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PubMed2002

Changes in psychological distress after cancer genetic counselling: a comparison of affected and unaffected women.

This study sought to examine changes in psychological distress following cancer genetic counselling. Women attending a family cancer clinic completed questionnaires before their appointment and at 2 weeks, 6 months and 12 months after their appointment. Twenty-six women were at low risk of developing breast or ovarian cancer, 76 were at moderate risk, 46 were at high risk and 46 women had previously had breast or ovarian cancer. All groups were compared with regard to measures of anxiety, depression, general psychological distress, worry about developing breast and ovarian cancer, and perceived risk of developing breast/ovarian cancer and perceived likelihood of carrying a genetic mutation. General psychological distress did not change over the course of the study and the groups did not differ on these measures. Worry about developing breast cancer and perceptions of the likelihood of carrying a genetic mutation significantly reduced following genetic counselling. On the whole women who had already had breast/ovarian cancer showed more concerns about ovarian cancer and raised perceptions of risk in comparison with the other groups, indicating the need for sensitive counselling of such women.

Anxiety↗
PubMed1998

Cancer genetic clinics: why do women who already have cancer attend?

Cancer patients attend oncogenetic clinics so that the existence of a genetic risk can be checked and the relatives informed. The aim of this study was to describe the expectations of cancer patients about genetic counselling and their beliefs about the aetiology of their disease. A survey based on self-administered questionnaires before and after the consultation was carried out on 115 women with breast/ovarian cancer who attended one of the six French participating clinics. In 59 cases (51%), the consultees' expectations focused on the preventive options available and in 86 cases (75%) on their offspring; 87 (76%) found the consultation informative. On average, the women rated heredity and diet as lower risk factors (P < 0.05) after the consultation than before. Heredity, stress and the environment were thought to be more decisive than diet, smoking and alcohol. 34 patients who seemed unlikely to have a genetic risk in the consultant's opinion thought heredity to be less relevant (P < 0.05) after the consultation than before. At the time of the survey, cancer patients accounted for at least half of the consultees attending oncogenetic clinics in France. They need to have the clinical specificities of their disease and its medical management explained. They attend mainly for their offspring's sake, whereas healthy clients attend for their own sake.

Attitude to Health↗
PubMed2001

Occupational cancer genetics: infrequent ras oncogenes point mutations in lung cancer samples from chromate workers.

BACKGROUND: Chromium carcinogenicity and mutagenicity are no longer disputed. However, although chromium has various genetic effects that induce cancer, its mechanism of inducing lung cancer in humans is still not fully understood. p53, a tumor suppressor gene, was found to be infrequently mutated in samples of lung cancer in workers with long occupational exposure to chromium, suggesting other cancer-related genes to be targeted in such tumors. METHODS: To assess the contribution of the ras oncogenes in the pathogenesis of chromate-related lung cancer, we studied point mutations at the critical positions of codons 12, 13, and 61 of the Ha-ras and Ki-ras oncogenes in 38 lung cancer samples derived from Japanese patients who worked in the chromate industry for long periods. We used both radioactive isotope and non-radioisotope PCR-SSCP techniques. RESULTS: The results of this study demonstrated that activation of ras genes due to point mutations in chromate-related lung cancer is a rare event. CONCLUSIONS: Ras oncogenes activated by point mutations do not have a major role in the process of tumorigenesis of chromate-related lung cancer.

Adult↗
PubMed2004

Cancer genetics in primary care.

The cloning of two major breast cancer susceptibility genes, BRCA1 and BRCA2, in 1994 and 1995 and the subsequent development of commercial genetic testing has brought hereditary cancer genetics into the public eye. In addition to DNA-based genetic testing, new strategies and treatments have been developed to provide accurate assessment of cancer risk and to reduce the chances of cancer developing in the future. This increasing scientific and public attention has prompted some cancer patients and their families to find out whether they "have the cancer gene" and has placed more responsibility on primary care clinicians to identify people who should be referred for specialized services of hereditary cancer genetics.

