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At least 199 records · Page 11Linked to original sources
PubMed1999

Breast cancer: genetic predisposition and exposure to radiation.

The identification of breast cancer susceptibility genes, such as BRCA1, BRCA2, ATM, and p53, has been accompanied by the examination of the effects of radiation in combination with genetic mutations at these loci. Women at high risk for developing breast cancer may respond differently than the general population to low- and high-dose radiation exposures associated with screening and treatment. Epidemiologic studies are being performed to investigate the effects of radiation on subsequent breast cancer development in genetically predisposed individuals. Mouse strains with specific genetic modifications are being created to study the consequence of both inherited mutations and radiation on mammary gland carcinogenesis. Finally, studies investigating DNA damage-response pathways after radiation exposure are being performed. Recent work on the effects of several known or suspected breast cancer susceptibility genes, alone or in combination with radiation, is presented here, and directions for future research are considered.

Animals↗
PubMed1998

Hereditary nonpolyposis colon cancer: genetic basis, testing, and patient-care issues.

PURPOSE/OBJECTIVES: To describe the general mechanisms of cancer development and the specific genetic basis for hereditary nonpolyposis colon cancer (HNPCC); to discuss methods of genetic testing, surveillance, and management guidelines; and to review relevant psychosocial issues. DATA SOURCES: Published papers, research reports, and books. DATA SYNTHESIS: Colorectal cancer is one of the most common neoplasms in humans and perhaps the most frequent form of hereditary neoplasia. HNPCC has an autosomal dominant pattern of inheritance with variable but high penetrance estimated to be about 90%. HNPCC underlies 0.5%-10% of all cases of colorectal cancer. CONCLUSIONS: An understanding of the mechanisms behind the development of HNPCC is emerging, and genetic presymptomatic testing, now being conducted in research settings, soon will be available on a widespread basis for individuals identified at risk for this disease. Complex medical, nursing, legal, ethical, and psychosocial issues demand oncology nurses' attention and understanding. IMPLICATIONS FOR NURSING PRACTICE: Oncology nurses in all settings play an integral role assisting patients in (a) understanding their genetic risk status and the implications of genetic testing, (b) making decisions regarding HNPCC genetic predisposition testing, and (c) understanding the meaning of DNA test results. Nurses also may assist patients in understanding and complying with recommended surveillance and management issues.

Colorectal Neoplasms, Hereditary Nonpolyposis↗
PubMed2005

Familial lung cancer: genetic susceptibility and relationship to chronic obstructive pulmonary disease.

Lung cancer continues to be the leading cause of cancer death, and although most lung cancer is attributable to cigarette smoking, underlying genetic susceptibility is suggested by studies demonstrating familial aggregation. The first family linkage study of lung cancer has identified linkage of lung, laryngeal, and pharyngeal cancer in families to a region on chromosome 6q23-25. Because lung cancer and chronic obstructive pulmonary disease (COPD) are known to aggregate in families beyond shared risk associated with smoking, the linkage results are compared and contrasted with results from genomewide linkage and association studies and candidate gene studies searching for genes for lung cancer, lung function, and COPD. Linkage on chromosome 6q to both lung cancer and lung function, and on 12 to lung cancer, COPD, and lung function, together with overlap in candidate genes for these outcomes, suggests that future research into underlying genetic mechanisms of lung disease would benefit from broadening the collection of family history data and better defining the "high risk" population. As familial risk of lung disease is better defined, referral into screening programs and prevention trials can be better targeted to reach families with both a history of lung cancer and COPD.

Genetic Linkage↗
PubMedDate not supplied

Cancer genetics and nursing practice: what every gastroenterology nurse needs to know.

Most nurses will care for and provide health information about cancer to a patient at some point in their careers. Cancer care will change dramatically in the coming years as a result of the translation of information gained from the Human Genome Project into clinical practice and the enhanced understanding of cancer at a molecular level. A select group of cancers, known as hereditary cancers, result from mutations in the germline that confer a greatly increased lifetime risk of developing cancer. Advances in technology and discoveries stemming from the Human Genome Project now provide the means to test individuals for the presence of mutations associated with some known hereditary cancer syndromes. Of particular importance to gastroenterology nurses are hereditary colorectal cancer syndromes. Although many ethical, legal, and psychosocial issues associated with testing remain unresolved, predisposition genetic testing is having a significant impact on health care. Nurses will have vital roles in the future assessing patients and their family members for increased cancer risk, educating them about the availability of testing, making referrals for cancer genetic counseling and risk assessment, and providing follow-up care in the community for patients found to be at increased risk.

