General References Buckingham L. Molecular diagnostics: fundamentals, methods and clinical applications. ed 2. F.A. Davis and Co: Philadelphia; 2011. Gardner RJM, Sutherland GR, Shaffer LG. Chromosome abnormalities and genetic counseling….
Molecular and Genome-Based Diagnostics Advances over the past few years in mutation detection have provided major improvements in risk assessment, carrier detection, and prenatal diagnosis, in many cases allowing determination…
Family History in Risk Assessment Family history is clearly of great importance in diagnosis and risk assessment. Applying the known rules of mendelian inheritance, as introduced in Chapter 7, allows…
Specific References Chen P-S, Su J-L, Hung M-C. Dysregulation of microRNAs in cancer. J Biomed Sci. 2012;19:90. Chin L, Anderson JN, Futreal PA. Cancer genomics, from discovery science to personalized…
General References Garraway LA, Lander ES. Lessons from the cancer genome. Cell. 2013;153:17–37. International Agency for Research on Cancer (IARC), World Health Organization. www.cruk.org/cancerstats; 2014. Schneider L. Counseling about cancer….
Cancer and the Environment Although the theme of this chapter emphasizes the genetic basis of cancer, there is no contradiction in considering the role of environment in carcinogenesis. By environment,…
Cytogenetic Changes in Cancer Aneuploidy and Aneusomy As introduced in Chapter 5, cytogenetic changes are hallmarks of cancer, whether sporadic or familial, particularly in later and more malignant or invasive…
Figure 15-10 Standardized incidence ratios (SIRs) for cancers at various sites in first-degree relatives (child or sibling) of an affected person. A SIR is similar to the relative risk ratio (λr) that…
