因学中的一个重要步骤。
In UK, ATR gene mutations were examined in 9 retrospectively identified patients with biopsy proven oropharyngeal squamous cell carcinoma (OpSCC). Out of 4 HPV negative patients, two were found to have ATR mutations in exons 29, 30 and 33. In addition, both these patients also had SNP in exons 32 and 38. A further two HPV negative patients had SNP in exons 30 and 38. The ATR mutations included nucleotide substitutions or deletions that could represent either loss or altered function of the ATR gene. All 4 carcinomas harbouring the ATR mutations/SNP were HPV-negative and no ATR mutations/SNP were found in the five HPV-positive patients. These results suggest that a functional loss of ATR may be an important step in the aetiology of oropharyngeal cancer.