Colorectal Neoplasms↗
PubMed1992

Colorectal cancer genetics.

Due to the accessibility of the intermediate steps in the progression of colorectal cancer and to the existence of heritable susceptibility to the disease, molecular genetic analysis of colorectal carcinogenesis seems likely to answer many of the questions concerning the fundamental nature of the common human epithelial cancers. Several genetic events appear to be required and, although there is no stringent adherence to any particular sequence of events, the accumulation of genetic defects does show some loose order. Each event must confer growth advantage in order to allow further clonal expansion. Such expansion then makes further events at other crucial loci more likely. Hence, the process proceeds until the tumour is capable of the destructive growth, infiltration and metastasis characteristic of malignancy. This review summarises recent important progress in our understanding of both constitutional and somatic molecular genetic events involved in the development of colorectal cancer. Germline changes responsible for syndromes, such as Familial Adenomatous Polyposis, which result in predisposition to large bowel neoplasia are discussed. The possibility that heritable mutations in tumour suppressor genes might confer susceptibility to apparently sporadic colorectal cancer is proposed.

Adenomatous Polyposis Coli↗
PubMed2002

Population aspects of cancer genetics.

A number of relatively rare, high-risk genes have been identified which predispose to common cancers such as breast, colon, and melanoma. Although these are clearly important in the clinical setting, it is also relevant to discuss the impact of these genes at the population level and to contrast these with that which could be ascribed to more common genetic variants which only confer a modest increased risk of cancer. In this review, we examine inferences about the role of genetics in cancer from ecological studies of incidence patterns from a number of population-based studies of familial and attributable risk. The relationship between the genetic model (genotypic risk, allele frequency, mode of inheritance) and the expected impact in the population in terms of both attributable risk and familial risk is presented. The advantages and limitations of using cancer occurrence in twins to measure the genetic contribution to specific cancer sites is discussed. The potential role of lower-penetrance genes in the overall cancer burden may be significant but may pose significant problems in the public health arena.

Alleles↗
PubMed2003

Developing culturally sensitive cancer genetics communication aids for African Americans.

The goal of this project was to develop educational materials to communicate genetic health information in a culturally sensitive manner. These materials were designed to communicate information about cancer risk, genetic testing options, and health management options in an African American kindred with a known BRCA1 mutation. Educational materials were pilot-tested in four African American focus groups varying in socioeconomic status and gender. The audiotaped focus groups consisted of presentation of the educational materials, followed by a feedback session led by an African American facilitator. Qualitative analysis of the focus group transcripts identified important themes and the educational materials were revised in response to the participants' suggestions. The products included a booklet and a flip chart for use in educational sessions. Focus group participants recommended a substantial reduction in technical detail, and recommended that information be personalized and made relevant to the lives of the target population. Other critical themes included the importance of building trust in the medical system and avoiding words and images that have strong negative associations in the African American community. Strategies that were successful included nontechnical images to explain genetic concepts, clip art images to energize and personalize word slides, vibrant color, identifiably African American figures, and the development of themes relevant to many African Americans. The use of these materials in an ongoing study offering BRCA1 counseling and testing to a large, rural Louisiana-based kindred will provide additional feedback about the effectiveness of the culturally tailored genetic education and counseling materials.

Adult↗
PubMed2002

The role of the nurse in cancer genetics.

Knowledge gained from the Human Genome Project and related genetic research is already impacting clinical oncology nursing practice. Because cancer is now understood to be a genetic disease, changes in the traditional approaches to prevention, diagnosis, and therapeutic management of cancer are becoming increasingly genetically based. Therefore, to ensure competency in oncology nursing practice at all levels, nurses must incorporate an understanding of the underlying biology of carcinogenesis and the molecular rationale underlying strategies to prevent, diagnose, and treat cancer.