Adenomatous Polyposis Coli↗
PubMedDate not supplied

Cancer genetics and women's health.

It is now known that all cancer is genetic in origin. Although most cancer occurs by chance, approximately 5% of individuals inherit specific genetic mutations that predispose them to cancer. The genetic characteristics of some cancers are known. Such information can be useful to health care providers in the clinical setting for treatment, early detection, and prevention. This article reviews basic carcinogenesis as well as genetic syndromes that predispose women to breast, ovarian, colorectal, and endometrial cancer. Knowledge of hereditary cancer syndromes and familiarity with them will assist the advanced practice nurse in the management of patients who are at risk. Cancer continues to contribute substantially to the mortality of women in all age groups. Knowledge of these syndromes provides an excellent opportunity to decrease mortality by early detection and prevention.

Breast Neoplasms↗
PubMedDate not supplied

Time elapsing from cancer diagnosis and anxiety in women attending cancer genetic clinics.

The aim of this study was to investigate the effects of cancer genetic consultations on feelings of anxiety in women with breast/ovarian cancer. Among the 138 women attending six French clinics during a one-year period, 115 (83.3%) answered pre- and post-consultation questionnaires. The state anxiety score (Spielberger's STAI) was lower (paired t-test, p<0.001) after the consultation (34.7 9.4) than before (38.8 10.5). The time elapsing since cancer diagnosis (r=-0.28, p=0.007) was the main predictor of the decrease in anxiety. The patients consulting earlier after their cancer was diagnosed were more anxious before the consultation than those consulting later: whereas their anxiety states after the consultation were similar. The consultation effectively decreased the anxiety observed and the anxiety felt by cancer patients before the consultation may constitute an anticipatory stress response that should be investigated.

Anxiety↗
PubMed2000

Combined analysis of hereditary prostate cancer linkage to 1q24-25: results from 772 hereditary prostate cancer families from the International Consortium for Prostate Cancer Genetics.

A previous linkage study provided evidence for a prostate cancer-susceptibility locus at 1q24-25. Subsequent reports in additional collections of families have yielded conflicting results. In addition, evidence for locus heterogeneity has been provided by the identification of other putative hereditary prostate cancer loci on Xq27-28, 1q42-43, and 1p36. The present study describes a combined analysis for six markers in the 1q24-25 region in 772 families affected by hereditary prostate cancer and ascertained by the members of the International Consortium for Prostate Cancer Genetics (ICPCG) from North America, Australia, Finland, Norway, Sweden, and the United Kingdom. Overall, there was some evidence for linkage, with a peak parametric multipoint LOD score assuming heterogeneity (HLOD) of 1.40 (P=.01) at D1S212. The estimated proportion of families (alpha) linked to the locus was.06 (1-LOD support interval.01-.12). This evidence was not observed by a nonparametric approach, presumably because of the extensive heterogeneity. Further parametric analysis revealed a significant effect of the presence of male-to-male disease transmission within the families. In the subset of 491 such families, the peak HLOD was 2.56 (P=.0006) and alpha =.11 (1-LOD support interval.04-.19), compared with HLODs of 0 in the remaining 281 families. Within the families with male-to-male disease transmission, alpha increased with the early mean age at diagnosis (<65 years, alpha =.19, with 1-LOD support interval.06-.34) and the number of affected family members (five or more family members, alpha =.15, with 1-LOD support interval.04-.28). The highest value of alpha was observed for the 48 families that met all three criteria (peak HLOD = 2.25, P=.001, alpha=.29, with 1-LOD support interval.08-.53). These results support the finding of a prostate cancer-susceptibility gene linked to 1q24-25, albeit in a defined subset of prostate cancer families. Although HPC1 accounts for only a small proportion of all families affected by hereditary prostate cancer, it appears to play a more prominent role in the subset of families with several members affected at an early age and with male-to-male disease transmission.

