Germline mutations in shelterin complex genes are associated with familial glioma

Matthew N Bainbridge1, Georgina N Armstrong1, M Monica Gramatges1

  • 1Affiliations of authors: Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX (MNB, SNJ, HD, LL, JT, DMM, RAG); Codified Genomics, LLC, Houston, TX (MNB); Department of Pediatrics, Division of Hematology-Oncology, Dan L. Duncan Cancer Center (GNA, MMG, AAB, ST, YL, SEP, CCL, DWP, MLB) and Department of Neurosurgery (AJ), Baylor College of Medicine, Houston, TX; Department of Epidemiology and Public Health, Yale University School of Medicine, New Haven, CT (EBC); Department of Neurosurgery, Brigham and Women's Hospital, Boston, MA (EBC); Case Comprehensive Cancer Center, Case Western Reserve University School of Medicine, Cleveland, OH (JBS); Department of Epidemiology and Biostatistics, Georgia State University School of Public Health, Atlanta, GA (DI); Cancer Control and Prevention Program, Department of Community and Family Medicine, Duke University Medical Center, Durham, NC (DI, JS); Department of Surgery, Duke University Medical Center, Durham, North Carolina (FAO); Cancer and Radiation Epidemiology Unit, Gertner Institute, Chaim Sheba Medical Center, Tel Hashomer (SS); Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel (SiS); Institute of Cancer Epidemiology, Danish Cancer Society, Copenhagen, Denmark (CJ); Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey, UK (RSH); Mayo Clinic Comprehensive Cancer Center, Mayo Clinic, Rochester, MN (RBJ, DL); Department of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center, New York, NY (SHO, JLB); Department of Neurology, NorthShore University HealthSystem, Evanston, IL (RTM); Department of Neurological Surgery, University of California, San Francisco, San Francisco, CA (MRW, KMW); Department of Public Health Services, University of Alberta, Edmonton, Alberta, Canada (FGD); Departments of Neurology, Neurosurgery, and Preventive Medicine, University of Southern California Keck School of Medicine, Los Angeles, CA (RL); Department of Biostatistics (Sa

Related Concept Videos

The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
5.0K
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

2.9K
Mutations01:39

Mutations

Overview
98.5K
Cancer-Critical Genes II: Tumor Suppressor Genes01:05

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
10.5K
Mismatch Repair01:20

Mismatch Repair

Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
7.2K
Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
6.4K