John W Henson

Encyclopedia of Hereditary Cancer

A Desktop Reference

• Gebundenes Buch

Produktbeschreibung

Encyclopedia of Hereditary Cancer: A Desktop Reference gives insights into this young and rapidly expanding field that combines oncology and genetics to achieve risk reduction, early detection, family risk management, and identification targeted treatments. While genetics and oncology are both well-developed knowledge areas, their combination in hereditary cancer yields an opportunity for new works that systemize knowledge for current researchers, practitioners, and students. The book exams 371 topics through the lens of hereditary cancer. There are no similar books that presents information in this manner. This reference work contains a complete list of terms and definitions which can be easily reference by researchers and clinicians working in this field.

Produktdetails

• Verlag: Elsevier Science
• Seitenzahl: 460
• Erscheinungstermin: 13. Juni 2024
• Englisch
• Gewicht: 450g
• ISBN-13: 9780443135750
• ISBN-10: 0443135754
• Artikelnr.: 68839986

Autorenporträt

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.

Inhaltsangabe

>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