Encyclopedia of Hereditary Cancer

ISBN-13: 9780443135750 / Twarda / 2024 / 400 str.

Au Georgia Cancer Center John W. (Hereditary Cancer Clinic

Spis treści

1 Activating Variant IMAGE CONCEPT include hemizygous

1. Allele
2. Allele frequency
3. Allelic disorder
4. Allelic dropout
5. Alteration/variant/ mutation
6. Alternate parentage
7. Alu repeats
8. Amino acid
9. Amplicon. Include tiling density
10. Amplification
11. Aneuploid
12. Angiomyolipoma
13. Ankyrin repeat
14. Anticipation
15. APOBEC
16. Aspirin
17. Autosomes
18. Autosomal dominant
19. Autosomal recessive
20. Basal cell carcinoma
21. Base excision repair
22. BAP1 tumor predisposition syndrome
23. Belzutifan
24. Biallelic
25. Biallelic/compound heterozygosity
26. Birt Hogg Dube syndrome
27. Blastomere
28. BRCA pathway
29. Breast carcinoma
30. Breast tissue density
31. Bromodomain
32. BRRS
33. Cancer risk factors
34. CanRisk estimator
35. Carcinoma of unknown primary
36. Carotid body tumor
37. Cascade testing
38. Catalytic RNA
39. cfDNA/ctDNA
40. Checkpoint inhibitor
41. CHIP/ACE
42. Chorionic villus sampling
43. Chromosomal changes
44. Chromosomal microarray
45. Chromosomes
46. Cis
47. Colorectal cancer
48. Communicating results
49. Compound heterozygote
50. Congenital hypertrophy of the retinal pigment epithelium
51. Consanguinity
52. Constitutional/germline/gonadal
53. Constitutional mismatch repair deficiency
54. Consultand
55. Contiguous gene deletion syndrome
56. Copy-neutral loss of heterozygosity
57. Copy number alteration
58. Cortical tuber
59. Cowden syndrome
60. CpG island methylator phenotype
61. CpG islands
62. Deamination
63. Deletion
64. Delphi process
65. De novo hereditary/de novo tumor
66. De novo variant
67. DICER1 syndrome
68. Differing interpretation from two testing companies
69. Digenic modifiers
70. Digenic inheritance
71. Diploid
72. DNA damage
73. DNA - mitochondrial
74. DNA - nuclear
75. DNA quality
76. DNA repair
77. DNA sequence alterations - endogenous metabolic damage causing abundant G:C>T:A transversions
78. DNA sequence alterations - cytosine deamination
79. DNA sequence alterations - endogenous metabolic damage
80. DNA sequence alterations - environmental
81. DNA sequence alterations - replication
82. Dominant negative
83. Double heterozygote
84. Double somatic
85. Double strand break
86. Driver mutation
87. Duplication
88. Duty to recontact with new information
89. Dysplastic gangliocytoma of the cerebellum
90. Embryonic lethal
91. Endoscopic ultrasound
92. Endometrial carcinoma
93. Endolymphatic sac tumor
94. Environmental influences
95. Epigenetics
96. Epimutation
97. Epimutations
98. Esophagoduodenoscopy
99. Estrogen
100. Everolimus
101. Exon
102. Exonuclease
103. Expression
104. Familial
105. Familial adenomatous polyposis
106. Familial atypical multiple mole melanoma syndrome
107. Familial isolated pituitary adenoma
108. Familial medullary thyroid cancer
109. Fanconi anemia
110. FDA label
111. Fidelity
112. First degree relative
113. Fluorescent in situ hybridization
114. Founder variants
115. Frameshift
116. Functional haploidy
117. Fusion
118. Gain of function
119. Gamete
120. Gastric adenocarcinoma and proximal polyposis of the stomach
121. Gastric cancer
122. Gastro-entero-pancreatic
123. Gene conversion
124. Gene conversion/reduction to homozygosity
125. Gene dosage
126. Genes
127. Genetic
128. Genetic modifiers
129. Genome-wide loss of heterozygosity
130. Genome sequencing/ES
131. Genomic
132. Germline
133. GINA
134. Glomus tumors
135. Gonadal mosaicism
136. Glycosylase
137. Gorlin syndrome
138. Hamartin
139. Hamartoma
140. Haploid
141. Haploinsufficiency vs spontaneous mutation, noncancer syndromic features
142. Hedgehog
143. Hemangioblastoma
144. Hemizygosity
145. Hereditary
146. Hereditary breast and ovarian cancer syndrome
147. Hereditary diffuse gastric cancer
148. Hereditary/familial
149. Hereditary leiomyoma and renal cell cancer syndrome
150. Hereditary papillary renal cell carcinoma
151. Hereditary paraganglioma/pheochromocytoma
152. Heterozygous
153. HGVS nomenclature
154. Histones
155. Holliday junction
156. Homologous recombination deficiency
157. Homologous repair defect
158. Homozygous
159. Hormonal influence
160. Hotspot
161. Human reference genome
162. Hypomorphic variant - amorphic allele
163. Hypoxia
164. Immunohistochemistry
165. Immunotherapy
166. Imprinting
167. Inactivating
168. Indel
169. In-frame
170. Intron
171. Insertions and deletions
172. Ionizing radiation
173. Isodisomy
174. Juvenile Polyposis of Infancy
175. Kindred
176. Lagging strand
177. Large alterations - amplification
178. Large alterations - deletion
