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PubMed2004

Analysing spatial trends in referral patterns to cancer genetics services: a preliminary investigation of regional variations in Wales.

This paper discusses spatial trends in referral patterns to a cancer genetics service. It presents a literature review outlining the paucity of existing research, a preliminary analysis at the Unitary Authority level in Wales and advances a programme of further research to be conducted at a more detailed spatial level. The preliminary analysis shows a weak negative relationship between referral rates from primary care and social deprivation by Unitary Authority (Spearman rank correlation coefficient, sigma = -0.38). There is also a weak positive relationship between average settlement size and referral rates (sigma = +0.28), which taken together may indicate that primary care practices in affluent urban areas are more likely to refer than those in poorer rural areas. Future research will be conducted at a finer spatial scale, and will take into account characteristics of primary care practices and the patients being referred, amongst other variables.

Humans↗
PubMed1998

Marker segregation information in breast/ovarian cancer genetic counseling: is it still useful? Groupe Génétique et Cancer de la Fédération Nationale des Centres de Lutte Contre le Cancer.

The use of mutation screening of BRCA1 and BRCA2 genes as a genetic test is still to a certain extent limited and the oncogeneticist may want to use complementary approaches to identify at-risk individuals. In a series of 23 families with at least three breast or ovarian cancer cases, screened for mutations at BRCA1 and BRCA2 and typed for markers at both loci, we investigated the usefulness of marker segregation information at two levels: 1) to what extent can the indirect approach identify the mutation carrier status of screened cases and their first-degree relatives, and 2) in what way does it help to identify the gene implicated in a family in which neither BRCA1 nor BRCA2 mutation has been detected? Using the indirect approach, the carrier status of the screened case could be determined with quasi certainty in three families and with a high probability in eight families. This status could be inferred in unaffected first-degree relatives as almost certain in one family and as highly probable in six families. Fourteen mutations were found concurrently in our series. Among the nine mutation-negative families, we were able to conclude that a BRCA1 mutation most probably segregated in one and that a mutation other than BRCA1 and BRCA2 was probably involved in two families. Our results show that, in small families, little help is to be expected from linkage data and mutation screening is the only way of identifying the origin of a genetic predisposition in a family. Marker segregation information may be useful in some large breast/ovarian cancer families in which no BRCA1 or BRCA2 mutation has been detected.

BRCA1 Protein↗
PubMed2004

Attitudes and beliefs concerning prostate cancer genetic screening.

This quantitative study determines the values, beliefs, and attitudes influencing the intention of men to undergo or defer genetic testing for prostate cancer risk using a model based on components of the Theory of Reasoned Action and Health Belief Model. Telephone interviews of a community sample of 400 men in a large, East Coast metropolitan area of diverse educational, ethnic, and age backgrounds were conducted to rank key values and beliefs about genetic testing for prostate cancer risk in anticipation of its future availability. Descriptive statistics, univariate analyses, and logistic regression were used in data analysis. The factors of values attached to consequences, motivation from self, beliefs in benefits, and a motivation to comply with others (borderline) were statistically significant for testing intention. Of all demographics, only increased education was associated with diminished interest in testing. Desire to be tested varied widely across groups of men. Based on these identified values, health professionals can better understand men's values and beliefs on the risks and benefits of testing. The relationship of men to others, family and society, require further investigation in this and other aspects of genetic testing.

Adult↗
PubMed1995

Breast cancer genetic screening and critical bioethics' gaze.

This paper illustrates a role that bioethics should play in developing and criticizing protocols for breast cancer genetic screening. It demonstrates how a critical bioethics, using approaches and reflecting concerns of contemporary philosophy of science and science studies, may critically interrogate the normative and conceptual schemes within which ethical considerations about such screening protocols are framed. By exploring various factors that influence the development of such protocols, including politics, cultural norms, and conceptions of disease, this paper and the critical bioethics' approach it endorses illuminate and critically assess some of the competing worldviews informing protocol development. One of the frequently neglected worldviews in traditional bioethics' treatment of protocols concerning breast care is constituted by women's own views of their breasts and breast cancer, both within the technologically-oriented social practice of American medicine and in light of the social construction of their breasted experience in American society. This paper attempts to redress and critically assess this neglect on the part of traditional bioethics. Finally, in contrast to traditional bioethics, critical bioethics critically interrogates its own normative and conceptual commitments. In this final capacity, a critical bioethics' approach makes a valuable contribution to the evolution of bioethics.

