Dataset Information

Genetic Risk Information Disclosure study.

ABSTRACT: Interventions: Individual who are the first in their family to undertake mutation detection for a pathogenic mutation in either breast, ovarian or colorectal cancer and test positive are designated the proband. Probands are randomised to inform first and second degree relatives of their potential risk via either an active or passive method of disclosure. On the active disclosure arm, probands are encouraged to communicate directly with their relatives to inform them of their potential risk. In addition a Risk Notification Letter will be sent by the Familial Cancer Centre (FCC) to at risk relatives (ARR) informing them of the same. Probands randomised to the passive arm will be encouraged to inform their relatives of their potential risk but the FCC will not make contact with ARRs. Expected duration of recruitment and data capture phase of trial is 24 months. Primary outcome(s): The number of at-risk relatives who contact the FCC for further information[One year after randomisation] Study Design: Purpose: Educational / counselling / training; Allocation: Randomised controlled trial; Masking: Open (masking not used);Assignment: Parallel;Type of endpoint: Safety/efficacy

DISEASE(S): Genetic Mutations Predisposing To Breast, Ovarian Or Colorectal Cancer And Methods Of Disclosing That Information To Relatives,Human Genetics And Inherited Disorders-other Human Genetics And Inherited Disorders,Cancer-bowel-back Passage (rectum) Or Large Bowel (colon),Cancer-ovarian And Primary Peritoneal,Cancer-breast

PROVIDER: 2453394 | ecrin-mdr-crc |

REPOSITORIES: ECRIN MDR

ACCESS DATA

Similar Datasets

Project description:This study, conducted by NHGRI and the M.D. Anderson Cancer Center in Houston, Texas, will develop statistical approaches for modeling family social structure and apply these models to explore the role of family social structure in participation in genetic testing and counseling, disclosure of test results and adjustment to risk status. With recent genetic advances and the ability to test for hereditary illnesses, methods that provide an understanding of the family social structure and how that structure affects the dissemination of genetic risk information are increasingly important. The data for this study were collected by the M.D. Anderson Cancer Center as part of a study on family communication and family functioning with regard to genetic testing for hereditary nonpolyposis colon cancer (HNPCC). Relatives of people with HNPCC are more likely than the general population to get colon cancer and other types of cancer if they have inherited the gene alteration (mutation) that predisposes to the disease. This alteration can be passed on from a parent to some or all of his or her children. In the M.D. Anderson Cancer Center study, telephone interviews were conducted with 80 adult members of 16 extended families with a known gene alteration predisposing for HNPCC. These participants included people who had been diagnosed with an HNPCC syndrome cancer, their unaffected family members who were at risk of carrying a gene mutation for HNPCC, and their spouses. Participants were interviewed about their feelings, moods, coping style, and relationships with their spouse, relatives, and friends, about their willingness to have genetic testing, and about their feelings and beliefs about colon cancer, cancer screening and genetic testing and counseling. Some participants were asked about their family communication style and how the family coped with the idea of genetic testing and with the results, if testing was done. The information obtained from the current study may help facilitate family participation, communication and psychological adjustment regarding risk information about genetic diseases.

Project description:Passive smoke intake by pregnant women may have detrimental effects such as spontaneous abortion, lower birth weight, stillbirth, and reduced infant lung function. To extend our knowledge on molecular effects of tobacco smoke exposure in pregnancy, we analyzed transcriptome alterations in passive smokers (PS) and compared them to those in active smokers (AS). Using Illumina Expression Beadchip with 24,526 transcript probes, gene expression patterns were assayed in placentas from PS (N=25) exposed to environmental tobacco smoke (ETS) throughout pregnancy and non-exposed (NS) counterparts (N=35), and in cord blood cells from their newborns. The ETS exposure was evaluated by questionnaire disclosure and cotinine measurement in maternal and cord bloods. A total of 196 genes were significantly deregulated in placentas of PS compared to NS. These genes were primary associated with extracellular matrix, apoptosis, blood clotting, response to stress, embryonic morphogenesis, and lipid metabolism. Cord blood of newborns of PS displayed differential expression of 116 genes encoding mainly neuronal factors, regulators of immunologic response, and protooncogenes. Gene ontology analyses highlighted some important biological processes that might be associated with placental insufficiency and fetal growth restriction in PS, such as fatty acid catabolism, coagulation, regulation of growth, and response to steroid hormone stimulus. The study demonstrates that even low dose exposure to ETS during pregnancy leads to the significant deregulation of transcriptional regulation in placental and fetal cells. The data suggest the effect of ETS on the fetus is primary indirect, mediated via deregulation of placental functions. Comparison of PS and AS indicated that ETS exposure and active smoking in pregnancy partly employ the same molecular mechanisms. A total of 60 women who gave birth to a baby in the Faculty Hospital Motol (Czech Republic) were enrolled into the study approved by the local Institutional Review Board. The participants signed written informed consent and self-reported information on tobacco smoke exposure (type of exposure, number of cigarettes per day, exposure period) and life style during pregnancy (alcohol drinking, diet, area of residency etc.). Further, the women completed the questionnaire on pregnancy/delivery course (complications, diseases, medication, and delivery mode) and newborn characteristics (physical parameters, Apgar score) with the assistance of gynecologist. Only women without any health complications during pregnancy and their newborns without manifestation of pathological abnormalities were included in the study. Based on self-reported tobacco smoke exposure, the women were divided into two groups, non-smokers (NS, N=35) and passive smokers (PS, N=25). Former and active smokers were excluded from the study. Exposure to tobacco smoke was further evaluated by measurement of plasma cotinine levels in maternal peripheral blood and newborn cord blood using radioimmunoassay.

Dataset Information

Genetic Risk Information Disclosure study.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets