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PubMed2005

An intervention study of smoking cessation with feedback on genetic cancer susceptibility in Japan.

BACKGROUND: To evaluate whether feedback of genetic information regarding an L-myc polymorphism, identified as impacting on tobacco-related cancer risk, has an influence on smoking cessation, an intervention study was conducted. METHODS: We recruited smokers from first-visit outpatients at Aichi Cancer Center Hospital. Six hundred and seventeen participated and were allocated into two groups: the biomarker feedback group (BF) and the follow-up smoking status group (FS). The subjects were asked for their smoking status at enrolment and at 3- and 9-month follow-ups. BF subjects were notified about their L-myc genotype. RESULTS: The smoking cessation rate at 9-month follow-up was essentially the same for both BF and FS cases, at 18.8% and 17.0%, respectively (P = 0.798). However, a difference in the rate was evident with non-cancer subjects (12.7% and 8.4%, respectively, P = 0.237), especially in females (15.0% and 4.2%, respectively, P = 0.024). The non-cancer subjects informed of their genotype were more likely to quit smoking than the FS patients; particularly in those having a risky genotype, this was significant (odds ratio: 2.87, P = 0.003). Again it was most prominent in females. CONCLUSION: Feedback regarding an L-myc polymorphism did not impact on smoking cessation overall but appeared to benefit smokers without cancer. In addition, gender could affect the response to the feedback.

Adult↗

PubMed1997

Physician- and counselor-tailored hybrid computer interfaces for cancer genetics risk analysis software.

During development of the Strang Breast Cancer Risk Evaluator, different computer interfaces were designed, implemented and tested for useability by physicians and genetics counselors during a counseling session. The current BCRE 2.3 implements a hybrid interface, combining modern GUI (graphical user interface) windows, buttons, and menus with a linear, sequence-of-operations chronological progression reminiscent of interfaces prior to the GUI revolution. Although such hybrids are considered by many interface specialists inappropriate to modern broad-spectrum computer applications, vertical market applications, including this one, can capitalize on such hybridization effectively. The hybrid interface provides multiple visual cues and directions to the user as to the next appropriate action, thereby allowing a physician or counselor to concentrate his/her attention on the patient, returning his/her gaze to the screen at sporadic and widely spaced moments. Hybrid interfaces combine specific interface elements--such as triple-scale checkboxes, text and design metaphors, "next step" helper icons, color-coded content, and color and graphically tailored on-screen reports (all of which constitute GUI elements)--with a strictly linear data accrual, approval, calculation, storage and reporting progression (which sequence constitutes a pre-GUI interface design). A first-generation design is presented: a hybrid combining the visual efficiency of GUI-improved interfaces with the practical efficiencies of stream-lined and linear progressions.

Computer Graphics↗

PubMedDate not supplied

Bladder cancer--genetic overview.

BACKGROUND: This article review the serial genetic changes which are responsible to the initiation and progression of bladder cancer. Knowledge of the exact genetic alteration has a direct implication on the development of knew more sensitive and specific tool for an early diagnosis and better prognosis calculations. CONCLUSION: Bladder cancer develop and progress through a series of genetic alterations. Understanding of the genetic mechanisms which lead to malignant transformation gave rise to the development of various genetic mechanisms which lead to malignant transformation gave rise to the development of various genetic tools providing better ability of early detection and more accurate prognosis prediction.

Chromosome Aberrations↗

PubMedDate not supplied

[Etiopathogenic factors in colorectal cancer. Genetic and clinical features (first of 2 parts)].

