Encyclopedia of Hereditary Cancer. A Desktop Reference

Table of Contents

Activating Variant IMAGE CONCEPT include hemizygous Allele Allele frequency Allelic disorder Allelic dropout Alteration/variant/ mutation Alternate parentage Alu repeats Amino acid Amplicon. Include tiling density Amplification Aneuploid Angiomyolipoma Ankyrin repeat Anticipation APOBEC Aspirin Autosomes Autosomal dominant Autosomal recessive Basal cell carcinoma Base excision repair BAP1 tumor predisposition syndrome Belzutifan Biallelic Biallelic/compound heterozygosity Birt Hogg Dube syndrome Blastomere BRCA pathway Breast carcinoma Breast tissue density Bromodomain BRRS Cancer risk factors CanRisk estimator Carcinoma of unknown primary Carotid body tumor Cascade testing Catalytic RNA cfDNA/ctDNA Checkpoint inhibitor CHIP/ACE Chorionic villus sampling Chromosomal changes Chromosomal microarray Chromosomes Cis Colorectal cancer Communicating results Compound heterozygote Congenital hypertrophy of the retinal pigment epithelium Consanguinity Constitutional/germline/gonadal Constitutional mismatch repair deficiency Consultand Contiguous gene deletion syndrome Copy-neutral loss of heterozygosity Copy number alteration Cortical tuber Cowden syndrome CpG island methylator phenotype CpG islands Deamination Deletion Delphi process De novo hereditary/de novo tumor De novo variant DICER1 syndrome Differing interpretation from two testing companies Digenic modifiers Digenic inheritance Diploid DNA damage DNA mitochondrial DNA nuclear DNA quality DNA repair DNA sequence alterations endogenous metabolic damage causing abundant G:C>T:A transversions DNA sequence alterations cytosine deamination DNA sequence alterations endogenous metabolic damage DNA sequence alterations environmental DNA sequence alterations replication Dominant negative Double heterozygote Double somatic Double strand break Driver mutation Duplication Duty to recontact with new information Dysplastic gangliocytoma of the cerebellum Embryonic lethal Endoscopic ultrasound Endometrial carcinoma Endolymphatic sac tumor Environmental influences Epigenetics Epimutation Epimutations Esophagoduodenoscopy Estrogen Everolimus Exon Exonuclease Expression Familial Familial adenomatous polyposis Familial atypical multiple mole melanoma syndrome Familial isolated pituitary adenoma Familial medullary thyroid cancer Fanconi anemia FDA label Fidelity First degree relative Fluorescent in situ hybridization Founder variants Frameshift Functional haploidy Fusion Gain of function Gamete Gastric adenocarcinoma and proximal polyposis of the stomach Gastric cancer Gastro-entero-pancreatic Gene conversion Gene conversion/reduction to homozygosity Gene dosage Genes Genetic Genetic modifiers Genome-wide loss of heterozygosity Genome sequencing/ES Genomic Germline GINA Glomus tumors Gonadal mosaicism Glycosylase Gorlin syndrome Hamartin Hamartoma Haploid Haploinsufficiency vs spontaneous mutation, noncancer syndromic features Hedgehog Hemangioblastoma Hemizygosity Hereditary Hereditary breast and ovarian cancer syndrome Hereditary diffuse gastric cancer Hereditary/familial Hereditary leiomyoma and renal cell cancer syndrome Hereditary papillary renal cell carcinoma Hereditary paraganglioma/pheochromocytoma Heterozygous HGVS nomenclature Histones Holliday junction Homologous recombination deficiency Homologous repair defect Homozygous Hormonal influence Hotspot Human reference genome Hypomorphic variant amorphic allele Hypoxia Immunohistochemistry Immunotherapy Imprinting Inactivating Indel In-frame Intron Insertions and deletions Ionizing radiation Isodisomy Juvenile Polyposis of Infancy Kindred Lagging strand Large alterations amplification Large alterations deletion Large alterations Fusion/translocation Leiomyoma Lipoma Li-Fraumeni syndrome Leading strand Likely pathogenic variant Limitations of reports Lhermitte-Duclos Locus LOH Loss of function Loss of heterozygosity Low allele frequency (10% reporting) Lumpectomy Lymphangioleiomyomatosis Lynch syndrome Lyonization Macrocephaly Malignant peripheral nerve sheath tumor Magnetic