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PubMed2006

Surgical implications of colorectal cancer genetics.

The applications of genetics in colorectal cancer are not limited to identifying germ-line mutations in genetically predisposed individuals. Reports on the use of molecular genetic markers as prognostic factors and for assessing the response to therapy are common in the literature. As the primary caregiver in the majority of these cases, the surgeon needs a basic knowledge of colorectal genetics and their implications to the patient and the patient's family. This article discusses a practical approach for some of the issues likely to be encountered by the surgeon.

Adenomatous Polyposis Coli↗
PubMed2004

Cancer genetics services: a systematic review of the economic evidence and issues.

This paper systematically reviews the published economic research upon cancer genetics services for families at risk of having familial breast, ovarian or colorectal cancer. A structured search was made of 15 electronic databases. The search identified 1030 papers, of which 31 fulfilled the inclusion criteria, two were cost-benefit studies, five were cost consequences, four were cost-effectiveness studies, one was a cost analysis, two were cost-minimisation studies, one was a cost-utility study, 10 modelled life years and six were reviews. Modelling studies indicate that surveillance, prophylactic and chemoprevention techniques extend survival for carriers of identified mutations. Genetic testing has been estimated to cost 70-2400 USD [48-1591 UK pounds] and genetic counselling 129-800 USD [89-551 UK pounds]. The technology of genetic testing has been found to be cost effective. Cost effectiveness was particularly influenced by targeting genetic services for patients with a strong family history of cancer rather than screening the entire population. Future economic evaluation must go beyond merely assessing health outcomes and mutation identification, and account for the impact of genetic services upon the individual, the family and society, establish the value of services to these groups and determine the most effective ways of delivering genetic services.

Breast Neoplasms↗
PubMed2006

Experience of parental cancer in childhood is a risk factor for psychological distress during genetic cancer susceptibility testing.

BACKGROUND: This study explores the effect of age at the time of parental cancer diagnosis or death on psychological distress and cancer risk perception in individuals undergoing genetic testing for a specific cancer susceptibility. PATIENTS AND METHODS: Cancer-related distress, worry and risk perception were assessed in 271 applicants for genetic testing of an identified mutation in BRCA1/2 (BReast CAncer) or a HNPCC (Hereditary Nonpolyposis Colorectal Cancer) related gene before, one week after, and six months after genetic test disclosure. The course of distress and risk perception were compared between individuals having witnessed parental cancer or loss due to cancer in childhood, adolescence, adulthood and having unaffected parents. RESULTS: Individuals with parental cancer in childhood (under age 13) reported the highest level of cancer related distress, worry and risk perception. Women having their mother affected by breast cancer in puberty (aged 10-13 years) perceived higher breast cancer risks than women with an affected mother in adulthood or without an affected mother. Individuals with an affected parent perceived cancer risks as higher than individuals without an affected parent, but were not more distressed. CONCLUSIONS: Experience of parental cancer in childhood is a risk factor for psychological distress during the genetic testing process.

Adolescent↗
PubMed2005

A pilot study of spatial patterns in referrals to a multicentre cancer genetics service.

OBJECTIVES: To analyse spatial and temporal patterns in patients referred to a cancer genetics service in order to monitor service utilization and accessibility. METHODS: Postcodes of patients during a 4-year period were used to examine spatial patterns using a Geographical Information System (GIS). Referral rates were compared visually and statistically to explore yearly variation for administrative areas in Wales. RESULTS: There has been a four-fold increase in actual referrals to the service over the period of study. The variance between unitary authority referral rates has decreased from the inception of the service from an almost ten-fold difference between lowest and highest in year 1 to less than a three-fold difference in year 4. CONCLUSIONS: This study shows the potential of GIS to highlight spatial variations in referral rates across Wales. Although the disparity in referral rates has decreased, trends in referral rates are not consistent. Ongoing research will examine those referral and referrer characteristics affecting uptake.

Feasibility Studies↗
PubMed2003

Risk communication strategies: state of the art and effectiveness in the context of cancer genetic services.

