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At least 109 records · Page 6Linked to original sources
PubMed2006

Cancer genetic testing and assisted reproduction.

PURPOSE: Because of increasing uptake of cancer genetic testing and the improving survival of young patients with cancer, health care practitioners including oncologists will increasingly be asked about options for assisted reproduction by members of families affected by hereditary cancer syndromes. Among these reproductive options, preimplantation genetic diagnosis (PGD) offers the opportunity to select embryos without familial cancer-predisposing mutations. METHODS: A review of the published literature supplemented by a survey of PGD centers in the United States. RESULTS: Prenatal diagnosis and/or embryo selection after genetic testing has already been performed in the context of more than a dozen familial cancer syndromes, including the common syndromes of genetic predisposition to colon and breast cancer. CONCLUSION: While constituting new reproductive options for families affected by cancer, the medical indications and ethical acceptance of assisted reproductive technologies for adult-onset cancer predisposition syndromes remain to be defined. Continued discussion of the role of PGD in the reproductive setting is needed to inform the responsible use of these technologies to decrease the burden of heritable cancers.

Breast Neoplasms↗
PubMed2003

Primary care physicians' attitudes and practices regarding cancer genetics: a comparison of 2001 with 1996 survey results.

BACKGROUND: To determine whether Texas primary care physicians' attitudes and practices regarding cancer genetics changed over a five-year period, a follow-up survey was conducted and the results obtained in 1996 were compared with those obtained in 2001. METHODS: A survey was mailed in 2001 to a random sample of 350 primary care physicians in Texas. RESULTS: More primary care physicians in 2001 were discussing the subject of genetic screening with their patients and more physicians were referring their patients for genetic evaluations and testing for cancer risk, compared with 1996. Cost of genetic testing continues to be the most frequently cited barrier to using genetic testing for cancer susceptibility. CONCLUSION: Results suggest a continuing need for more educational programs for physicians regarding genetic testing for cancer susceptibility.

Attitude of Health Personnel↗
PubMedDate not supplied

Molecular biology and colorectal cancer: genetic alterations, inherited syndromes, and applications to colon cancer screening.

Molecular genetics has rapidly advanced our understanding of pathogenesis and biologic behavior of colorectal carcinoma. This article will review the genetic changes which occur in colonic mucosa as it progresses from benign to malignant as well as review the inherited forms of colorectal cancer. Current screening methods and anticipated future strategies for colorectal cancer screening will be discussed.

Colorectal Neoplasms↗
PubMed2002

The Mouse Tumor Biology Database: a public resource for cancer genetics and pathology of the mouse.

Developing genetic mouse models for cancer research has been recognized as an "exceptional opportunity" by the National Cancer Institute. The establishment of bioinformatics resources to facilitate access to published and unpublished data on the genetics and pathology of cancer in different strains of the laboratory mouse is critical to developing and using mouse models of human disease. In this article, we review the Mouse Tumor Biology Database (MTB), a public resource for information on cancer genetics, epidemiology, and pathology in genetically defined mice. We outline current content, data acquisition strategies, and query mechanisms for MTB. MTB is accessible on-line at http://tumor.informatics.jax.org.

Animals↗
PubMed2004

Referral for cancer genetics consultation: a review and compilation of risk assessment criteria.

BACKGROUND: There have been many papers on the diagnostic criteria for specific hereditary cancer susceptibility syndromes and the likelihood that an individual has a germline mutation in one of the various cancer susceptibility genes. To assist health care professionals in deciding when a cancer genetics consultation is appropriate, available reports were critically reviewed in order to develop a single set of risk assessment criteria. METHODS: The criteria were based on a comprehensive review of publications describing diagnostic criteria for hereditary cancer syndromes and risk to first degree relatives of cancer patients. Priority was given to diagnostic criteria from consensus statements (for example, those from the National Comprehensive Cancer Network). Expert opinion from study personnel was then used to adopt a single set of criteria from other publications whenever guidelines differed. RESULTS: Based on family history, a set of criteria was developed to identify patients at risk for a hereditary cancer susceptibility syndrome, patients with moderate risk who might benefit from increased cancer surveillance, and patients who are at average risk. The criteria were applied to 4360 individuals who provided their cancer family history between July 1999 and April 2002, using a touch screen computer system in the lobby of a comprehensive cancer centre. They categorised an acceptable number of users into each risk level: 14.9% high risk, 13.7% moderate risk, and 59.6% average risk; 11.8% provided insufficient information for risk assessment. CONCLUSIONS: These criteria should improve ease of referral and promote consistency across centres when evaluating patients for referral to cancer genetics specialists.