INTRODUCTION: Colorectal Cancer (CRC) is the second cause of death in Spain, reaching the first place in non-smoking population. It is also the tumour with the greatest one-year incidence. The last few years some reduction in its incidence along with a greater 5-year average survival has been observed. PATHOGENESIS: Most CRCs develop from benign polyps. Vogelstein's hypothesis suggests an orderly progression from normal mucosa, to a small polyp, to a large polyp and finally to a CRC. In this progression transforming cells will be increasingly charged with molecular alterations. GENETIC FACTORS: 20% of CRCs have a genetic background although only a fourth of these are genetically based. The APC (or FAP) gene mutation is one of the earlier events that can be seen in tumour progression. When this mutation appears in the germ line it renders Familial Adenomatose Polyposis Syndrome (that evolves to CRC in a 100% of cases) or to the Gardner Syndrome (if it has extracolonic expressions). The p53 mutation is a late event in cellular transformation but it makes a rapid accumulation of mutations an easier process and it confers advantages for survival of the tumour cells. Mutations in the genes implicated in microsatellite instability are related to DNA error repair; their clinical correlates are the Lynch I and II syndromes. Other important genes related to CRC are DCC and ras. CLINICAL FACTORS: Inflammatory Bowel Disease (particularly Crohn's disease) is the most important clinical factor, it may enhance basal risk 30 times. Other risk factors are: previous malignant conditions, pelvic irradiation and previous surgery (cholecystectomy and ureterosigmoidostomy). The endocrinologic factors have a rising importance and so hormonal substitution therapy for menopause and multiparity can provide some protection. The use of NSAIDs can also be protective (specially COX-2 inhibitors). CONCLUSIONS: It is important that people who are identified as having a high risk for developing a CRC are subjected to a strict clinical and endoscopic follow-up in order to be able to identify an incipient tumour or to practice prophylactic surgery. The use of hormonal substitution therapy or anti COX-2 NSAIDs can be future useful chemoprophylactic agents.

Colorectal Neoplasms↗

PubMed2003

Breast cancer genetics in African Americans.

BACKGROUND: An overview of the state of genetic testing for BRCA1 and BRCA2 genes was presented at the Summit Meeting on Breast Cancer Among African American women. METHODS: An exhaustive literature search was performed using PubMed and abstracts published from meetings of the American Association for Cancer Research, the American Society of Human Genetics, and the American Society of Clinical Oncology. The Breast Cancer Information Core was also searched for information regarding sequence variants in which the ethnicity of the individual tested was known. RESULTS: Of the 26 distinct BRCA1 pathogenic mutations (protein-truncating, disease-associated missense, and splice variants) detected in Africans or African Americans, 15 (58%) have not been previously reported. In addition, 18 deleterious BRCA2 mutations have been identified and 10 (56%) of these are unique to the group. Only two pathogenic BRCA1 mutations (943ins10 and M1775R) have been detected in three or more unrelated families. However, seven additional BRCA1 or BRCA2 deleterious mutations have been reported in at least two unrelated families. Three of these recurrent BRCA1 mutations (943ins10, 1832del5, and 5296del4) have been characterized by haplotype studies and each likely arose from a common ancestor, including one ancestor that could be traced to the Ivory Coast in West Africa. Although only a few African-American families have been tested for BRCA1 and BRCA2 mutations, the probability of finding a mutation is invariably dependent on the age of onset and the number of breast and/or ovarian cancer cases in the family. The psychosocial implications of genetic testing for African Americans have not been well studied, so that high-risk African Americans may underestimate their risks of breast and ovarian cancer. CONCLUSIONS: Deleterious BRCA1 and BRCA2 mutations have been identified in African-American and African families. A number of unique mutations have been described, but recurrent mutations are widely dispersed and are not readily identifiable in the few families that have been tested. Access to genetic counseling and testing in a culturally sensitive research setting must remain a high priority before genetic testing can be disseminated in the community.

Black People↗

PubMed2003

Cancer genetics and drug discovery in the zebrafish.

Fish have a long history of use in cancer toxicology studies, because they develop neoplasms that are histologically similar to human cancers. Because of considerable progress in zebrafish genetics and genomics over the past few years, the zebrafish system has provided many useful tools for studying basic biological processes. These tools include forward genetic screens, transgenic models, specific gene disruptions and small-molecule screens. By combining carcinogenesis assays, genetic analyses and small-molecule screening techniques, the zebrafish is emerging as a powerful system for identifying novel cancer genes and for cancer drug discovery.