Adult↗
PubMed2000

[Interest in breast cancer genetic testing among Icelandic women.].

OBJECTIVE: It is estimated that 6-10% of all breast cancers in Iceland can be attributed to inherited mutations in newly identified breast cancer susceptibility genes (BRCA1 and BRCA2). Before genetic testing becomes widely available in Iceland it is important to understand what motivates women s interest in undergoing testing as that will provide the data necessary for designing effective counseling interventions. Therefore, the aim of this population-based study was to examine interest in and predictors of interest in genetic testing among Icelandic women. MATERIAL AND METHODS: A randomly selected sample of 534 Icelandic women, who had not been previously diagnosed with breast cancer, completed questionnaires assessing, demographic/medical variables, interest in genetic testing, perceived risk of carrying mutations in BRCA1/2 genes, cancer-specific distress and perceived benefits and barriers of genetic testing. The mean age was 53.8 years and 197 of the women had at least one first degree-relative that had been diagnosed with breast cancer. RESULTS: Interest in testing was high with 74% of the women indicating that they were interested in testing. Family history of breast cancer was unrelated to interest in testing whereas perceived risk of being a mutation carrier was significantly and positively related to interest in testing. Interest in testing was also significantly higher among younger women and among women with higher levels of cancer-specific distress. The most commonly cited reasons for wanting to be tested were to increase use of mammography screening and to learn if one s children were at risk for developing cancer. The most commonly citied reasons against being tested were fear of being mutation carrier and worry that test results would not stay confidential. CONCLUSIONS: These results suggest that demand for genetic testing, once it becomes commercially available, among Icelandic women may be high even among women without family history of breast cancer. The results also suggest that genetic counseling needs to address women s breast cancer worries as that may increase the probability that the decision to undergo testing is based on knowledge rather than driven by breast cancer fear and distress.

English Abstract↗
PubMed2003

A cancer genetics education campaign: delivering parallel messages to clinicians and the public.

BACKGROUND: Up to 10% of all cancers are thought to have a familial basis through complex interactions between genes and environment. METHODS: A community-wide education campaign was conducted that included several elements: a five part television news series; an educational newsletter; web site pages and links to educational materials; a Continuing Medical Education (CME) program for professionals; and an evaluation survey. RESULTS: Survey estimates revealed that 39000 households recalled seeing the series; 14800 households changed their views about the risks of hereditary cancers; and about 9900 households were made more aware/informed about cancer and hereditary risk. CONCLUSION: This awareness campaign broadened public knowledge about the myths and realities associated with genetic factors and cancer risk. It reinforced the importance of early screening for persons at high risk of cancer due to hereditary factors.

Adolescent↗
PubMed2000

[Cancer genetics of TSC2 gene mutant(Eker) rat model].

Cancer is a heritable disorder of somatic cells. Environment and heredity both operate in the origin of human cancer. Hereditary cancers have been important in the understanding of carcinogenesis, and have pointed to the first tumor suppressor genes. Such a hereditary cancer was described in the rat by Reidar Eker in 1954. The Eker rat model of hereditary renal carcinoma is an example of a Mendelian dominantly inherited predisposition to a specific cancer in an experimental animal. We identified a germline mutation in the rat homologous to the human tuberous sclerosis gene (TSC2) as the predisposing Eker gene. The Eker rat provides a valuable experimental model for understanding the mechanisms of disease, and the development of the therapeutic treatments.

Animals↗
PubMed2000

Organizing cancer genetics programs: the Swiss model.

