Carcinoma, Merkel Cell study with SNP/CNV Genotypes (NGS), WGS data on dbGaP (37 participants)

phs003485 — Germline Genome Sequencing from Patients with Early-Onset Merkel Cell    Carcinoma

<p>Merkel cell carcinoma (MCC) is a rare neuroendocrine skin cancer associated with advanced age. Approximately 5% of cases are early-onset MCC, occurring in individuals younger than 50 years. This study used genome sequencing to identify germline risk factors among patients with early-onset MCC. The available data in the database of Genotypes and Phenotypes (dbGaP) includes genome sequencing of peripheral blood mononuclear cell (PBMC) DNA from 37 patients with early-onset MCC (age &#x3C; 50 years). Variants associated with cancer predisposition syndromes were identified in 7 (19%) of patients (<a href="https://www.ncbi.nlm.nih.gov/gene/472">ATM </a>= 2, <a href="https://www.ncbi.nlm.nih.gov/gene/672">BRCA1 </a>= 2, <a href="https://www.ncbi.nlm.nih.gov/gene/675">BRCA2 </a>= 1, <a href="https://www.ncbi.nlm.nih.gov/gene/7157">TP53 </a>= 1, and <a href="https://www.ncbi.nlm.nih.gov/gene/84061">MAGT1 </a>= 1). </p>