resonance cholangiopancreatography Mastectomy Maternal to zygotic transition Medical sophistication Medullary thyroid cancer Meiosis Melanoma Methylation Mesothelioma Metanephrines Microdeletion MicroRNA Microsatellite Microsatellite instability Minor allele fraction (10% reporting threshold) see also VAF Misincorporation Mismatch repair Missense variant Mitosis Molecular complexity Monogenic Mosaic Mosaicism Mosaicism, low level Multifocal micronodular pneumocyte hyperplasia Multiple endocrine neoplasia type 1 Multiple endocrine neoplasia type 2 Mutation cluster region mRNA alterations Muir-Torre syndrome Multigene panel Mutation Mutation signature MUTYH polyposis National Comprehensive Cancer Network Neurofibromatosis type 1 Neurofibromatosis type 2 Nevoid basal cell carcinoma Next generation sequencing Nephrectomy Neuroendocrine tumor Neurofibroma Noninvasive prenatal diagnosis Nonsense mediated decay Nonsense variant Nucleotide excision repair Null mutation Olaparib Oncogene Open reading frame Orthogonal technique Ovarian cancer Overexpression Oxidative damage Paired tumor-germline testing Pancreas cancer Pancreatitis Paraganglioma Parent-of-origin effect PARP Pathway Passenger mutation Pathogenic variant PD-L1 Pedigree Pembrolizumab Penetrance and expressivity Peutz-Jegher syndrome Pharmacogenomics Phenocopies Pheochromocytoma Pituitary adenoma predisposition syndrome Plexiform neurofibroma Polyadenylation Poly ADP ribose polymerase Polygenic Polymerase Polymerase proofreading polyposis syndrome Polymorphism Polyp POT1-tumor predisposition syndrome Population database Preimplantation genetic diagnosis Prevention Premature termination codon Proband Proficient Promoter Prostate cancer Prostate specific antigen Protein alterations Pseudogene PTEN hamartoma tumor syndrome Red flags Reduction to homozygosity Reference genome Reference transcript Reimbursement Renal cell carcinoma Replication slippage Reportable variants Residual Risk RET Retinoblastoma Reversion mutant Ribosomal alterations Risk assessment Risk factors Risk reducing surgery Rhabdomyoma Rs Schwannomatosis Scoliosis Second hit Sentinel lymph node Simplex case Single-base substitutions Single nucleotide polymorphism Single strand break SNP Somatic/tumor Somatic variant classification Splicing Sporadic Standardized uptake value Subclone Subependymal giant cell astrocytoma Subependymal nodule Surveillance Syndromic Synonymous mutation Synonymous/silent variants. Splicing Synthetic lethal Targeted therapy Telomere Testing guidelines shortcomings Testing implications benefits Thyroid cancer Tissues to test Translocation Transvaginal ultrasound Tricholemmoma Triploid RCC MET Topoisomerase Trans Transition Transversion Tuberin Tuberous sclerosis complex Tumor mutation burden Tumor percentage Tumor suppressor gene (TSG) Two-hit (Knudson) Tyrer-Cuzick risk estimation Tyrosine kinase Ultraviolet radiation Uniparental disomy (isodisomy and heterodisomy) Untranslated regions Upstream regulatory regions Uracil misincorporation Variant allele frequency (also MAF) Variant classification Variant of uncertain significance Variant not detected Variant of uncertain significance Vestibular schwannoma Vismodegib Von Hippel Lindau Syndrome Whole body MRI Zygosity 8-oxoG 5' untranslated region 3' untranslated region

Authors

John W. Henson Hereditary Cancer Clinic, Georgia Cancer Center, Augusta, GA,USA.. Dr. Henson is director of the Hereditary Cancer Clinic at the Georgia Cancer Center, Medical College of Georgia, Augusta University, in Augusta, Georgia, USA. He has practiced neuro-oncology for over 25 years and is a well-published leader in several related fields, with over 125 papers and book chapters. He attended the Intensive Course in Cancer Genomic Risk Assessment at City of Hope in 2018. He was previously Chief of Oncology Services at Piedmont Healthcare and on the staff of Massachusetts General Hospital and the faculty of Harvard Medical School for 17 years. Dr. Henson is a member of numerous societies, including as an affiliate member of the American College of Medical Genetics.