Animals↗

PubMed1990

Cancer models and cancer genetics.

There have been many attempts to develop stochastic multistage models for cancer. The models relate hypothesized biological processes occurring at the cellular level to the occurrence of tumors at the experimental or epidemiologic level of individuals in a population. The existing models fit a variety of data, but none is fully satisfactory and they are in some ways inconsistent with each other. Recently, substantial new data have become available on the nature of cancer-associated mutations observed directly at the cellular level. These data suggest that the number of stages may be greater and more variable among individual tumors of the same organ than has been thought. There may be many pathways to cancer, and the mutations responsible may not constitute a fixed set or sequence. This pattern resembles the genetics of quantitative rather than qualitative traits, and may also be consistent with the variable histology and behavior of tumors of a given organ. Simulations using such models suggest that cancer in the general population may have such heterogeneous etiology, a possibility that has important implications for screening, risk projection, and prevention. Risk-generating processes of a rather generic kind may generate similar hazard functions for diverse chronic diseases in the age ranges often used in epidemiologic studies. This phenomenon raises questions about the purpose and interpretation of statistical epidemiologic models.

Humans↗

PubMed2001

Genetic cancer syndromes and large-scale gene expression analysis: applications in surgical oncology.

The last decade of the 20th century was characterized by an explosion in genetic discoveries. The Human Genome Project and technical advances have made it possible to unravel many genetic abnormalities underlying cancer. Many genes responsible for inherited cancer syndromes have been identified and diagnostic tests are readily available. The clinical implications of these tests are currently under debate. Large-scale gene expression analysis enables simultaneous monitoring of expression of thousands of genes, in vitro and in vivo. The identification of high risk patients and drug responsiveness, can be studied within the framework of complex molecular networks. This article will focus on the possibilities for surgical oncology.

Breast Neoplasms↗

PubMed2026

Interpreting cancer genetics through a two-step "evolutionary cascade hypothesis": bridging neutral and selective perspectives.

BACKGROUND: DNA mutations are the fundamental engines of cancer, driving its initiation and progression. The forces that fuel malignancy are also the architects of evolution, shaping life through genetic variations. Mutations, in fact, can emerge naturally from endogenous processes, such as oxidative DNA damage or errors in replication, as well as induced by external factors, including cosmic radiation and chemical carcinogens. MAIN BODY: A key question in cancer research is whether tumor evolution is primarily governed by selective bottlenecks, neutral evolution, or dynamic genetic plasticity. In this work, we examine cancer as a disease driven by evolutionary processes rooted in fundamental biological requirements, including sustained proliferation and nutrient utilization. We hypothesize that the accumulation of mutations activates an evolutionary switch, enabling tumor cells to acquire an enhanced capacity for survival, adaptation, and growth at rates far exceeding typical evolutionary timescales. We propose the "evolutionary cascade hypothesis," a unifying framework that integrates these models into a coherent sequence. At its core lies the failure of DNA repair mechanisms, representing a critical transition in cancer progression. This shift marks the transition from an initial non-Darwinian, neutral phase to a Darwinian, more deterministic phase. CONCLUSIONS: As predictive models of tumor evolution advance through genomic big data and artificial intelligence-driven analysis, the future of cancer treatment may extend beyond targeting individual mutations to disrupting the underlying evolutionary mechanisms that sustain malignancy. This paradigm shift could redefine therapeutic strategies and ultimately improve patient outcomes.

Humans↗

PubMedDate not supplied

[Breast cancer genetics. BRCA1 and BRCA2: the main genes for disease predisposition].