The objective of this paper is first to describe the different strategies used to communicate risks to patients in the field of cancer or genetics, to review their effectiveness, and to summarise the state of the art of this practice in particular, in cancer genetics. The target audience is health care professionals involved in the communication of cancer risks, and genetic risks of breast/ovarian or colorectal cancer in particular. The methods include a review of the literature (Medline, Pascal, PsycInfo, Embase) by a panel of researchers and clinicians (cancer geneticists, epidemiologists, health psychologists, sociologists) in the context of a European Project on risk communication. We highlight practices that have been shown to be effective in the context of health psychology research and those being still under consideration for use in routine practice. In conclusion, this paper adds clinical relevance to the research evidence. We propose specific steps that could be integrated in standard clinical practice based on current evidence for their usefulness/effectiveness.

Breast Neoplasms↗
PubMed2004

[Cancer genetic counseling as it pertains to gynaecologic oncology: general considerations in hereditary tumors].

One of the most remarkable discoveries during the last two decades is that cancer is a genetic disease, which develops in a stepwise fashion including many gene mutations. The nature of hereditary tumours has also been elucidated, with recognised inherited germline gene mutations predisposing cancer development. These are called cancer susceptibility gene mutations and mostly involve tumour suppressor genes, occasionally oncogenes, genes of the apoptosis pathway and DNA repair. As a result, cancer genetic counselling centres have been established with the objectives of identifying persons at high-risk for cancer development. In addition, activities of these centres may involve applied genetics, mostly in research setting. The major steps in cancer genetic counselling in terms of hereditary tumours include: 1. identifying at risk patients, e.g. gene mutation carriers, 2. proper counselling with full information regarding the benefits and disadvantages of DNA testing, and 3. preventive measures including screening, early detection and prophylactic surgery, drug treatment etc. In this review, the natural history and clinical characteristics of hereditary tumours are outlined, as well as, the major considerations of cancer genetic counselling are discussed.

Adaptation, Psychological↗
PubMed2006

Risk communication in completed series of breast cancer genetic counseling visits.

PURPOSE: There is no consensus on how best to communicate risk in breast cancer genetic counseling. We studied risk communication in completed series of counseling visits and assessed associations with counselees' postcounseling risk perception and satisfaction. METHODS: Pre- and postcounseling questionnaires and videorecordings of all visits were available for 51 affected and unaffected women from families with no known BRCA1/2 mutation, who fulfilled criteria for DNA testing. We developed a checklist for assessing risk communication and counselors' behaviors. RESULTS: General risks were mainly communicated in initial visits, while counselee-specific risks were discussed mainly in concluding visits. The risks discussed most often were conveyed only numerically or qualitatively, and most were only stated positively or negatively. Counselors regularly helped counselees to understand the information, but seldom built on counselees' pre-existing perspective. Counselees' breast cancer risk perception after counseling was unrelated to whether this risk had been explicitly stated. The number of general risks discussed was negatively associated with counselees' satisfaction about counseling. CONCLUSION: Findings suggest that counselors' authority prevails over mutuality with individual counselees, in their communication about risks.

Adolescent↗
PubMed2005

Communication in cancer genetic counselling: does it reflect counselees' previsit needs and preferences?

This study sought to describe counsellor-counselee interaction during initial cancer genetic counselling consultations and to examine whether the communication reflects counselees' previsit needs. A total of 130 consecutive counselees, referred mainly for breast or colon cancer, completed a questionnaire before their first appointment at a genetic clinic. Their visit was videotaped. Counselee and counsellor verbal communications were analysed and initiative to discuss 11 genetics-specific conversational topics was assessed. The content of the visit appeared relatively standard. Overall, counselees had a stronger psychosocial focus than counsellors. Counsellors directed the communication more and initiated the discussion of most of the topics assessed. Counselees did not appear to communicate readily in a manner that reflected their previsit needs. Counsellors provided more psychosocial information to counselees in higher need for emotional support, yet did not enquire more about counselees' specific concerns. New counselees may be helped by receiving more information on the counselling procedure prior to their visit, and may be advised to prepare the visit more thoroughly so as to help them verbalise more their queries during the visit.