179. Large alterations - Fusion/translocation
180. Leiomyoma
181. Lipoma
182. Li-Fraumeni syndrome
183. Leading strand
184. Likely pathogenic variant
185. Limitations of reports
186. Lhermitte-Duclos
187. Locus
188. LOH
189. Loss of function
190. Loss of heterozygosity
191. Low allele frequency (10% reporting)
192. Lumpectomy
193. Lymphangioleiomyomatosis
194. Lynch syndrome
195. Lyonization
196. Macrocephaly
197. Malignant peripheral nerve sheath tumor
198. Magnetic resonance cholangiopancreatography
199. Mastectomy
200. Maternal to zygotic transition
201. Medical sophistication
202. Medullary thyroid cancer
203. Meiosis
204. Melanoma
205. Methylation
206. Mesothelioma
207. Metanephrines
208. Microdeletion
209. MicroRNA
210. Microsatellite
211. Microsatellite instability
212. Minor allele fraction (10% reporting threshold) see also VAF
213. Misincorporation
214. Mismatch repair
215. Missense variant
216. Mitosis
217. Molecular complexity
218. Monogenic
219. Mosaic
220. Mosaicism
221. Mosaicism, low level
222. Multifocal micronodular pneumocyte hyperplasia
223. Multiple endocrine neoplasia type 1
224. Multiple endocrine neoplasia type 2
225. Mutation cluster region
226. mRNA alterations
227. Muir-Torre syndrome
228. Multigene panel
229. Mutation
230. Mutation signature
231. MUTYH polyposis
232. National Comprehensive Cancer Network
233. Neurofibromatosis type 1
234. Neurofibromatosis type 2
235. Nevoid basal cell carcinoma
236. Next generation sequencing
237. Nephrectomy
238. Neuroendocrine tumor
239. Neurofibroma
240. Noninvasive prenatal diagnosis
241. Nonsense mediated decay
242. Nonsense variant
243. Nucleotide excision repair
244. Null mutation
245. Olaparib
246. Oncogene
247. Open reading frame
248. Orthogonal technique
249. Ovarian cancer
250. Overexpression
251. Oxidative damage
252. Paired tumor-germline testing
253. Pancreas cancer
254. Pancreatitis
255. Paraganglioma
256. Parent-of-origin effect
257. PARP
258. Pathway
259. Passenger mutation
260. Pathogenic variant
261. PD-L1
262. Pedigree
263. Pembrolizumab
264. Penetrance and expressivity
265. Peutz-Jegher syndrome
266. Pharmacogenomics
267. Phenocopies
268. Pheochromocytoma
269. Pituitary adenoma predisposition syndrome
270. Plexiform neurofibroma
271. Polyadenylation
272. Poly ADP ribose polymerase
273. Polygenic
274. Polymerase
275. Polymerase proofreading polyposis syndrome
276. Polymorphism
277. Polyp
278. POT1-tumor predisposition syndrome
279. Population database
280. Preimplantation genetic diagnosis
281. Prevention
282. Premature termination codon
283. Proband
284. Proficient
285. Promoter
286. Prostate cancer
287. Prostate specific antigen
288. Protein alterations
289. Pseudogene
290. PTEN hamartoma tumor syndrome
291. Red flags
292. Reduction to homozygosity
293. Reference genome
294. Reference transcript
295. Reimbursement
296. Renal cell carcinoma
297. Replication slippage
298. Reportable variants
299. Residual Risk
300. RET
301. Retinoblastoma
302. Reversion mutant
303. Ribosomal alterations
304. Risk assessment
305. Risk factors
306. Risk reducing surgery
307. Rhabdomyoma
308. Rs
309. Schwannomatosis
310. Scoliosis
311. Second hit
312. Sentinel lymph node
313. Simplex case
314. Single-base substitutions
315. Single nucleotide polymorphism
316. Single strand break
317. SNP
318. Somatic/tumor
319. Somatic variant classification
320. Splicing
321. Sporadic
322. Standardized uptake value
323. Subclone
324. Subependymal giant cell astrocytoma
325. Subependymal nodule
326. Surveillance
327. Syndromic
328. Synonymous mutation
329. Synonymous/silent variants. Splicing
330. Synthetic lethal
331. Targeted therapy
332. Telomere
333. Testing guidelines - shortcomings
334. Testing implications - benefits
335. Thyroid cancer
336. Tissues to test
337. Translocation
338. Transvaginal ultrasound
339. Tricholemmoma
340. Triploid - RCC MET
341. Topoisomerase
342. Trans
343. Transition
344. Transversion
345. Tuberin
346. Tuberous sclerosis complex
347. Tumor mutation burden
348. Tumor percentage
349. Tumor suppressor gene (TSG)
350. Two-hit (Knudson)
351. Tyrer-Cuzick risk estimation
352. Tyrosine kinase
353. Ultraviolet radiation
354. Uniparental disomy (isodisomy and heterodisomy)
355. Untranslated regions
356. Upstream regulatory regions
357. Uracil misincorporation
358. Variant allele frequency (also MAF)
359. Variant classification
360. Variant of uncertain significance
361. Variant not detected
362. Variant of uncertain significance
363. Vestibular schwannoma
364. Vismodegib
365. Von Hippel Lindau Syndrome
366. Whole body MRI
367. Zygosity
368. 8-oxoG
369. 5' untranslated region
370. 3' untranslated region