PURPOSE: Inherited predisposition to cancer is a complex issue, and risk assessment, counseling, and management are multidisciplinary tasks. An infrastructure is needed through which clinical services may be delivered and research activities conducted. METHODS: The Swiss Institute for Applied Cancer Research (SIAK) Network for Cancer Predisposition Testing and Counseling was established in 1999. The goals of the Network are to set common standards for clinical services, to coordinate research activities, to address psychosocial and ethical issues concerning genetic counseling and testing, and to translate the knowledge gained into medical practice. RESULTS: An algorithm for genetic testing and counseling of the families studied by the SIAK Network centers has been established in a consensual process. Eight regional centers currently operate according to this algorithm. Furthermore, a proposal has been submitted for the setup of a Swiss databank for the characterization of BRCA1 and BRCA2 mutation patterns and the identification of potentially unique mutations in probands who seek genetic counseling and testing at the respective centers of the SIAK Network. CONCLUSION: Our coordinated effort will ensure state-of-the-art genetic testing and counseling services in Switzerland and will allow us to acquire knowledge for appropriate risk assessment and surveillance/prevention strategies for individuals with an inherited cancer predisposition.

Adult↗
PubMed2000

Cancer genetics in primary care. When is genetic screening an option and when is it the standard of care?

In some families, predisposition to cancer is caused by a germline mutation in a single gene, which produces an autosomal dominant pattern of cancer transmission. Several hereditary cancer syndromes have been identified and for many of them, genetic testing is clinically available. Determining which patients are at risk for hereditary cancer begins by taking a complete family history. In particular, a three-generation family history and pedigree can provide valuable information for both patients and primary care physicians. When the history supports the possibility of hereditary cancer, a qualified genetic professional can assist with specific advice about testing and treatment options for the entire family. If pedigree analysis substantiates a heritable form of cancer, patients should be thoroughly informed about potential benefits, limitations, and risks of genetic screening and offered testing as appropriate. The ultimate goal is to reduce cancer morbidity and mortality through interventions that decrease cancer risk or increase early detection.

Adenomatous Polyposis Coli↗
PubMed1992

Colon cancer genetics.

The terms "hereditary," "sporadic," and "familial" colorectal cancer (CRC) suggest a knowledge of causation; however, current understanding of CRC does not permit categorization of differing CRC risks in accord with their cause per se. Despite these serious shortcomings, these terms are defined operationally on the basis of a family history of cancer, and when available, additional phenotypic information. The sporadic type occurs in the absence of a family history of CRC in a first-degree relative. The familial type occurs when at least one first-degree relative has CRC. Both these categories require the exclusion of hereditary CRC. In the case of hereditary CRC, this type is defined as a family history of CRC occurring in a pattern that indicates autosomal-dominant inheritance, which also may involve certain phenotypic signs (depending on the specific disorder, i.e., florid adenomatous polyps, benign and malignant extracolonic lesions, cancer of unusually early onset, and multiple primary cancer, particularly synchronous and metachronous CRC). Although this operational classification does not produce etiologically homogeneous groups, it is believed to have pragmatic utility with respect to planning targeted surveillance and management strategies. Because of the distinctive natural history of CRC in hereditary syndromes, it is of paramount clinical importance to identify hereditary CRC when it does occur. Even in patients with no evidence of hereditary CRC syndrome, their family history may be second only to age in determining the best CRC screening program for those who are asymptomatic. In an attempt to provide a perspective on the clinical evaluation of CRC risk, research was reviewed on pathologic features and biomarkers that may be related to CRC causes, especially the genetic basis of CRC susceptibility. The long-term objective of studies on the genetic epidemiology of CRC is primary and secondary prevention through development of targeted management and surveillance recommendations (based on an understanding of CRC causation) that is relevant to hereditary, familial, and sporadic CRC.

Adult↗
PubMed2005

Referrals of patients to colorectal cancer genetics services in south-east Scotland.

The discovery that genetic factors are involved in the aetiology of colorectal cancer, has prompted many relatives of affected individuals to seek genetic counselling and screening. This paper describes the demand for genetic services by families with colorectal cancer in south-east Scotland, their expectations and views of the service offered. The annual referral rate over the 21-month study period, for patients with a family history of colorectal cancer, was 0.11 per 1000 patients on general practitioner lists. This is one third of the rate for patients with a family history of breast cancer and in comparison with the breast cancer group, relatives of colorectal cancer patients were significantly older and less socially deprived. Approximately one third were referred via a hospital specialist unit. One hundred patients were included in the study. Mean (+/- standard deviation) age was 43 (+/- 10.7 years), 75 were female and 31 were self referrals. Before the consultation, almost half the patients had an inflated perception of their risk and there was little change at follow-up. There was an improvement in objective understanding after counselling which was sustained up to 6 months but only two thirds remembered their objective risk accurately. Most patients were satisfied with the consultation. Our findings suggest the need to educate individuals, in particular men, younger people and the more socially deprived, about the relevance of a family history of colorectal cancer and to facilitate patients' comprehension of their risk status.

