Manning Danielle K, Shivdasani Priyanka, Koeller Diane R, Schwartz Alison, Rana Huma Q, Garber Judy E, Lindeman Neal I, Ghazani Arezou A
Department of Pathology, Brigham and Women's Hospital, Boston, MA, United States.
Division of Cancer Genetics and Prevention, Dana-Farber Cancer Institute, Boston, Massachusetts, United States.
Data Brief. 2021 Dec 1;39:107653. doi: 10.1016/j.dib.2021.107653. eCollection 2021 Dec.
Von Hippel-Lindau (VHL) syndrome is a hereditary cancer genetic condition associated with inactivating pathogenic alterations in the tumor suppressor gene located at 3p (short arm of chromosome 3). Classic features of VHL include clear cell renal cell carcinoma, hemangioblastomas of the brain, spinal cord, and retina, pheochromocytoma, pancreatic cysts, and neuroendocrine tumors. Two sets of genomic information may be available from patients with VHL: the germline data showing the constitutional genetic profile and somatic profile obtained from patient tumor(s). Here we present both somatic and germline dataset from heterozygous carriers of germline variants who exhibit non-syndromic VHL phenotypes. This data description article accompanies the paper "Pathogenicity of VHL variants in families with non-syndromic von Hippel-Lindau phenotypes: an integrated evaluation of germline and somatic genomic results'' by Huma Q. Rana, Diane R. Koeller, Alison Schwartz, Danielle K. Manning, Katherine A. Schneider, Katherine M. Krajewski, Toni K. Choueiri, Neal I. Lindeman, Judy E. Garber, Arezou A. Ghazani. We provide next generation sequencing (NGS) data obtained from DNA from tumors (renal cancer, bladder cancer, and cerebral hemangioblastoma) of three carriers. The somatic dataset was analyzed for single nucleotide variants (SNVs) and copy number variants (CNVs) in 447 cancer genes, and structural variation (SVs) in 191 regions across 60 genes for rearrangements. We also present germline raw NGS data and analyzed SNV and CNV data in exonic regions of 133 hereditary cancer genes obtained from the peripheral blood of two carriers.
冯·希佩尔-林道（VHL）综合征是一种遗传性癌症基因疾病，与位于3号染色体短臂（3p）上的肿瘤抑制基因的致病性失活改变有关。VHL的典型特征包括透明细胞肾细胞癌、脑、脊髓和视网膜的血管母细胞瘤、嗜铬细胞瘤、胰腺囊肿和神经内分泌肿瘤。VHL患者可能有两组基因组信息：显示构成性基因谱的种系数据和从患者肿瘤获得的体细胞谱。在这里，我们展示了具有非综合征性VHL表型的种系变异杂合携带者的体细胞和种系数据集。这篇数据描述文章与胡玛·Q·拉纳、黛安·R·凯勒、艾莉森·施瓦茨、丹妮尔·K·曼宁、凯瑟琳·A·施奈德、凯瑟琳·M·克拉耶夫斯基、托尼·K·乔艾里、尼尔·I·林德曼、朱迪·E·加伯、阿雷祖·A·加扎尼撰写的论文《非综合征性冯·希佩尔-林道表型家族中VHL变异的致病性：种系和体细胞基因组结果的综合评估》一同发表。我们提供了从三名携带者的肿瘤（肾癌、膀胱癌和脑血管瘤）DNA中获得的下一代测序（NGS）数据。对体细胞数据集分析了447个癌症基因中的单核苷酸变异（SNV）和拷贝数变异（CNV），以及60个基因的191个区域中的结构变异（SV）以检测重排。我们还展示了种系原始NGS数据，并分析了从两名携带者外周血获得的133个遗传性癌症基因外显子区域中的SNV和CNV数据。
