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PubMed2001

[Genetics and cancer: fundamental and clinical aspects].

The twentieth century has witnessed the discovery of the various genetic alterations that drive a normal cell toward neoplasia. One the challenge of the near future concerns the diagnostic of these alterations and their correlation with clinical parameters such as response to therapy or survival. It will be important to define, for each patient, a specific profile of the various alterations in order to improve and personalize the therapy. It is also essential to understand the various mechanisms of these alterations in order to develop new diagnostic procedures. Furthermore, the relation between genotype and phenotype is not straightforward and can be influence by various parameters such as the localization of the mutation, alterations of other genes or the expression of modifiers genes.

Apoptosis↗
PubMed1995

Analysis of familial breast cancer in genetic analysis workshop 9: summary of findings.

As part of the 9th Genetic Analysis Workshop held in Val Morin, Quebec, October 16-18, 1994, four workshop participants analyzed a large breast cancer data set. This data set consisted of phenotype and genetic marker data on 3884 individuals in 214 families with at least four cases of breast cancer contributed by members of an international breast cancer consortium. Two of the four papers [Barrett and Rigby; Commenges; this issue] utilized variants of affected pair methods to assess linkage of breast/ovarian cancer to the 17q markers in the data set. The third paper by Bansal et al. used a Monte-Carlo approach to examine the question of intrafamilial clustering of breast and ovarian cancer. The last paper in the series [Leal and Ott] described a method of computing support intervals for risk estimates when there are uncertainties associated with the parameter estimates used to compute these risks.

Breast Neoplasms↗
PubMed2004

Psychosocial impact of breast/ovarian (BRCA1/2) cancer-predictive genetic testing in a UK multi-centre clinical cohort.

This multi-centre UK study assesses the impact of predictive testing for breast and ovarian cancer predisposition genes (BRCA1/2) in the clinical context. In the year following predictive testing, 261 adults (59 male) from nine UK genetics centres participated; 91 gene mutation carriers and 170 noncarriers. Self-report questionnaires were completed at baseline (pre-genetic testing) and 1, 4 and 12 months following the genetic test result. Men were assessed for general mental health (by general health questionnaire (GHQ)) and women for general mental health, cancer-related worry, intrusive and avoidant thoughts, perception of risk and risk management behaviour. Main comparisons were between female carriers and noncarriers on all measures and men and women for general mental health. Female noncarriers benefited psychologically, with significant reductions in cancer-related worry following testing (P<0.001). However, younger female carriers (<50 years) showed a rise in cancer-related worry 1 month post-testing (P<0.05). This returned to pre-testing baseline levels 12 months later, but worry remained significantly higher than noncarriers throughout (P<0.01). There were no significant differences in GHQ scores between males and females (both carriers and noncarriers) at any time point. Female carriers engaged in significantly more risk management strategies than noncarriers in the year following testing (e.g. mammograms; 92% carriers vs 30% noncarriers). In the 12 months post-testing, 28% carriers had bilateral risk-reducing mastectomy and 31% oophorectomy. Oophorectomy was confined to older (mean 41 yrs) women who already had children. However, worry about cancer was not assuaged by surgery following genetic testing, and this requires further investigation. In all, 20% of female carriers reported insurance problems. The data show persistent worry in younger female gene carriers and confirm changes in risk management consistent with carrier status. Men were not adversely affected by genetic testing in terms of their general mental health.

Adult↗
PubMed2006

[Cancer pharmacogenetics: study of genetically determined variations on cancer susceptibility due to xenobiotic exposure].

Pharmacogenetics is the study of genetically determined variations in the response to drugs and toxic agents, and their implications on disease. Recently, the discipline has acquired great relevancy due to the development of non-invasive molecular techniques that identify genetic variants in human beings. There is also a need to explain the individual differences in susceptibility to drug actions and disease risk. Genetic variants can modify the magnitude of a pharmacologic effect, toxicity threshold, secondary effects and drug interactions. There are approximately thirty families of drug-metabolizing enzymes with genetic variants that cause functional alterations and variations in pharmacologic activity. We summarize the general knowledge about genetic variants of biotransformation enzymes, their relationship with cancer risk and the role of ethnicity. Cancer pharmacogenetics is another promising and exciting research area that will explain why people with an almost identical group of genes, have a different susceptibility to cancer, whose etiology has genetic and environmental components.

Aryl Hydrocarbon Hydroxylases↗
PubMed2001

Genetic testing for colorectal carcinoma susceptibility: focus group responses of individuals with colorectal carcinoma and first-degree relatives.