Biomedical Research↗
PubMed2005

Initial cancer genetic counseling consultation: change in counselees' cognitions and anxiety, and association with addressing their needs and preferences.

The fulfillment of counselees' expectations in cancer genetic counseling and how this affects the outcome of counseling have received little attention so far. This study investigates how the initial consultation influences counselees' cognitions and anxiety, whether counselors address counselees' prior needs and preferences during the visit, and whether addressing needs is associated with a more positive outcome of the visit. One hundred twenty-eight affected and unaffected counselees from families with no known mutation, who were seen by one of fourteen counselors, participated. Pre- and post-visit questionnaires assessed correct knowledge about hereditary breast or colon cancer, perceived personal control (PPC), anxiety (STAI), risk perceptions, and (fulfillment of) needs (QUOTE-gene(ca)). Results demonstrated a pre- to post-visit significant increase in correct knowledge and PPC, and a significant decrease in STAI and risk perceptions. However, marked overestimation of risks persisted. Decrease in STAI and risk perceptions was significantly less pronounced in affected versus unaffected counselees. The majority of counselees were (very) satisfied about the extent to which their needs were addressed, albeit about one-fifth were not regarding emotional matters and explanations about their own cancer risk. Finally, the better counselees perceived their needs to be fulfilled, the significantly higher their PPC and the significantly lower their STAi scores were. Findings suggest that both unaffected and affected counselees should be counseled carefully. Also, a more effective service may be attained if counselors pay more attention to counselees' emotional needs and detail more inheritance and penetrance of mutated genes in relation to counselees' family history.

Adolescent↗
PubMed2004

Recent developments in ovarian cancer genetics.

PURPOSE OF REVIEW: This review attempts to provide an update on recent research on inherited susceptibility to ovarian cancer. It covers articles mainly published in 2002 and 2003, with an emphasis on genetic counseling issues. RECENT FINDINGS: The major areas on which recent reports have focused include: (1) an expanded understanding of the BRCA1 and BRCA2 mutation spectrum and the frequencies of deleterious alleles in various ethnic groups; (2) investigations on how information is best transmitted to high-risk family members via genetic counseling; (3) an analysis of patient management changes based on genotype results; (4) social issues surrounding predictive testing for breast/ovarian cancer genes, including health insurance and discrimination concerns; and (5) an investigation into gynecologists' knowledge of ovarian cancer genetics, and their ability to provide genetic counseling for ovarian cancer to their patients. Preliminary reports from scientific meetings that have not yet been published in peer-reviewed journals are also discussed. SUMMARY: Recent developments in ovarian cancer genetics expand many of the areas that have been studied previously. A major focus of recent research has dealt with genetic counseling for families affected by hereditary breast and ovarian cancer.

BRCA1 Protein↗
PubMed2026

Double heterozygous germline pathogenic variants in patients referred to a tertiary cancer genetics clinic in Singapore.

BACKGROUND: The increasing use of multigene panel testing has led to a rise in the identification of double heterozygous (DH) pathogenic variants in cancer patients, although their frequency and clinical relevance remain poorly characterised, particularly in Asian populations. METHODS: We conducted a retrospective review of 5,178 patients referred to a tertiary cancer genetics clinic in Singapore. DH pathogenic variants were defined as the presence of two or more distinct pathogenic or likely pathogenic germline variants identified by multigene panel testing. Clinical, pathological, and family history data were reviewed and analysed using appropriate non-parametric and exact statistical methods. RESULTS: Among 2,802 index patients with available genetic test results, 593 (21.2%) carried at least one pathogenic/likely pathogenic variant. DH pathogenic variants were identified in 21 individuals (0.75%), of which 9 were patients with breast cancer, 10 with non-breast malignancies, and 2 were cancer-free. The frequency of multiple primary cancers was 26.3% in DH variant carriers, 23.3% in single variant carriers, and 16.5% in those with no pathogenic variants. The median ages of first cancer diagnosis were 47, 44, and 48 years. Several DH combinations involved moderate- or low-penetrance genes, and some clinically unsuspected variants were detected only through broad multigene testing. CONCLUSION: DH pathogenic variants represent a rare subgroup that is increasingly detected through multigene panel testing. Their phenotypic expression is variable, and the influence of additional pathogenic variants remains uncertain. Our findings emphasise the need for tailored genetic evaluation and further research to guide evidence-based management for this complex patient population.