Breast cancer is among the most common world cancers. In Mexico this neoplasm has been progressively increasing since 1990 and is expected to continue. The risk factors for this disease are age, some reproductive factors, ionizing radiation, contraceptives, obesity and high fat diets, among other factors. The main risk factor for BC is a positive family history. Several families, in which clustering but no mendelian inheritance exists, the BC is due probably to mutations in low penetrance genes and/or environmental factors. In families with autosomal dominant trait, the BRCA1 and BRCA2 genes are frequently mutated. These genes are the two main BC susceptibility genes. BRCA1 predispose to BC and ovarian cancer, while BRCA2 mutations predispose to BC in men and women. Both are long genes, tumor suppressors, functioning in a cell cycle dependent manner, and it is believed that both switch on the transcription of several genes, and participate in DNA repair. The mutations profile of these genes is known in developed countries, while in Latin America their search has just began. A multidisciplinary group most be responsible of the clinical management of patients with mutations in BRCA1 and BRCA2, and the risk assignment and Genetic counseling most be done carefully.

Adult↗

PubMed2026

Prostate Cancer, Genetic Susceptibility, and Risk of Chronic Non-Urological Complications.

BACKGROUND: Chronic nonurological complications are common among prostate cancer (PCa) survivors; however, their spectrum, magnitude, and genetic contribution remain poorly characterized. METHODS: We evaluated 15 commonly reported nonurological complications and tested their associations with exposure to PCa and disease-specific polygenic risk scores (PRS) in the UK Biobank (UKB; N = 219,133). Analyses were conducted using cause-specific Cox proportional-hazards models within a full-cohort framework with time-updated PCa status, delayed entry at study recruitment, and age as the underlying time scale. RESULTS: After recruitment, incident PCa was diagnosed in 13,780 men, of which 1,656 (12.02%) had metastatic PCa (mPCa). Risks for seven complications were higher among men with PCa, adjusting for genetic background (all p < 0.05), including osteoporosis, venous thromboembolism, depression, and four primary cancers (bladder, kidney, colorectal, and pancreatic). Risks were consistently stronger among men exposed to mPCa than non-mPCa; for example, the hazard ratio (HR) (95% confidence interval) for osteoporosis was 1.88 (1.63-2.18) for any PCa, 4.67 (3.11-7.01) for mPCa, and 1.75 (1.50-2.04) for non-mPCa. Elevated risks for three additional complications (coronary artery disease, type 2 diabetes and chronic obstructive pulmonary disease) were observed only among men with mPCa. The risks for these ten complications were further increased among men with higher disease-specific PRS; for example, the HR for osteoperosis in mPCa patients in the top PRS quartile was 13.57 (8.24-22.34) compared with men without PCa (p < 0.001). CONCLUSION: PCa diagnosis and inherited genetic susceptibility jointly contribute to increased risks of multiple chronic non-urological complications among survivors.

Humans↗

PubMed2002

A concept model for individual surveillance in genetic cancer care.

OBJECTIVE: To present the concept of individual surveillance in genetic risk management as a complex collection of other concepts, and to propose a model that represents how these component concepts may relate to each other. CONCEPT: The concept of "individual surveillance" has a set of lexical conditions, called critical attributes, antecedents, and consequence. The attributes are derived from the historical and contemporary use of the word and must be present for conceptualization. Antecedents are conditions that must exist before individual surveillance can occur, and consequences are those events that will always occur after individual surveillance. The popular association of surveillance with real or suspected criminal activity may design a predilection for critical attributes and confuse concept attainment. Before involving patients and family members in surveillance activities, clinicians should explore the subjective meaning of participation. MODEL: The model can be used, by a clinician and a patient, to describe and understand the meaning of individual surveillance for participants in a systematic, holistic, and highly personal way.

Follow-Up Studies↗

PubMed1992

Epidermodysplasia verruciformis as a model of human papillomavirus-induced genetic cancers: the role of local immunosurveillance.

Epidermodysplasia verruciformis (EV) presents a genetically determined, unusual susceptibility to infection with EV-specific human papillomaviruses (HPVs) related to abrogation of immunosurveillance exclusively against these viruses. The cutaneous viral carcinogenesis depends upon potentially oncogenic HPVs, the cocarcinogenic effect of ultraviolet irradiation, and genetic host factors, presumably a defect of anti-oncogenes or alleles of major histocompatibility complex and tumor necrosis factor locus involved in antigen presentation.

