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DNA repair genes (2. Mismatch repair (HNPCC (germline mutations (mutations…
DNA repair genes
2. Mismatch repair
Errori polimerasi
HNPCC
increased incidence
autosomal dominant
germline mutations
mutations in different organs
hMLH1, hMSH2, MSH6, (PMS1, PMS2)
eterodimero MSH1, MSH2
Mutazioni in polimerasi delta ed epsilon
MSI
Paradosso
Teoria di Duesberg
aneuploidie
Chromosomal cancer theory
Carcinogens
Geni +/- espressi
Meccanismo autolimitante
chromosomal alterations potrebbero essere alla base
1. Nucleotide excision repair (NER)
Xeroderma pigmentosa
chemical adducts
carcinogens
3. Somatic mutational disorders
Età
Epigenetica
Loss of function
Accumulation of mutations
Indirectly involved in growth inhibition or differentiation