Asia↗
PubMed2005

Tailoring communication in cancer genetic counseling through individual video-supported feedback: a controlled pretest-posttest design.

OBJECTIVES: To assess the influence of a 1-day individual video-feedback training for cancer genetic counselors on the interaction during initial visits. Feedback was intended to help counselors make counselees' needs more explicit and increase counselors' sensitivity to these. METHODS: In total 158 counselees, mainly referred for breast or colon cancer and visiting 1 of 10 counselors, received a pre- and post-visit questionnaire assessing needs (fulfillment). Visits were videotaped, counselor eye gaze was assessed, and verbal communication was analyzed by Roter Interaction Analysis System (RIAS) adapted to the genetic setting. Halfway the study, five counselors were trained. RESULTS: Trained counselors provided more psychosocial information, and with trained counselors emotional consequences of DNA-testing was more often discussed. Counselees seen by a trained counselor considered their need for explanations on (emotional) consequences of counseling as better fulfilled. Unexpectedly, counselees' contribution to the interaction was smaller with trained counselors. CONCLUSION: Feedback appeared to result in greater emphasis on psychosocial issues, without lengthening the visit. However, counselors did not become more verbally supportive in other ways than by providing information. PRACTICE IMPLICATIONS: A 1 day individual training appears effective to some extend; increased opportunities for watching and practicing behavioral alternatives and arranging consolidating sessions may improve training results.

Adult↗
PubMed2006

Exploring cancer genetics and care of the family: an evolving challenge for palliative care.

There is a growing scientific understanding and increasing public awareness of the influence of genetics on the development of cancer. This article, which is based on a review of the literature, focuses on how the awareness of genetic predisposition to cancer is affecting patients and their families. It highlights the way that risk assessment for predisposition to cancer can conflict with traditional models of informed consent and can cause concern for families. It suggests that there is need for informed discussion within palliative care about how best to support families with concerns about a family history of cancer.

Family↗
PubMed1995

Epidermodysplasia verruciformis as a model of human papillomavirus-induced genetic cancer of the skin.

BACKGROUND: Epidermodysplasia verruciformis is a rare lifelong disease that has raised an enormous interest since it is a model of cutaneous genetic cancer induced by specific human papillomaviruses. OBSERVATIONS: The interacting immunogenetic and environmental factors, especially UV irradiation, result in the inability of the patients' immune system to respond to epidermodysplasia verruciformis-specific human papillomaviruses. The local immunosuppression is an effect, at least in part, of the overproduction of tumor necrosis factor alpha and transforming growth factor beta1 and of the excessive formation of cis-urocanic acid. CONCLUSIONS: Epidermodysplasia verruciformis is a model not only of cutaneous viral oncogenesis but also of local defense mechanisms in the progression of human papillomavirus-associated cancers.

Epidermodysplasia Verruciformis↗
PubMed2005

A combined genomewide linkage scan of 1,233 families for prostate cancer-susceptibility genes conducted by the international consortium for prostate cancer genetics.

Evidence of the existence of major prostate cancer (PC)-susceptibility genes has been provided by multiple segregation analyses. Although genomewide screens have been performed in over a dozen independent studies, few chromosomal regions have been consistently identified as regions of interest. One of the major difficulties is genetic heterogeneity, possibly due to multiple, incompletely penetrant PC-susceptibility genes. In this study, we explored two approaches to overcome this difficulty, in an analysis of a large number of families with PC in the International Consortium for Prostate Cancer Genetics (ICPCG). One approach was to combine linkage data from a total of 1,233 families to increase the statistical power for detecting linkage. Using parametric (dominant and recessive) and nonparametric analyses, we identified five regions with "suggestive" linkage (LOD score >1.86): 5q12, 8p21, 15q11, 17q21, and 22q12. The second approach was to focus on subsets of families that are more likely to segregate highly penetrant mutations, including families with large numbers of affected individuals or early age at diagnosis. Stronger evidence of linkage in several regions was identified, including a "significant" linkage at 22q12, with a LOD score of 3.57, and five suggestive linkages (1q25, 8q13, 13q14, 16p13, and 17q21) in 269 families with at least five affected members. In addition, four additional suggestive linkages (3p24, 5q35, 11q22, and Xq12) were found in 606 families with mean age at diagnosis of < or = 65 years. Although it is difficult to determine the true statistical significance of these findings, a conservative interpretation of these results would be that if major PC-susceptibility genes do exist, they are most likely located in the regions generating suggestive or significant linkage signals in this large study.