Female↗
PubMed1999

Colorectal cancer: genetics and screening.

Colorectal cancer is a common disease in the Western world. Most, if not all, colorectal cancers develop from previously benign adenomas. There are a number of genetic abnormalities including mutations in oncogenes and tumor suppressor genes which either present as a germline, or acquired defects lead to the development of colorectal cancer. Two well-defined hereditary colorectal cancer syndromes exist, hereditary nonpolyposis colorectal cancer syndrome and familial adenomatous polyposis coli, for which genetic testing is possible and advised. Guidelines for screening for colorectal cancer in average, moderate, and high risk patients are available from the American Cancer Society and were updated in 1997. The American Society of Clinical Oncology has published guidelines for genetic testing in a variety of cancers including colorectal cancer.

Colorectal Neoplasms↗
PubMed2003

A randomised controlled trial of breast cancer genetics services in South East Scotland: psychological impact.

This study compared the psychological impact of two models of breast cancer genetics services in South East Scotland. One hundred and seventy general practices were randomised to refer patients to the existing standard regional service or the novel community-based service. Participants completed postal questionnaires at baseline (n=373), 4 weeks (n=276) and 6 months (n=263) to assess perceived risk of breast cancer, subjective and objective understanding of genetics and screening issues, general psychological distress, cancer worry and health behaviours. For participants in both arms of the trial, there were improvements in subjective and objective understanding up to 4 weeks which were generally sustained up to 6 months. However, improvements in subjective understanding for the women at low risk of breast cancer (i.e. not at significantly increased risk) in the standard service arm did not reach statistical significance. Cancer worry was significantly reduced at 6 months for participants in both arms of the trial. The two models of cancer genetics services tested were generally comparable in terms of the participants' psychological outcomes. Therefore, decisions regarding the implementation of the novel community-based service should be based on the resources required and client satisfaction with the service.

Adolescent↗
PubMed1998

[Clinics for counseling on cancer genetics. Experiences with genetic studies and counseling on familial breast cancer and colorectal cancer].

Five to ten percent of cases of breast cancer and colorectal cancer are familial. These families can be divided into high-risk families and moderate-risk families. Cancer in high-risk families can often be explained by dominant inheritance of a gene causing increased susceptibility to cancer. There is a great demand for genetic counseling in these families, and the structure of and experiences from a familial cancer clinic at Odense University Hospital is described. The establishment of a familial cancer clinic involves three steps: 1) Identification of families with increased cancer susceptibility; 2) Molecular tests to identify gene carriers; 3) Clinical examinations for early detection of tumors. Achievement of these three steps requires the involvement of several medical specialties to ensure patient care. Experience with familial cancer clinics is still limited and the involvement of genetic testing and clinical examination programs at risk individuals are insufficiently examined. The rapidly improving techniques for genetic testing make it urgent that it is implemented as part of already established clinical programs.

Adult↗
PubMed2004

Racial differences in enrolment in a cancer genetics registry.

BACKGROUND: Lower enrolment of minorities into research studies has been reported frequently. Most studies have little information about nonparticipants, making it difficult to identify characteristics associated with enrolment and how they might vary by race. METHODS: Women who had previously participated in a population-based, case-control study of breast cancer in North Carolina were invited to enroll in a cancer genetics registry. Detailed questionnaire data on sociodemographic characteristics and cancer risk factors were available for all women. We compared characteristics of women who agreed to be in the registry with those who were deceased, were unlocatable, or declined enrolment. Unconditional logistic regression analyses were done to identify predictors of enrolment. RESULTS: Enrolment rates were markedly lower among African Americans than Whites (15% and 36%, respectively) due to both lower contact rates (41% versus 63%) and lower enrolment rates among those contacted (37% versus 58%). Logistic regression models suggested that racial differences in enrolment were not due to socioeconomic characteristics or other cancer risk factors; race was the only significant predictor of enrolment in multivariable models (odds ratio 0.41, 95% confidence interval 0.23-0.72). CONCLUSIONS: Although all women had previously taken part in a research study, African American women were less likely to enroll in the cancer genetics registry than White women. A possible explanation of these findings is that studies of genetics may present particular concerns for African Americans. Further research is needed to identify attitudes and issues that present barriers to participation among minorities.