Epidermodysplasia Verruciformis↗

PubMed1996

Cancer genetics and cell and molecular biology. Is this the way forward?

Lung cancer, the most prevalent cancer in the western world, is predominantly caused by smoking and thus perceived as a "self-inflicted" disease. Nevertheless, only 20% of smokers develop lung cancer. This review examines the concept of high-risk populations and screening. It looks at developments in the molecular epidemiology of the disease that shed new light on genetic changes that may predispose individuals to malignancy. Improvements in existing drug therapy are discussed as well as important new therapeutic developments, including antigrowth factors (antagonists G and D), antimetastatic agents (matrix metalloproteinase inhibitors), and natural products, arising from a greater understanding of signal transduction pathways and the process of cell metastasis.

Antihypertensive Agents↗

PubMed1996

[Hereditary nonpolyposis colorectal cancer: genetics and prospective molecular screening].

Each year 3500 new cases of colorectal cancer (13% of total cancer cases) are registered in Switzerland. A yet unknown proportion of these cancers is associated with recently discovered gene defects in one of at Peast 4 genes participating together in an essential process. The function of these genes aims at the correction of certain erroneous hereditary informations that may occur when bases are not or mis-aligned. Mutations leading to anomalies in the expression of one of these genes favour strongly the development of certain early carcinomas, because they lead to an accelerated accumulation of further mutations expected to trigger carcinogenesis. It is estimated that about 2-3/1000 of the population carries a gene error typically manifested as the so called Lynch Syndrome, that concerns not only the colon but also the uterus, ovaries, the urogenital tract and diverse parts of the gastro-intestinal tract. The first observation which led the identification of these genes was a genetic instability within tumor cells showing a distinctly increased mutation rate in many different locations of the genome. Molecular identification of a factor predisposing to malignancy in one of these repair genes permits on one hand to abolish unnecessary investigations in members of families at risk that could be identified as non-carriers of this incriminating mutation and on the other hand to concentrate medical attention on carriers.

Colorectal Neoplasms, Hereditary Nonpolyposis↗

PubMed2002

Opportunities for prevention of prostate cancer: genetics, chemoprevention, and dietary intervention.

At least five susceptibility loci for the development of prostate cancer have been identified in the last several years. Although the specific genes involved have yet to be fully characterized, these discoveries hold promise for the identification of individuals at risk for prostate cancer years before development of the disease. Individuals identified as at risk through simple genetic screening (ie, a test on peripheral blood) could have a modified screening schedule, be entered into clinical trials of chemoprevention or dietary modification, and/or be treated according to the clinical characteristics of the cancer associated with a particular gene. Several large chemoprevention trials that exploit underlying pathogenetic mechanisms for the development of prostate cancer are currently underway or about to open. The future of prostate cancer is in the genes and our ability to manipulate the molecular events they cause.

Journal Article↗

PubMed2005

Controversies and ethical issues in cancer-genetics clinics.

Genetic testing is a powerful technology that enables prediction of future health status. Testing for cancer-predisposition genes provides information for both the individual and his or her family. The use of this information reaches beyond the medical sphere to the psychological, social, legal, and ethical. The important issues include informed consent, autonomy, confidentiality, justice, disclosure and non-disclosure, duty to warn, genetic discrimination, predictive genetic testing of children, preimplantation genetic diagnosis, and patenting of cancer-predisposition genes.

Child↗

PubMed1997

Breast and ovarian cancer: genetic update and implications for nursing.

Advances in genetics are changing approaches to detecting and treating breast and ovarian cancer. Scientific breakthroughs and thus implications for clinical care and patient education are essential areas of knowledge for all medical-surgical nurses. Future discoveries promise to change drastically the prevention and treatment of these diseases.

Breast Neoplasms↗