Aged↗
PubMed2002

Cancer genetics and their application to individualised medicine.

One of the great challenges of basic research is to translate scientific discoveries into the improved treatment of patients. For colorectal cancer, our increased understanding of the molecular aetiology of the disease has not yet been paralleled by an improvement in patient care. However, several new approaches are on the verge of clinical implementation. Technical advances such as real-time polymerase chain reaction (PCR) and microarray techniques coupled to insight in the molecular pathways in colorectal cancer makes it possible to develop new clinical tools for the diagnosis, classification and treatment of patients. The ultimate goal of the incorporation of cancer genetics into the clinical treatment of patients is individualised medicine; therapeutic strategies based on the molecular taxonomy of tumours and individually constructed for each patient.

Adenomatous Polyposis Coli↗
PubMed2003

Decisional consideration of hereditary colon cancer genetic test results among Hong Kong chinese adults.

This study investigated the relationship between psychosocial factors and the decisional consideration of genetic testing of hereditary colon cancer. Attitudes and beliefs about genetic testing, anxiety and depression levels, coping style, and optimism were used as psychosocial independent variables. Sixty-two registrants (61% males and 39% females) of the Hereditary Gastrointestinal Cancer Registry of the Queen Mary Hospital in Hong Kong completed a mail survey. Mean age of the respondents was 42 years (SD = 9.92 years, range: 18-68 years). Correlational analyses and regression analyses were used to examine the relationships between the dependent and independent variables. Participants were concerned about the well-being and reactions of their significant others even more than their own well-being in their decisional consideration processes. Those who had higher perceived risks of being a mutated carrier and higher depression levels tended to emphasize more on the negative consequences of learning the test results and sharing them with relatives. Besides, those who believed that having cancer was attributable to personal (e.g., stress) rather than environmental factors considered that the negative consequences were relatively more important than the positive gains in sharing their results with relatives. Our participants tended to be relational or interdependent oriented in their decisional consideration processes related to genetic testing of colon cancer. This result is consistent with the established interdependent orientation of Chinese. Participants with higher risk perception focused more on the negative consequences of genetic testing. Psychological counseling might help these patients to cope with their concerns about being diagnosed as gene carriers after genetic testing.

Adaptation, Psychological↗
PubMed2005

The molecular pathology of hereditary breast cancer: genetic testing and therapeutic implications.

Cancer arising in carriers of mutations in the BRCA1 and BRCA2 genes differs from sporadic breast cancer of age-matched controls and from non-BRCA1/2 familial breast carcinomas in its morphological, immunophenotypic and molecular characteristics. Most BRCA1 carcinomas have the basal cell phenotype, a subtype of high-grade, highly proliferating, estrogen receptor- and HER2-negative breast carcinomas, characterized by the expression of basal or myoepithelial markers such as basal keratins, P-cadherin, epidermal growth factor receptor, etc. This phenotype is rarely found in BRCA2 carcinomas, which are of higher grade than sporadic age-matched controls, but tend to be estrogen receptor- and progesterone receptor-positive. The expression of the cell-cycle proteins cyclins A, B1 and E and SKP2 is associated with a BRCA1 phenotype, whereas cyclin D1 and p27 expression is associated with BRCA2 carcinomas. Recent studies have shown that hereditary carcinomas that are not attributable to BRCA1/2 mutations have phenotypic similarities to BRCA2 tumors, but tend to be of lower grade and proliferation index. Somatic mutations in the BRCA genes are rarely found in hereditary tumors; by contrast, BRCA1 and BRCA2 loss of heterozygosity (LOH) is found in almost all BRCA1 and BRCA2 carcinomas, respectively. Furthermore, all types of hereditary breast carcinomas have a low frequency of HER2 expression. Finally, comparative genomic hybridization studies have revealed differences in chromosomal gains and losses between genotypes. The pathological and molecular features of hereditary breast cancer can drive specific treatments and influence the process of mutation screening. In addition, detecting molecular changes such as BRCA1/2 LOH in nonatypical cells obtained by random fine-needle aspiration, ductal lavage or nipple aspirate fluid may help to earlier identify carrier women who are at an even higher risk of developing breast carcinoma.