Age of Onset↗
PubMed1997

Recommendations for follow-up care of individuals with an inherited predisposition to cancer. I. Hereditary nonpolyposis colon cancer. Cancer Genetics Studies Consortium.

OBJECTIVE: To provide recommendations for cancer surveillance and risk reduction for individuals carrying mutations associated with hereditary nonpolyposis colon cancer (HNPCC). PARTICIPANTS: A task force with expertise in medical genetics, oncology, primary care, gastroenterology, and epidemiology convened by the Cancer Genetics Studies Consortium (CGSC), organized by the National Human Genome Research Institute (previously the National Center for Human Genome Research). EVIDENCE: Studies evaluating cancer risk, surveillance, and risk reduction in individuals genetically susceptible to colon cancer were identified using MEDLINE and bibliographies of articles thus identified. Indexing terms used were "genetics" in combination with "colon cancer," and "screening" in combination with "cancer family" and "HNPCC." For studies evaluating specific interventions, quality of evidence was assessed using criteria of the US Preventive Services Task Force. CONSENSUS PROCESS: The task force developed recommendations through discussions over a 14-month period. CONCLUSIONS: Efficacy of cancer surveillance or other measures to reduce risk in individuals who carry cancer-predisposing mutations is unknown. Based on observational studies, colonoscopy every 1 to 3 years starting at age 25 years is recommended for individuals known to have HNPCC-associated mutations. Endometrial cancer screening is also recommended, based on expert opinion concerning presumptive benefit. No recommendation is made for or against prophylactic surgery (ie, colectomy, hysterectomy); these surgeries are an option for mutation carriers, but evidence of benefit is lacking. It is recommended that individuals considering genetic testing be counseled regarding the unknown efficacy of measures to reduce risk and that care for individuals with cancer-predisposing mutations be provided whenever possible within the context of research protocols designed to evaluate clinical outcomes.

Adaptor Proteins, Signal Transducing↗
PubMed1997

Psychological issues in cancer genetics.

OBJECTIVES: To review the behavioral research that addresses the impact of hereditary cancer on the family and the psychological aspects of choosing whether or not to undergo susceptibility testing. DATA SOURCES: Scientific articles and book chapters in the professional literature pertaining to the psychological aspects of cancer genetics and susceptibility testing. CONCLUSIONS: Susceptibility gene testing for a variety of rare hereditary cancer syndromes and familial cancers will offer new options and challenges to members of cancer families. IMPLICATIONS FOR NURSING PRACTICE: Oncology nurses will be involved in the identification of hereditary cancer families at risk assessment and counseling, the offer of susceptibility testing to those who may benefit, and the provision of follow-up support and referral.

Family↗
PubMed2000

Breast cancer: genetics, risks, and strategies.

Breast cancer is the most common cause of cancer among women, with 175,000 new cases diagnosed in 1999. The recent discovery of inherited mutations on the BRCA1 and BRCA2 genes and related research has increased our understanding of key risk factors. After identifying those who are at risk, health care providers must counsel women regarding appropriate prevention and early detection strategies. This article reviews the influence of genetics on breast cancer, identifies risk factors, discusses risk factor analysis, and suggests strategies for prevention and early detection of breast cancer.

Adult↗
PubMed2004

Legal and ethical issues in cancer genetics nursing.

OBJECTIVES: This article will set forth major interests at stake for patients considering predictive genetic testing, some legal bases for protecting patients, and general ethical principles that can guide cancer genetic nurses in their practice. DATA SOURCES: Review of health, ethical, and legal literature CONCLUSION: There are many potential interests at stake for patients considering genetic testing for susceptibility to cancer and a number of legal protections for patients against genetic discrimination. Nurses and physicians who offer genetic testing should be aware of applicable laws in their states, and remain cognizant of evolving ethical principles that can guide the practice IMPLICATIONS FOR NURSING PRACTICE: Ethical and legal questions surrounding genetic testing linger--particularly for nurses and physicians whose primary concern is the best interests of the patient.