Adult↗
PubMed2000

Cancer genetics nursing: impact of the double helix.

PURPOSE/OBJECTIVES: To describe the impact of genetic information on oncology nursing practice and to identify roles for oncology nurses in the field of cancer genetics. DATA SOURCES: Published articles, abstracts, books, and clinical experience. DATA SYNTHESIS: Oncology nurses in all areas of practice are affected by the recent explosion of genetic information. The identification of genetic mutations associated with increased risk for certain cancers and subsequent development of cancer predisposition testing have created a tremendous need for health care professionals who can explain and interpret genetic information. CONCLUSIONS: Oncology nurses already have many basic skills essential in the management of genetic information. An area in which oncology nurses may have the most to offer is in helping patients who carry a genetic predisposition to cancer understand the cancer surveillance and risk-management options available to them. Oncology nurses will be on the forefront in helping patients understand what this information means to them and how to apply it to their lives. IMPLICATIONS FOR NURSING PRACTICE: As we enter the 21st century, the advances in genetic information and the impact of the Human Genome Project will change oncology nursing as we know it. Oncology nurses will be expected to assess and interpret genetic and nongenetic cancer risk as an integrated whole, including genetic risk factors, environmental and lifestyle risk factors, and the interaction of the two. The challenge will be to make this complex information meaningful to patients as they make choices to manage their own cancer risk.

DNA, Neoplasm↗
PubMed2002

Development of a cancer genetics education program for clinicians.

BACKGROUND: There is a gap in knowledge about hereditary cancer and genetic testing among primary care practitioners. Education is needed to enable identification and management of patients at high risk for cancer. METHODS: A new cancer genetics curriculum was delivered through individual lectures and full-day conferences. Innovative marketing and conference organizational approaches were used to increase participation. RESULTS: The curriculum has been delivered to 7,400 health care professionals with diverse educational backgrounds. CONCLUSION: Conventional formats were successfully used to implement this new curriculum. CME evaluations indicated satisfaction with the programs and a clear need for and continued interest in cancer genetics applications.

Curriculum↗
PubMed2000

Medicolegal and ethical issues in genetic cancer syndromes.

Physicians whose patients may be affected by genetic cancer syndromes must be sensitive to a range of legal and ethical concerns. We provide an overview of the major issues, focusing on developments in the United States. The first section examines the physician's legal and ethical duties to the patient. A number of general rules are advanced, including: 1) genetic counseling should be offered to those considering genetic testing; 2) a genetic test should not be performed without the patient's informed consent; and 3) genetic information should not be disclosed to third parties without the patient's written authorization. Laws addressing genetic testing and disclosure of information are reviewed, as well as laws addressing genetic discrimination. Physicians must be aware that the availability of legal protections may affect a patient's willingness to undergo testing. Next, we examine the physician's duty to the patient's family. Where a conflict exists between the interests of the patient and the interests of family members, ethics and current law favor the interests of the patient, absent unusual circumstances. Further, we provide guidance on the scope of the physician's duty to inform, e.g., whether the physician must inform the patient of all medically reasonable treatment options, including those with which the physician disagrees. Finally, we discuss the special ethical and legal issues that prophylactic surgery raises. Areas covered include informed consent and insurance coverage. Several recent cases involving these issues are reviewed.

Confidentiality↗
PubMed2006

Clinical implications of our advancing knowledge of colorectal cancer genetics: inherited syndromes, prognosis, prevention, screening and therapeutics.