BRCA1 Protein↗
PubMed2004

Breast cancer genetics: unsolved questions and open perspectives in an expanding clinical practice.

Breast cancer is the most common cause of cancer death in the United Kingdom, with a lifetime risk of one in nine in women. Only 5-10% of all cancers is thought to be due to strongly penetrant inherited predisposing genes, such as BRCA1 and BRCA2. However, other less penetrant genes, including some autosomal recessive genes, are likely to be of etiological importance in other families. This review addresses the current knowledge of breast cancer susceptibility genes and explores the possibilities for future developments. Features of tumor pathology, prognosis, and the scope for targeted treatments in mutation carriers are discussed, and the management of known carriers and those at increased risk for developing breast cancer are evaluated. Genetic testing for cancer susceptibility may become widely available in the future, and has important ethical and management implications.

Breast Neoplasms↗
PubMed1995

Prospects for cancer genetics.

A number of distinct strategies have been used over the past two decades to uncover the genes involved in tumorigenesis. Their use raises the questions of whether we will require novel approaches in order to continue the progress of cancer genetics. Retrovirus mediated transduction of proto-oncogenes and transfection of tumour associated oncogenes are both inefficient ways of uncovering oncogenes, each being encumbered by technical obstacles that limit their utility. Improvements in the gene transfer strategy may yield a host of new oncogenes. New cloning techniques may have a role here as well as in revealing the existence of genes that are amplified in tumour cell genomes. The major technique for uncovering novel tumour suppressor genes--detection of loss of heterozygosity--is also limited in its sensitivity to detecting genes that are lost in large numbers of tumours. The techniques for uncovering these genes through analysis of pedigrees in which mutant versions of these genes are passed through the germline are encumbered by issues of penetrance and the complexities associated with the inheritance of polygenic traits. In both instances, improvements in data acquisition and analysis will reveal tumour suppressor genes that have proved elusive until now. Over the next decade, we will learn much about how the defects in another apparatus--that responsible for the maintenance of genomic integrity--contribute to cancer susceptibility. Beyond these genes lie yet others about which we seem to know little at present--those that induce the last stages of cancer including invasiveness and metastasis. These will represent an entirely new cohort of genes to be uncovered over the next decade.

Cell Transformation, Neoplastic↗
PubMedDate not supplied

[Cancer genetic immunotherapy].

The concept of cancer immunotherapy and the resulting technical advances have evolved considerably during the last decade. However, cancer treatment by recombinant IL-2 or IFN-alpha still represents today the best therapeutic way for the treatment of renal carcinoma, melanoma and in some cases lymphoma. The immunotherapy approaches such as vaccination, gene and cellular therapy, have not yet demonstrated a sufficient clinical efficacy for the treatment of solid tumors. The goal of this review is to summarize the different approaches to cancer immunotherapy developed today. Specific approaches such as antigenic vaccination will be first described, then non-specific approaches such as gene transfer on the tumor site of immuno-stimulating genes will be discussed.

Cancer Vaccines↗
PubMed1979

Family history in an oncology clinic. Implications for cancer genetics.

Detailed family histories of cancer were solicited from 200 consecutively ascertained cancer patients undergoing treatment in an oncology clinic. Approximately 18% had two or more first-degree relatives with cancer of any anatomic site. In several cases, striking familial aggregations of cancer fulfilled more rigorous criteria for hereditary cancer syndromes, including early age at onset of generally late-occurring tumors, characteristic tumor patterns, vertical transmission, and collateral family lines similarly afflicted. Review of preexisting clinic charts demonstrated that, in most cases, the family history of cancer had been either omitted altogether, reported as negative despite substantial evidence to the contrary, or, if noted as positive, not pursued or acted on. Family history can be more successfully utilized in recognition of suggestive familial cancer aggregations, ultimate identification of hereditary cancer syndromes, and control of cancer in clinical practice.

Adolescent↗