Download Colorectal Cancer (2006) by Jim Cassidy, Patrick Johnston, Eric Van Cutsem PDF
By Jim Cassidy, Patrick Johnston, Eric Van Cutsem
Written by means of international experts at the topic, this reference comprehensively covers each element of colorectal melanoma. Addressing the molecular mechanisms, genetics, id, and treatment of sickness, this consultant covers new pharmaceutical advancements, present screening protocols, and smooth tools of sickness administration through experts at well known associations resembling the Royal Marsden medical institution, the Memorial Sloan Kettering melanoma middle, and the Vanderbilt-Ingram melanoma middle.
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Example text
Cell Cycle Checkpoint Kinase 2 Cell cycle checkpoint kinase 2 (CHEK2) is involved in cellular responses to DNA damage that culminate in cell cycle arrest, apoptosis, and/or DNA repair. A variant in CHEK2, 1100delC, has been shown to be causally involved in a small proportion of breast cancer families and acts as a lowpenetrance susceptibility allele for breast cancer, with a twofold increased breast cancer risk for carriers. In some breast cancer families there is an excess of colorectal cancer and so by inference, CHEK2 has been proposed as a colorectal cancer susceptibility gene (160).
However, some broad conclusions can be made on the basis of findings of available studies. It is clear that the risk of colorectal cancer is very high for carriers of biallelic MYH mutations and so surveillance seems appropriate, based on experience with cancer risk reduction in FAP. Patients shown to have multiple polyps should be referred to a regional clinical genetics center for APC gene testing and if negative, MYH analysis should be undertaken. If a mutation is identified, then at-risk relatives should be offered counseling and genetic testing.
The carboxy terminus of the APC protein not only binds microtubules but also the microtubule binding protein EB1 (108) and the tumor suppressor protein Dlg (109), both of which are implicated in tumorigenesis. Genotype–Phenotype Correlations From the outline of APC function described earlier, it might be suspected that mutations in particular regions of APC might be expected to give particular phenotypes. However, this is not as straightforward as might be expected. Genotype–phenotype correlations could help inform the clinical management of at-risk individuals since it may help predict the likelihood of extracolonic manifestations, such as desmoid disease.