Confidentiality↗
PubMed2005

How to establish a high-risk cancer genetics clinic: limitations and successes.

The development of technology to locate and isolate cancer susceptibility genes has brought together the fields of oncology, cancer control, genetics, and genetic counseling to create a new specialty of cancer risk counseling with the goal to communicate more accurate information about personal cancer risk profiles based on personal and family histories. As cancer risk assessment and counseling services become standard of care in medical practice, their availability is increasingly moving from comprehensive cancer centers and academic institutions to community settings. High-risk cancer genetics clinics in the community face several challenges, including staffing, time commitment, costs, and unique quality control issues. The societal benefits include a more educated public armed with the information needed to make health decisions appropriate for the individual level of risk.

Female↗
PubMed1997

Educational issues related to cancer genetics.

OBJECTIVES: To discuss educational issues facing the nurse and to review opportunities for genetic education. DATA SOURCES: Published articles pertaining to cancer genetics and nursing. CONCLUSIONS: Health care providers are experiencing significant changes in their professional lives. Not only is the environment where services are provided changing, but the need for consumers to be knowledgeable and the expectations of care providers are enhanced. One significant challenge is the genetic discoveries influencing available health care. Educational preparation is crucial to the application of genetic technology in practice, research, and management of all patients. IMPLICATIONS FOR PRACTICE: The science and technology of genetics offers tremendous potential change for health care delivery. This in turn requires knowledgeable nurses to provide total patient care through the integration of genetic information. Determination of preferred methods, content, access, and evaluation is the focus of genetic educational issues.

Computer Communication Networks↗
PubMed2004

Estimating the survival benefits gained from providing national cancer genetic services to women with a family history of breast cancer.

The aim of this paper is to compare a service offering genetic testing and presymptomatic surveillance to women at increased risk of developing breast cancer with its predecessor of no service at all in terms of survival and quality-adjusted survival (QALYs) by means of a Markov cohort chain simulation model. Genetic assessment and presymptomatic care provided between 0.07-1.61 mean additional life years and 0.05-1.67 mean QALYs over no services. Prophylactic surgery and surveillance extended mean life expectancy by 0.41-1.61 and 0.32-0.99 years, respectively over no services for high-risk women. Model outcomes were sensitive to all the parameters varied in the sensitivity analysis. Providing cancer genetic services increase survival and as long as services do not induce adverse psychological effects they also provide more QALYs. The greatest survival and QALY benefits were found for women with identified mutations. As more cancer genes are identified, the survival and cost-effectiveness of genetic services will improve. Although mastectomy provided most additional life years, when quality of life was accounted for oophorectomy was the optimal strategy. Delayed entry into coordinated genetic services was found to diminish the average survival and QALY gains for a woman utilising these services.

Adult↗
PubMed2006

Human cancer genetics.

The short report will be focused on the genetic basis and possible mechanisms of tumorigenesis, common types of cancer, the importance of genetic diagnosis of cancer, and the methodology of cancer genetic diagnosis. They will also review presymptomatic testing of hereditary cancers, and the application of expression profiling to identify patients likely to benefit from particular therapeutic approaches.

Genes, Tumor Suppressor↗
PubMed1997

Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2. Cancer Genetics Studies Consortium.