BACKGROUND: Colorectal carcinoma (CRC) may be the most frequent form of hereditary cancer. Genetic counseling and testing for heritable CRC is a promising approach for reducing the high incidence and mortality rates associated with the disease. Patients with CRC or those with at least one family member with the disease are the most likely persons to request or be offered genetic testing in the clinical or research setting. Currently, however, little is known about the behavioral, psychosocial, ethical, legal, and economic outcomes of CRC genetic counseling and testing. METHODS: Eight focus group interviews, four for CRC patients (n = 28) and four for first-degree relatives (n = 33), were conducted to obtain insights into attitudes, beliefs, and informational needs about genetic testing for hereditary CRC. RESULTS: Focus group interviews revealed a general lack of knowledge about cancer genetics and genetic testing; worry about confidentiality issues; strong concern for family members, particularly children; and a need for primary care providers to be informed about these issues. Major perceived advantages of genetic testing included improving health-related decisions, guiding physicians in making recommendations for surveillance, and informing relatives about risk potential. Disadvantages included potential discrimination, adverse psychologic effects, and financial costs associated with testing. CONCLUSIONS: As knowledge and media coverage of genetics continue to expand, it becomes increasingly important to continue efforts on behalf of, and in partnership with, those individuals most affected by genetic testing for hereditary cancer syndromes. These findings provide data needed to develop and implement informational, educational, counseling, and research-oriented programs that are sensitive to individuals' concerns and preferences.

Adult↗
PubMed2003

Detection and analysis of apoptosis in breast and ovarian cancer subjects--genetic studies.

Apoptotic cell death plays a central role in the pathogenesis and disease progression of cancer as well as in the response to treatment. In the present work we investigated the association between the presence of apoptotic peripheral blood cells in breast and ovarian cancer progression. Apoptosis was analysed in blood cells of breast (n=82) and ovarian cancer patients (n=79). Blood samples from age matched healthy women served as control (n=70). The apoptotic peripheral blood cells were detected by agarose gel electrophoresis. The apoptotic cells were identified in 83% (68/82) of the breast cancers and in 65% of ovarian cancer patients (51/79). The number of positive samples was significantly higher among cancer samples than among control samples (p<0.05). Additionally, there were significant differences (p<0.05) in the presence of apoptosis between subgroups assigned to histological stage. The high frequency of apoptotic peripheral blood cells in breast and ovarian tumours suggests a potential role of apoptosis in cancer appearance and/or progression.

Adult↗
PubMed2003

Cancer drugs, genetic variation and the glutathione-S-transferase gene family.

The glutathione-S-transferase (GST) super family comprises multiple isozymes (Alpha, Mu, Pi, Omega, Theta, and Zeta) with compelling evidence of functional polymorphic variation. Over the last two decades, a significant body of data has accumulated linking aberrant expression of GST isozymes with the development and expression of resistance to cancer drugs. Clinical correlation studies show that genetic differences within the human GST isozymes may play a role in cancer susceptibility and treatment. The initial confusion was presented by the fact that not all drugs used to select for resistance were substrates for thioether bond catalysis by GSTs. However, recent evidence that certain GST isozymes possess the capacity to regulate mitogen activated protein kinases presents an alternative explanation. This dual functionality has contributed to the recent efforts to target GSTs with novel small molecule therapeutics. While the ultimate success of these attempts remains to be shown, at least one drug is in late-stage clinical testing. In addition, the concept of designing new drugs that might interfere with protein:protein interactions between GSTs and regulatory kinases provides a novel approach to identify new targets in the search for cancer therapeutics.

Antineoplastic Agents↗
PubMed1988

The molecular genetics of cancer: 1988.

Cancer has myriad causes, but many of these may act by damaging DNA. Both dominant and recessive forms of genetic damage have been found in human cancer cells. The damage is likely to play a role in tumorigenesis, and it can therefore form the basis for new approaches to the diagnosis, prognosis, and therapy of cancer.

Chromosome Aberrations↗
PubMed1996

[Hereditary predispositions to cancer: the genetic diagnosis in practice].

Genetic consultations allow to identify families in which an hereditary predisposition to cancer is transmitted. In most cases the gene involved can be studied leading to identification of families members carrying or not the mutation conferring the cancer risk. In this case, cancer risk is more accurately explained and measures, adjusted to the risk, were proposed for early screening of the disease. Capacities to characterize an inherited mutation of the susceptibility gene vary according to our knowledge of the gene, its structure, its function, the kind of mutation(s) and also, the available techniques. The purpose of this paper is to describe the most frequently used techniques for direct or indirect molecular diagnosis of cancer predisposition and to specify, for each of them, the situations where its use seem the fittest. The example of breast cancer hereditary predisposition, where multiple susceptibility genes were identified and other are still unknown, illustrates the various degree of diagnosis that can be proposed and the strategy techniques used according to the gene.

Breast Neoplasms↗
PubMed1999

The pathology of familial breast cancer: Clinical and genetic counselling implications of breast cancer pathology.

