Bhalwani Familial Cancer Clinic, Princess Margaret Cancer Centre, University Health Network, Toronto, Ontario, Canada.
Department of Ophthalmology and Visual Sciences, Princess Margaret Cancer Centre, University Health Network, Toronto, Ontario, Canada.
Ophthalmic Genet. 2023 Jun;44(3):253-261. doi: 10.1080/13816810.2023.2191707. Epub 2023 Mar 27.
To report the genotype and phenotype of a cohort of unselected uveal melanoma (UM) patients who had germline multi-gene panel genetic testing, including the gene, from a large multi-ethnic cancer centre. We describe the central role of the medical genetics clinic in collaboration with oncologists in a mainstreaming model to facilitate genetic testing, counselling and streamlining of patients with hereditary cancer predisposition.
A retrospective chart review of clinical and genetic findings of unselected UM patients who had germline genetic testing between December 2019 and October 2021 was conducted. Extracted DNA from peripheral blood samples were analyzed with a multi-gene panel that included at least six genes associated with hereditary melanoma. The correlation between the genotype and the phenotype of the cohort was evaluated. Statistical analysis comprised descriptive and comparative statistics with significance assigned at < .05. The genetics clinic streamlined patients among the relevant oncology clinics for cancer screening in germline positive individuals.
In unselected UM patients, 3.5% (4/114) tested positive for a pathogenic variant. Germline status was associated with a family history of mesothelioma ( = .0015) and metastatic disease ( = .017). There were no other significant associations between the patient- or tumour-related characteristics and germline results.
A germline mutation was detected in 3.5% of unselected UM patients. The oncologist-initiated and genetics-led mainstreaming model is a straightforward process and can be utilized for offering genetic testing to all UM patients.
报告一组未经选择的葡萄膜黑色素瘤 (UM) 患者的基因型和表型，这些患者在一家大型多族裔癌症中心进行了种系多基因panel 基因检测，包括 基因。我们描述了医学遗传学诊所与肿瘤学家合作的核心作用，在一种主流模式下，为遗传性癌症易感性患者提供基因检测、咨询和简化流程。
对 2019 年 12 月至 2021 年 10 月间进行种系基因检测的未经选择的 UM 患者的临床和遗传发现进行回顾性图表审查。从外周血样本中提取的 DNA 用多基因panel 进行分析，该panel 至少包括 6 个与遗传性黑色素瘤相关的基因。评估了队列的基因型和表型之间的相关性。统计学分析包括描述性和比较性统计，显著性赋值为 <.05。遗传学诊所为种系阳性个体的癌症筛查在相关肿瘤学诊所中简化了患者。
在未经选择的 UM 患者中，3.5%（4/114）检测出致病性变体阳性。种系 状态与间皮瘤家族史（ = .0015）和转移性疾病（ = .017）相关。患者或肿瘤相关特征与种系 结果之间没有其他显著关联。
在 3.5%的未经选择的 UM 患者中检测到种系 突变。由肿瘤学家发起并由遗传学主导的主流化模式是一个简单直接的过程，可用于为所有 UM 患者提供基因检测。
