Les_4_15102009 - monogenic conditions hereditary cancer syndromes inborn errors of metabolism connective tissue diseases neurodegenerative diseases

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monogenic conditions hereditary cancer syndromes inborn errors of metabolism connective tissue diseases neurodegenerative diseases susceptibility to infectious diseases gene therapy: current possibilities and future perspectives
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hereditary cancer syndromes the familial occurrence of cancer clinical oncogenetics hereditary breast- and ovarian cancer hereditary colorectal cancer
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hereditary cancer syndromes causes of cancer: environmental genetic hereditary factors: evidence positive family history as a risk factor concordance in twin studies occurrence cancer in certain ethnic groups
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family history as a risk factor for cancer important: number of affected relatives age at diagnosis colorectal cancer relative risk population risk 1/20 1 first degree relative 1/17 1 first and 1 second degree relative 1/12 1 first degree relative (age <45 years) 1/10 2 first degree relatives 1/6 autosomal dominant inheritance pattern 1/2
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sporadic, familial and hereditary tumours incidence age at diagnosis hereditary 5-10% familial 20-15% sporadic ~75% ~10% up to 30% up to 90% 4 0 number of affected relatives cumulative risk
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familial vs. hereditary
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familial vs. hereditary
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familial vs. hereditary OvCa 40j BrCa 38j BrCa 39j BrCa 50j BrCa 53j a priori risk: moderately increased mutations: ~20% a priori risk: highly increased mutations: ~80% familial breast cancer hereditary breast- and ovarian cancer Bil BrCa 41&47j
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hereditary cancer syndromes definition: clinical syndrome characterized by the preferential occurrence of certain tumours in a family general characteristics: specific tumours sometimes: associated clinical signs all: autosomal inheritance most: dominant, rarely: recessive most: genetic heterogeneity, variable penetrance
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autosomal dominant genes Adenomatous polyposis APC Hereditary Non-Polyposis Colorectal Cancer (HNPCC) MLH1, MSH2, MSH6, PMS2 Hereditary Breast- and Ovarian Cancer (HBOC) BRCA1, BRCA2 Neurofibromatosis types 1 & 2 NF1, NF2 Li-Fraumeni TP53 Retinoblastoma RB Von Hippel Lindau VHL Wilms’ tumors WT1 , 2 & 3 autosomal recessive genes Ataxia teleangiectasia ATM Bloom syndrome BLM Werner’s syndrome WRN Fanconi’s anemia FACC Xeroderma pigmentosum XPA-E , ERCC2-5 hereditary cancer syndromes
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hereditary cancer syndromes causal genes: tumour suppressor genes ‘caretakers’: conservation of genome integrity (mismatch repair genes, BRCA1 , BRCA2 , ATM ) ‘gatekeepers’: direct regulation of cellular growth and apoptosis ( APC , NF1 , VHL , TP53 )
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clues to an inherited form of cancer young age at diagnosis ‘young’ compared to the age at diagnosis observed in the general population aggregation of rare tumors association with congenital malformations multiple primary tumors in an individual e.g. breast and ovarian cancer in a patient bilateral tumors in paired organs e.g. bilateral breast cancer positive family history
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clues to an inherited form of cancer clinical diagnosis indication for molecular genetic testing
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This note was uploaded on 05/28/2010 for the course WE BIBI000000 taught by Professor Johangrooten during the Spring '10 term at Ghent University.

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Les_4_15102009 - monogenic conditions hereditary cancer syndromes inborn errors of metabolism connective tissue diseases neurodegenerative diseases

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