Adolescent↗
PubMed2006

Applying a cognitive behavioral model of health anxiety in a cancer genetics service.

A cognitive-behavioral model of health anxiety was used to investigate reactions to genetic counseling for cancer. Participants (N = 218) were asked to complete a questionnaire beforehand and 6 months later. There was an overall decrease in levels of cancer-related anxiety, although 24% of participants showed increased cancer-related anxiety at follow-up. People who had a general tendency to worry about their health reported more cancer-related anxiety than those who did not at both time points. This health-anxious group also showed a postcounseling anxiety reduction, whereas the others showed no significant change. Participants with breast or ovarian cancer in their family were more anxious than participants with colon cancer in their family. Preexisting beliefs were significant predictors of anxiety, consistent with a cognitive-behavioral approach.

Adult↗
PubMed2005

[Cancer genetic predisposition: current events and perspectives 2005].

Studies performed during these last twenty years have had a major impact on the understanding of carcinogenesis. They have opened a new field : cancer genetic predisposition. At the present time, most of the cancer predispositions linked to the alteration of one gene, associated with a high risk of cancer and with a specific phenotype have been identified. About 40 genes have been identified and have led to genetic testing. The indication of genetic testing, the management of at risk patients need the establishment of guidelines. The next challenge is the identification of cancer predisposing genes associated with low risk or modifying the effect of treatment.

Female↗
PubMed2006

Ethical issues in cancer genetics: I 1) whose information is it?

This article presents and discusses four clinical cases that exemplify the complexity of ethical dilemmas concerning the provider's obligation to disclose or withhold genetic information from patients. Case 1: What is the responsibility of the cancer genetics provider to ensure that a positive test results is shared with distant relatives? Case 2: To ensure that results go to at-risk relatives, do we have the right to ignore the wishes of the designated next-of-kin? Case 3: Do we have the right to reveal a familial BRCA1 mutation to a patient's relative, who is at 50% risk? Case 4: Do we have an obligation to reveal that a patient is not a blood relative and therefore, not at risk to have inherited a familial mutation? These cases form the basis for discussing the provider's dual obligations to keeping patient confidentiality and informing patients and families about risk (i.e. duty to warn). We also provide a summary of consensus points and additional discussion questions for each case.

Adaptor Proteins, Signal Transducing↗
PubMed2001

Cancer genetics: from Boveri and Mendel to microarrays.

The human genome has now been sequenced, a century after the re-discovery of Mendel's Laws, and the publication of Theodor Boveri's chromosomal theory of heredity. Tracing the historical landmarks of cancer genetics from these early days to the present time not only gives us an appreciation of how far we have come, but also emphasizes the challenges that we face if we are to unravel the genetic basis of hereditary and sporadic cancers in the next century.

Animals↗
PubMedDate not supplied

Breast and ovarian cancer genetics and prevention.

Inherited breast and ovarian cancers account for 10% of all breast and ovarian cancers. Relative to sporadic breast and ovarian cancers, these cancers tend to occur at an earlier age and grow more aggressively. Women with BRCA1 and BRCA2 mutations (BRCA1/2 mutation) have a 65% to 85% cumulative lifetime risk of developing invasive breast cancer and a 15% to 65% cumulative lifetime risk of developing invasive ovarian cancer. Identification of patients with the mutation is therefore crucial, because preventive measures such as prophylactic bilateral mastectomy, prophylactic bilateral salpingpo-oophorectomy and chemoprevention with Tamoxifen can prevent breast and ovarian cancer. Likewise, genetic counseling prior to testing is important, considering the major impact of the test results on an individual's life.

Ataxia Telangiectasia↗
PubMed2006

Uptake rates for breast cancer genetic testing: a systematic review.