Recent genetic advances in our knowledge of colorectal cancer genetics are beginning to pay translational dividends in the management of this common clinical problem. We are now able to accurately screen and counsel individuals at risk of rare inherited cancer syndromes. We have recently introduced two of what are sure to be numerous biologic-based therapies, and have shown that colorectal neoplasia risk can be modestly reduced by various chemopreventative agents. Finally, our advancing knowledge has led to significant inroads into understanding what genetic alterations define prognosis and predict response to specific chemotherapeutic agents, and we are beginning to explore the utility of this knowledge in mass genetic-based clinical screening efforts. Enthusiasm must be tempered, however, by the extraordinary cost that often accompanies relatively modest gains. Finally, although genetic-based therapy often receives the greatest attention, molecular genetics, will likely have the greatest cost-effective impact in primary prevention and early diagnosis.

Adenomatous Polyposis Coli↗
PubMedDate not supplied

Familial cancer: genetically determined? (review).

Many cancers, in both children and adults, cluster in families. Collection and statistical analysis of pedigree data suggest that genetic mechanisms play an important role in most cancer types. This is illustrated in colorectal, breast, lung, ovarian, and childhood cancer. Pedigree data are consistent with the hypothesis that cancer is sometimes inherited in an autosomal dominant Mendelian fashion. These rare hereditary cancers might not be different pathogenetically from those arising sporadically. A two-stage model for carcinogenesis provides a framework for the understanding of both forms of cancer. The establishment of registries for familial cancer would be most helpful for cancer risk determinations, surveillance and management programs, identification of new cancer-prone genotypes and etiological family studies.

Breast Neoplasms↗
PubMed2006

Pooled genome linkage scan of aggressive prostate cancer: results from the International Consortium for Prostate Cancer Genetics.

While it is widely appreciated that prostate cancers vary substantially in their propensity to progress to a life-threatening stage, the molecular events responsible for this progression have not been identified. Understanding these molecular mechanisms could provide important prognostic information relevant to more effective clinical management of this heterogeneous cancer. Hence, through genetic linkage analyses, we examined the hypothesis that the tendency to develop aggressive prostate cancer may have an important genetic component. Starting with 1,233 familial prostate cancer families with genome scan data available from the International Consortium for Prostate Cancer Genetics, we selected those that had at least three members with the phenotype of clinically aggressive prostate cancer, as defined by either high tumor grade and/or stage, resulting in 166 pedigrees (13%). Genome-wide linkage data were then pooled to perform a combined linkage analysis for these families. Linkage signals reaching a suggestive level of significance were found on chromosomes 6p22.3 (LOD = 3.0), 11q14.1-14.3 (LOD = 2.4), and 20p11.21-q11.21 (LOD = 2.5). For chromosome 11, stronger evidence of linkage (LOD = 3.3) was observed among pedigrees with an average at diagnosis of 65 years or younger. Other chromosomes that showed evidence for heterogeneity in linkage across strata were chromosome 7, with the strongest linkage signal among pedigrees without male-to-male disease transmission (7q21.11, LOD = 4.1), and chromosome 21, with the strongest linkage signal among pedigrees that had African American ancestry (21q22.13-22.3; LOD = 3.2). Our findings suggest several regions that may contain genes which, when mutated, predispose men to develop a more aggressive prostate cancer phenotype. This provides a basis for attempts to identify these genes, with potential clinical utility for men with aggressive prostate cancer and their relatives.

Black or African American↗
PubMed2003

What motivates interest in attending a familial cancer genetics clinic?

The motivation of people who seek advice about a family history of cancer was explored in a cross sectional study of new cancer referrals to five regional cancer genetics centres in England: the PACT (patient and clinical team) psychosocial study. One hundred sixty-two people took part. Measures were source of referral, estimated and perceived cancer risk, level of cancer worry, and personal and family-centred reasons for wanting to be seen in clinic. General practitioners referred more people than hospital doctors, and referred a larger proportion of people at low genetic risk of developing cancer. More than half of the participants had been the first to raise the issue of their family history of cancer. Personal motivation for referral is clearly different for those who have had a diagnosis of cancer and for those with children, compared to unaffected and childless people, and is characterised by altruistic concern for other family members rather than a perception of increased personal risk. Men and people from ethnic minorities are very significantly under-represented. Understanding people's motivation may be useful in targeting genetic counselling for people with a family history of cancer.

Adult↗