Department of Ophthalmology, The Ohio State University, 400 W 12th Ave, Rm 202, Columbus, OH 43210, USA.
Fam Cancer. 2011 Jun;10(2):319-21. doi: 10.1007/s10689-010-9401-2.
A high frequency of somatic mutation in GNAQ has been reported in uveal melanoma (UM). GNAQ is located in the chromosomal band 9q21, the same chromosomal band that harbors a putative candidate gene for hereditary UM. We investigated the frequency of germline sequence alterations in the GNAQ gene in UM patients with increased predisposition to hereditary cancer. A total of 44 high risk UM patients were studied including three patients with a family history of UM, 15 patients with a family history of cutaneous melanoma (CM), three patients with early age at onset of their UM (<30 years) and 23 patients with strong family history of cancer and/or personal history of multiple primary tumors. Mutational screening of the seven exons of GNAQ and nearby intronic sequence was carried out by direct sequencing. We identified two deep intronic variants but no potential pathogenic mutations in GNAQ. Our results exclude GNAQ as a candidate gene in UM patients with a high risk for hereditary cancer predisposition.
GNAQ 中的体细胞突变高频已在葡萄膜黑色素瘤（UM）中报道。GNAQ 位于染色体 9q21 带，该染色体带携带有遗传性 UM 的潜在候选基因。我们研究了具有遗传性癌症高易感性的 UM 患者中 GNAQ 基因的胚系序列改变的频率。共研究了 44 例高危 UM 患者，包括 3 例有 UM 家族史的患者，15 例有皮肤黑色素瘤（CM）家族史的患者，3 例 UM 发病年龄较早（<30 岁）的患者，以及 23 例有强烈的癌症家族史和/或个人多发性原发性肿瘤史的患者。通过直接测序对 GNAQ 的七个外显子和附近内含子序列进行了突变筛选。我们发现了两个深内含子变异，但在 GNAQ 中未发现潜在的致病性突变。我们的结果排除了 GNAQ 作为具有遗传性癌症高易感性的 UM 患者的候选基因。
