Term
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Definition
-Highly Aggressive - Lymphatic system, B lymphocyte - presents at extranodal sites or as acute leukaemia -African: often presents in mandible, EBV -Non-endemic:ileocecal or peritoneal mass, t(8:14) -EBV infections also implicated (immunodeficiency) - 30% NHL in US=BL |
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Term
| Multiple Endocrine Neoplasia type 2 (MEN2A and B) |
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Definition
Familial medullary thyroid carcinoma, pheocryocytoma
MEN2A: risk of parathyroid adenoma
MEN2B: mucosal neuromas
Gain of funciton mutations in teh tyrosine kinase receptor RET |
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Term
| Hereditary Papillary Renal Carcinoma |
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Definition
| gain of func mutations in MET tyrosine kinase |
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Term
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Definition
-RB1 mutation: 40% inherited, 1 inherited and 1 somatic allele -dominant triat -rare malignant tumor of the retina -60% sporatic -familial cases almost always bilateral -sporadic unilateral |
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Term
| Neurofibromatosis type I(NF1) |
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Definition
AD, complete penetrance by age 5 - variable in presentation, even w/in family - 50% of cases are new mutations - truncal freckling, cafe-au-lait spots - multiple neurofibromata - Lisch nodules in iris |
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Term
| Neurofibromatosis type 2(NF2) |
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Definition
AD, chr. 22,
-mutations in the gene encoding Merlin, a sytoskeletal protein acting as a neg regulator in the Hippo pathway, hence a tumor suppressor |
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Term
| Cowden disease Proteous syndrome |
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Definition
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Term
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Definition
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Term
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Definition
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Term
| Hereditary Non Polyposis Colorectal Cancer (HNPCC) |
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Definition
5% of all colorectal cancer, colon is major affected organ
-mutations in any of 6 mismatch repair genes
-MLH1 and 2 most frequent
-can also cause endometrial cancer
-important diagnostic tool: extensive microsatellite instability |
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Term
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Definition
AR, light-sensitive pigmented rash
-skin malignancy in sun-exposed areas, 2000-5000 higher risk for malignant melanoma
-progressive neurologic degeneration in some patients
-Nucleotide excision repair defect of pyrimidine dimers caused by UV light
-XP-C most common of the seven complementation groups |
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Term
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Definition
AR
-upper limb abnormalities
-increased pigmentation
-bone marrow failure: pancytopenia
-increased risk for leukemia, lymphoma and hepatic carcinoma
-multiple chrom breaks in cultured cells
-12 subtypes known |
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Term
| Nijmegen breakage syndrome (NBS) |
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Definition
| -very AR -chrom breadage, growth retardation, microcephaly, immunodeficiency and cancer -8Mb region on chrom 8p21 -Haplotype sharing: small region containing the NBS gene: nibrin -small head, bottom end of average height group -can lead to infections and cancer or -growth retardation and infertility |
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Term
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Definition
-AR -cerebellar ataxia and oculocutaneous telangiectasia (dilated blood vessels in the white of the eye, ears and face -increased risk for lymphoid cancer -Immunodeficiency -Extreme sensitivity to ionizing radiation -won't stop DNA synthesis after X-rays like normal cells -defects in DNA repair by homologous recombination -multi-system syndrome progressive neurodeeneration -its gene cods for DNA dependant protein phosphokinase, which acitvates p53 and is involved in G1->S and S->G2 |
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Term
| BRCA1 associated genome surveillance complex(BASC) |
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Definition
- at a double stranded break Nibrin, MRE11 and Rad50 assemble - Nibrin complexes with MRE11 and RAD50 at the double stranded break - MRE11 is mutated in Ataxia Telangiectasia-like syndrome(later onset and slower progression, very rare) -For RAD50 no mutations have been found - ATM (gene mutated in AT) is a component of this and is an early part of the damage-sensing mechanism and relays the signal to a variety of downstream targets in which BRCA1 is ferquently involved: DNA repair Apoptosis G1/S checkpoints Intra-S-checkpoints G2/M checkpoint Gene regulation Translation initiation |
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Term
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Definition
-AR
-small body size
-light sensitive facial rash
-predisposition to pymphoma and leukemia, ultrasensitive to chemotherapeutics
-increased chrom breaks in cultured cells, in particular after UV irradiation
-rate of sister chromatid exchange increased
-cancer as primary cause of death before age 30
-infertile males, subinfertile females
-immune deficiancies
-DNA helicase disorder |
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Term
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Definition
-Ar
-premature onset of age related phenotypes, including cancer
-Variegated translocation mosaicism: expansions of different structural chrom rearrangements in diff clones from the same cell line
-Hypersensitivity to agents that interfere with DNA replication
-DNA Helicase disorder |
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Term
| Cockayne Syndrome-I (CS)(about 25% of the cases) |
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Definition
- normal prenatal growth - growth and developmental abnormalities within 2 years. - HT, WT, HC < 5th %ile. - progressive neurological dysfunction. -ERCC8 mutations -cutaneous photosensitivity -leukodystrophy -thin skin, little fat, aged appearance -AR -life span about 13 years |
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Term
Cockayne Syndrome II (CS) (about 75
% of the cases) |
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Definition
-growth failure at birth, min post-natal neurological development
-ERCC6 mutations
-cutaneous photosensitivity
-leukodystrophy
-thin skin, little fat, aged appearance
-AR
-life span about 7 years |
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Term
| Dyskeratosis Congenita (DKC) |
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Definition
-X-linked recessive - defects in telomerase or associated proteins -inherited bone marrow failure syndrome -progressive pancytopenia -abnormal skin pigmentation -nail dystrophy -premalignant mucosal leucoplakia -poor dentition -reticular hyperpigmentation -aplastic anaemia -main causes of death are bone marrow failure, immunodeficiency, pulmonary complications, and malignancies -may observe anticipation |
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Term
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Definition
-fatal neurodegenerative disorder
-most common cause of dementia
-AD or multifactorial
-progressive degeneration of cerebral cortex
-short term mem loss
-progressive mem loss
-loss of bodily functions |
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Term
| Hutchinson-Gilford Progeria Syndrome |
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Definition
-premature, rapid aging
-micrognathia
-Alopcia
-lack of sub-cutaneous fat-aged look
-Artherosclerosis-fatal in teens
-most often due to mutation of G608 in Lamin A/C
- |
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Term
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Definition
AD Cancer predisposition syndrome associated with soft-tissue sarcoma, breast cancer, leukemia, osteosarcoma, and others increased risk for developing multiple primary cancers single mutation copy of p53 inherited |
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Term
| von Hippel-Lindau Syndrom (VHL) |
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Definition
AD VHL= ubiquitin ligase subunit inherited cancer syndrome -multiple hemangioblastomas of CNS and retina -other cancers: pheochromocytomas (adrenals, renal -LOH of VHL gene -increase HIF-1 regardless of O2 availability-->VEGF Hemangioblastomas (blood vessel tumours) -mutant cells produce VEGF and proliferate by over-rich nourishment |
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Term
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Definition
abnormally dense collections of dilated capillaries -in skin or subQ (most) -internal organs (complications) increase VEGF, bFGF decrease inhibitors (TNFbeta, TGFbeta, INFgama) superficial "strawberry nevus" (skin): benign most lesions spontaneously resolve within 1st 2-3yrs surgical removal/laser therapy |
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Term
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Definition
97% of these patients have philidelphia chrom ABL:BCR fusion protein constitutive TK activity |
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