Approximately 5% of all breast cancers are due to one of the high-risk breast cancer genes BRCA1 and BRCA2, or possibly to a third or fourth moderate- to high-risk gene(s). A further proportion of cases arise in the presence of a less striking family history, with later average age at onset and lower penetrance: familial breast cancer. Bilaterality is a recognized feature of hereditary breast cancer. Cancers often present at an early age, with the contralateral risk high within 10 years. Proof that bilateral malignancies are separate primaries can be difficult histologically, however, especially within 3 years. The recent finding of specific pathological features related to BRCA1 and, to a lesser extent, BRCA2 mutations means that, in addition to bilaterality and family history, a pathological element can be entered into the risk calculation for the presence of BRCA1/BRCA2 mutations. This will facilitate the targeting of mutation testing to families in which a positive result is most likely, and may subsequently influence the clinical management of these families.

BRCA2 Protein↗
PubMed2006

The development of a distraction-based coping intervention for women waiting for genetic risk information: a phase 1 qualitative study.

This study explored the emotional and coping responses of women referred for cancer genetic risk assessment and the acceptability of a written distraction-based coping intervention. Fifteen women recently referred into the Cancer Genetics Service for Wales (CGSW) took part in a focus group study. The women were divided into two groups, each of which met twice. During the first session, each group discussed their psychological responses to the referral and how they coped with their worries. Women discussed the potential role of the intervention in minimising distress. Analysis of the transcripts revealed that most women welcomed the referral to CGSW and that it did not create distress. However, there was concern for family members and anxiety about subsequent stages of the assessment process. The intervention was considered appropriate and potentially effective.

Adaptation, Psychological↗
PubMed2002

Brassica, biotransformation and cancer risk: genetic polymorphisms alter the preventive effects of cruciferous vegetables.

The chemoprotective effect of cruciferous vegetables is due to their high glucosinolate content and the capacity of glucosinolate metabolites, such as isothiocyanates (ITC) and indoles, to modulate biotransformation enzyme systems (e.g., cytochromes P450 and conjugating enzymes). Data from molecular epidemiologic studies suggest that genetic and associated functional variations in biotransformation enzymes, particularly glutathione S-transferase (GST)M1 and GSTT1, which metabolize ITC, alter cancer risk in response to cruciferous vegetable exposure. Moreover, genetic polymorphisms in receptors and transcription factors that interact with these compounds may further contribute to variation in response to cruciferous vegetable intake. This review outlines the metabolism and mechanisms of action of cruciferous vegetable constituents, discusses the recent human studies testing effects of cruciferous vegetables on biotransformation systems and summarizes the epidemiologic and experimental evidence for an effect of genetic polymorphisms in these enzymes on response to cruciferous vegetable intake. Taken together, genetic differences in biotransformation enzymes and the factors that regulate them, as well as variation in glucosinolate content of cruciferous vegetables and the methods used to prepare these foods underscore the multiple layers of complexity that affect the study of gene-diet interactions and cancer risk in humans.

Biotransformation↗
PubMed2005

Prevalence of BRCA mutations and founder effect in high-risk Hispanic families.

UNLABELLED: Approximately 12% of the U.S. population is Hispanic, with the majority residing in urban centers such as Los Angeles. The prevalence of BRCA mutations among high-risk Hispanic families is unknown. METHODS: One hundred and ten unrelated probands of Hispanic origin, with a personal or family history of breast and/or ovarian cancer, presented for genetic cancer risk assessment, were enrolled in an Institutional Review Board-approved registry and underwent BRCA testing. Haplotype analyses were done if BRCA mutations were observed in two or more unrelated probands. RESULTS: Mean age at diagnosis was 37 years (range = 23-59) for the 89 (81%) probands with invasive breast cancer. Overall, 34 (30.9%) had deleterious mutations (25 in BRCA1, 9 in BRCA2), 25 (22.7%) had one or more unclassified variants, and 51 (46.4%) had negative results. The mean pretest mutation probability using the Couch model, Myriad model, and BRCAPro was 19.6% (range = 4-77%). The combined average mutation probability was 32.8% for carriers, 15.5% for noncarriers, and 12.9% for variant carriers (P < 0.0001). The most common deleterious mutation was 185delAG (4 of 34, 11.8%). The Hispanic 185delAG carrier families share the same haplotype from D17s1320 through BRCA1, as do two reference Ashkenazi Jewish families. Haplotype analyses of additional recurrent BRCA1 mutations [IVS5+1G>A (n=2),S955X (n = 3), R1443X (n = 3), and 2552delC (n = 2)] also suggest founder effects, with four of six mutations seen almost exclusively in families with Latin American/Caribbean or Spanish ancestry. CONCLUSION: This is the largest study to date of high-risk Hispanic families in the United States. Six recurrent mutations accounted for 47% (16 of 34) of the deleterious mutations in this cohort. The BRCA1185delAG mutation was prevalent (3.6%) in this clinic-based cohort of predominantly Mexican descent, and shared the Ashkenazi Jewish founder haplotype.

Adult↗