Inherited predispositions

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  • Inherited Predisposition to Lung Cancer While an inherited predisposition to develop lung cancer is not common, several features suggest a potential for familial association. People with inherited mutations in RB (patients with retinoblastomas living to adulthood) and p53 (LiFraumeni syndrome) genes may develop lung cancer. First-degree relatives of lung cancer probands have a two- to threefold excess risk of lung cancer or other cancers, many of which are not smoking-related.

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  • Medical Ethics and New Technologies The rapid pace of technological advances has profound implications for medical applications far beyond their traditional roles to prevent, treat, and cure disease. Cloning, genetic engineering, gene therapy, human-computer interfaces, nanotechnology, and designer drugs have the potential to modify inherited predispositions to disease, select desired characteristics in embryos, augment "normal" human performance, replace failing tissues, and substantially prolong life span.

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  • I wrote the first edition of this book more than 20 years ago, and the discoveries in genetics since then have been phenomenal. The new knowledge and applications of human genetics to health and to society have made it even more necessary that nurses "think genetically" in their practice and, indeed in their lives. Genetic factors can be responsible in some way for both direct and indirect disease causation; for variation that determines predisposition, susceptibility, and resistance to disease and also for response to therapeutic management.

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  • The Cancer Handbook is a major new reference work that provides a comprehensive overview of cancer, biology and medicine. All aspects of scientific and clinical information in cancer research and medicine are explored in this expansive resource for a wide audience including medical and life science students, as well as researchers, scientists and clinicians in the cancer field and related biomedical areas.

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  • A major pan-European study showed that survival rates in England and Scotland were lower than in other European countries in the 1980s. 6 This was probably due, at least in part, to the fact that British patients tended to have more advanced disease at the time of diagnosis. It is not yet known whether the discrepancy in outcomes has been reduced in the period since this study was carried out. Risk factors The causes of breast cancer are complex. It has been suggested that up to 10% of patients may have an inherited predisposition to the disease.

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  • The second requirement is a clear and well defined starting point. For popu- lation-based cancer registries, the starting date (from which the survival is calculated) is the incidence date (see Section 17.3.1). The third requirement is a clear and well defined outcome. Death is gener- ally the outcome of interest, but some registries collect enough data to allow them to conduct analyses using recurrence of tumour, or first recurrence of a particular complication, as the outcome of interest.

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  • Multiple pregnancy involves more than one embryo (fetus) in any one gestation. Two independent mechanisms may lead to multiple gestation: segmentation of a single fertile ovum (identical, monovular, or monozygotic) or fertilization of separate ova by different spermatozoa (fraternal or dizygotic) multiple pregnancy. In the development of twins (the most frequent higher-order gestation), monozygotism is constant ( 2.3–4/1000 deliveries), whereas dizygotism has certain predispositions. Dizygotic twinning is inherited as a recessive autosomal trait via the female descendants.

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  • Familial Cancer Syndromes A small fraction of cancers occur in patients with a genetic predisposition. In these families, the affected individuals have a predisposing loss-of-function mutation in one allele of a tumor-suppressor gene or caretaker gene. The tumors in these patients show a loss of the remaining normal allele as a result of somatic events (point mutations or deletions), in agreement with the Knudson hypothesis (Fig. 79-3).

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