OBJECTIVE: To provide recommendations for cancer surveillance and risk reduction for individuals carrying mutations in the BRCA1 or BRCA2 genes. PARTICIPANTS: A task force with expertise in medical genetics, oncology, primary care, gastroenterology, and epidemiology convened by the Cancer Genetics Studies Consortium (CGSC), organized by National Human Genome Research Institute (previously the National Center for Human Genome Research). EVIDENCE: Studies evaluating cancer risk, surveillance, and risk reduction in individuals genetically susceptible to breast and ovarian cancer were identified using MEDLINE (National Library of Medicine) and from bibliographies of articles thus identified. Indexing terms used were "genetics" in combination with "breast cancer," "ovarian cancer," and "screening," or "surveillance" in combination with "cancer family" and "BRCA1" and "BRCA2." For studies evaluating specific interventions, quality of evidence was assessed using criteria of the US Preventive Services Task Force. CONSENSUS PROCESS: The task force developed recommendations through discussions over a 14-month period. CONCLUSIONS: Efficacy of cancer surveillance or other measures to reduce risk in individuals who carry cancer-predisposing mutations is unknown. Based on expert opinion concerning presumptive benefit, early breast cancer and ovarian cancer screening are recommended for individuals with BRCA1 mutations and early breast cancer screening for those with BRCA2 mutations. No recommendation is made for or against prophylactic surgery (eg, mastectomy, oophorectomy); these surgeries are an option for mutation carriers, but evidence of benefit is lacking, and case reports have documented the occurrence of cancer following prophylactic surgery. It is recommended that individuals considering genetic testing be counseled regarding the unknown efficacy of measures to reduce risk and that care for individuals with cancer-predisposing mutations be provided whenever possible within the context of research protocols designed to evaluate clinical outcomes.

Antineoplastic Agents, Hormonal↗
PubMed2004

Familial risk of cancer: data for clinical counseling and cancer genetics.

Familial risks for cancer are important for clinical counseling and understanding cancer etiology. Medically verified data on familial risks have not been available for all types of cancer. The nationwide Swedish Family-Cancer Database includes all Swedes born in 1932 and later (0-to 68-year-old offspring) with their parents, totaling over 10.2 million individuals. Cancer cases were retrieved from the Swedish Cancer Registry up to year 2000. Standardized incidence ratios (SIR) and 95% confidence limits (CI) were calculated for age-specific familial risk in offspring by an exact proband status. The familial risks for offspring cancer were increased at 24/25 sites from concordant cancer in only the parent, at 20/21 sites from a sibling proband and at 12/12 sites from a parent and sibling proband. The highest SIRs by parent were for Hodgkin's disease (4.88) and testicular (4.26), non-medullary thyroid (3.26), ovarian (3.15) and esophageal (3.14) cancer and for multiple myeloma (3.33). When a sibling was affected, even prostate, renal, squamous cell skin, endocrine, gastric and lung cancer and leukemia showed SIRs in excess of 3.00. The highest cumulative risks were found for familial breast (5.5%) and prostate (4.2%) cancers. We identified reliable familial risks for 24 common neoplasms, most of which lack guidelines for clinical counseling or action level. If, for example, a familial SIR of 2.2 would be use as an action level, counseling would be needed for most cancers at some diagnostic age groups. The present data provide the basis for clinical counseling.

Adolescent↗
PubMed2006

Genome-wide linkage scan for prostate cancer aggressiveness loci using families from the University of Michigan Prostate Cancer Genetics Project.

BACKGROUND: Prostate cancer (PC) is a complex disease that displays variable disease outcome, ranging from a relatively indolent disease to forms that result in death from the disease. One measure of disease severity is the Gleason score. Using the Gleason score as a measure of tumor aggressiveness, several independent genome scans have reported evidence of linkage. As of yet, however, no genes have been implicated. METHODS: We report an independent genome scan using the Gleason score as a quantitative trait. We genotyped 405 highly polymorphic microsatellite markers in 175 brother pairs from 103 families. RESULTS: Our strongest evidence of linkage is to 6q23 at 137 cM (D6S292, P = 0.0009). Other interesting regions (P < 0.005) were on chromosome 1p13-q21 and on chromosome 5p13-q11. CONCLUSIONS: Our results provide further evidence that tumor aggressiveness has a genetic component, and that this genetic component may be influenced by several independent genes.

Aged↗