PURPOSE: Individuals and families dealing with the possibility of hereditary cancer risk face numerous decisions, including whether to obtain genetic testing. The purpose of this article is to determine what is known about the rate at which people obtain cancer genetic testing. METHODS: Using MEDLINE, CINAHL, and PSYCHINFO plus reviewing reference lists of relevant articles, we identified 40 studies in May 2002 that addressed breast cancer-related decisions, enrolled adult participants, were published in 1990 or more recently, were peer-reviewed primary clinical studies, addressed genetic testing either alone or in combination with genetic counseling, and reported rates at which participants showed interest in and/or underwent cancer genetic testing. Information regarding study design, participants, and genetic testing uptake rates was recorded. Each article was reviewed for methodologic quality using a flexible quality review system applicable to all study types. RESULTS: Of the 40 studies, 25 provided information about hypothetical genetic testing decisions, 14 about real decisions, and 1 about both. Mean hypothetical uptake was 66% (range, 20-96%) and real uptake was 59% (range, 25-96%). Multivariate logistic regression analyses found that decision type (real/hypothetical), personal and family history of breast cancer, and variability in sampling strategy, recruitment setting, and criteria for real and hypothetical uptake were independently associated with uptake. Our systematic review identified additional explanations for uptake variability (investigator influences, small sample sizes, variability in target populations, lack of clearly described sampling strategies, sampling methods open to bias, and variability in reporting associated risk factors). CONCLUSION: In addition to clinical characteristics, research methodologic issues are likely to be major determinants of variability in published breast cancer genetic testing uptake rates. An understanding of these issues will clarify to clinicians why their clinical experience may not be congruent with published rates and help guide future research.

Adult↗
PubMed1995

Breast Cancer Genetics: Relevance to Oncology Practice.

Our knowledge of genetic mechanisms involved in cancer initiation, promotion, and progression recently has expanded. In order to benefit from this expansion and to apply genetic discoveries to current protocols for prevention, screening, diagnosis, treatment, prognosis, and monitoring for minimal residual disease, a working knowledge must be developed of the genetic principles, oncogenes, tumor suppressor genes, and genetic models of carcinogenesis. Genetic susceptibility testing for cancer soon will be introduced into oncology practice through established familial risk counseling programs, and the oncologist must be prepared to address the medical, ethical, legal, economic, psychological, and social issues that accompany this testing.

Journal Article↗
PubMedDate not supplied

Breast cancer genetics: family history, heterogeneity, molecular genetic diagnosis, and genetic counselling.

Between 5% and 10% of breast cancer cases can be traced to primary genetic factors. Before the discovery of the BRCA1 and BRCA2 genes, if a first-degree relative in direct genetic lineage had hereditary breast cancer or hereditary breast-ovarian cancer syndrome, the best estimate of family members' genetic risk for breast cancer was 50%. Now the lifetime cancer destiny of a patient who carries a BRCA1 or BRCA2 germ line mutation can be determined with an extraordinary degree of precision. However, a major concern facing clinicians is how to use this powerful genetic knowledge without harming the patient. This presentation focuses on the need for (a) compilation of a detailed family history of cancer of all anatomic sites; (b) understanding of the natural history of hereditary breast cancer and its heterogeneous forms and the pathobiology of hereditary breast cancer; and (c) preparation for performance of genetic counseling that is based on the results of DNA sequencing to detect genes related to cancer susceptibility. The discussion addresses the advantages of this molecular genetic movement, which include the abilities (a) to predict who is and who is not at inordinately high risk for cancer; (b) to provide opportunities for highly targeted disease surveillance and management; (c) to give patients the information they need to make appropriate long-term decisions about matters such as procreation; and (d) to give genetic counselors the information they need to appreciate the emotions patients may encounter, such as fear, anxiety, and apprehension, and the ordeal of being subjected to discrimination by insurance companies and employers.

Adult↗
PubMed2005

'The edge effect': an exploratory study of some factors affecting referrals to cancer genetic services in rural Wales.

This exploratory study examines the role of rurality in referrals from primary care to the Cancer Genetics Service for Wales (CGSW) through a case study of referrals from Montgomeryshire, a predominantly rural area in mid-Wales located adjacent to the English border. Awareness of CGSW amongst practitioners is low. We found that rurality plays a role in referral behaviour as distance, time travelling and accessibility by car and public transport are all perceived to have an impact on the patient's decision to attend a clinic appointment. Some patients are being referred outside Wales as ease of access to services is considered more important than distance.

Awareness↗