Adult↗
PubMed2005

Nonviral delivery of cancer genetic vaccines.

The potential use of genetic vaccines to address numerous diseases including cancer is promising, but currently unrealized. Here, we review advances in the nonviral delivery of antigen-encoded plasmid DNA for the purpose of treating cancer through the human immune system, as this disease has drawn the most attention in this field to date. Brief overviews of dendritic cell immunobiology and the mechanism of immune activation through genetic vaccines set the stage for the desirability of delivery technology. Several promising nonviral delivery techniques are discussed along with a mention of targeting strategies aimed at improving the potency of vaccine formulations. Implications for the future of genetic vaccines are also presented.

Cancer Vaccines↗
PubMed1998

At-risk for cancer: genetic discrimination in the workplace.

PURPOSE/OBJECTIVES: To discuss the complexity of issues related to genetic discrimination in the workplace against individuals identified as at risk for cancer. DATA SOURCES: Professional literature; local and national laws. DATA SYNTHESIS: A brief historical perspective on genetic discrimination is provided. Employment discrimination, insurance, job retention, and hiring issues facing cancer survivors and individuals genetically identified as at risk for cancer are discussed. State and federal initiatives that deal with these issues are examined, and strategies are proposed to prevent issues relating to genetic discrimination. CONCLUSIONS: Genetic discrimination, in all of its forms, is likely to emerge as a major challenge in the next century. IMPLICATIONS FOR NURSING PRACTICE: Oncology nurses must recognize new opportunities, assume new roles, and ready themselves for the challenges associated with this new kind of oncology nursing practice and the reality of genetic testing and disclosure.

Civil Rights↗
PubMed2004

Optimising clinical practice in cancer genetics with cultural competence: lessons to be learned from ethnographic research with Chinese-Australians.

Hereditary cancer is about families, and clinicians and genetic counsellors need to understand the cultural beliefs of patients and families about cancer and inheritance. In the light of their kinship patterns Chinese-Australians were chosen for the present study, which aims to determine the explanatory models of inheritance, cancer, and inherited cancer, with a view to identifying the relationship between these culture-specific lay attributions and help-seeking behaviour, and to identify possible barriers to genetic counselling and testing. Qualitative ethnographically informed methodology involving semi-structured interview was used as a method to uncover latent beliefs held by the families who are represented by the subjects. In-depth interviews were conducted with 16 informants of Chinese ethnicity, who had been recruited through two major Sydney familial cancer clinics. We report the attributions of cancer in general, then on inheritance, kinship, genes and genetics and then focus on the way in which these beliefs come together around hereditary cancer. The majority of informants, despite high acculturation and belief in biomedical explanations about hereditary cancer, also acknowledged the influence of traditional family Chinese beliefs, where 'inheritance' and 'genetics' were related to retribution for ancestral misdeeds and offending ancestors. Extensive mismatch of attributes and beliefs were identified in those who attended the clinic and senior family members, creating barriers to optimal service utilisation. Three traditional patterns of beliefs were identified: (a) father and mother contributed in equal share to one's genetic makeup, linked to the ying-yang theory; (b) the dominance of life force (yang chi) and the shaping of genes were transmitted through the paternal line; and (c) natural and supernatural forces operated in the cause of hereditary cancer. The study provided guidance for clinical practice. Exploration and acknowledgement of family beliefs, regardless of cultural background and therefore avoiding stereotyping, can enable the clinician to work with the whole family-those who hold Western attributions, those who maintain traditional notions of genetics and inheritance, and those who incorporate both into their belief systems-and provide effective clinical services. Further ethnographic studies are needed, focusing on the Chinese groups who do not attend the clinic and those with lower acculturation and educational levels.

Adult↗