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BRCA and heart

Shreeya Patel, Rosa Legood, D Gareth Evans, Clare Turnbull, Antonis C Antoniou, Usha Menon, Ian Jacobs, Ranjit Manchanda
BACKGROUND: Population-based BRCA1/BRCA2 founder-mutation testing has been demonstrated as cost effective compared with family history based testing in Ashkenazi Jewish women. However, only 1 of the 3 Ashkenazi Jewish BRCA1/BRCA2 founder mutations (185delAG[c.68_69delAG]), 5382insC[c.5266dupC]), and 6174delT[c.5946delT]) is found in the Sephardi Jewish population (185delAG[c.68_69delAG]), and the overall prevalence of BRCA mutations in the Sephardi Jewish population is accordingly lower (0...
April 2018: American Journal of Obstetrics and Gynecology
Emily A Rauscher, Marleah Dean
INTRODUCTION: The purpose of this study was to identify previvors' strategies for communicating about family planning after testing positive for a variant of the "breast cancer gene" (BRCA). METHOD: Semistructured interviews were conducted with 20 women currently in committed romantic relationships, but who had not yet completed family planning upon finding out about their BRCA mutation status. RESULTS: Data analysis produced three categories of participant advice given to newly diagnosed previvors...
December 2017: Families, Systems & Health: the Journal of Collaborative Family Healthcare
Monique Sajjad, Michael Fradley, Weihong Sun, Jongphil Kim, Xiuhua Zhao, Tuya Pal, Roohi Ismail-Khan
Anthracycline-based cardiotoxicity is concerning for women with breast cancer and portends a dose-dependent risk of developing left ventricular dysfunction. Overall, the prevalence of heart failure (HF) is ≈2% of the total US population; however, BRCA-deficient mice have shown increased HF. We evaluated for the inherent risk of HF in women with BRCA mutations to determine whether treatment with anthracycline-based therapy increased this risk. We obtained results on BRCA mutation carriers regarding cancer treatment and HF, identified through the BRCA patient advocacy organization Facing Our Risk for Cancer Empowered (FORCE) and the Moffittbased Inherited Cancer Registry...
February 2, 2017: Genes
Edward J Pearson, Anju Nair, Yahya Daoud, Joanne L Blum
PURPOSE: Breast cancer remains the fourth-leading cause of death in the United States. Nearly 10% of breast cancers are hereditary, with deleterious mutations in BRCA1 and BRCA2 genes being the leading cause. Anthracycline chemotherapy, used commonly for breast cancer, carries cardiotoxicity risk. Recent studies demonstrated anthracycline-induced cardiac failure in homozygous BRCA2-deficient mice and increased rates of heart failure in homozygous BRCA1-deficient mice following ischemic insult...
February 2017: Breast Cancer Research and Treatment
J K Nozynski, D Konecka-Mrowka, M Zakliczynski, E Zembala-Nozynska, D Lange, M Zembala
BACKGROUND: The role of BRCA1 in chronic ischemic episodes seems to be pivotal for adverse remodeling and development of ischemic cardiomyopathy, because of its role in DNA repair and apoptosis. The aim of this study was to investigate the role of BRCA-1 in idiopathic dilated cardiomyopathy (IDCM). MATERIAL AND METHODS: The study group (IDCM) comprised myocardial samples from hearts explanted before transplantation owing to IDCM in 10 males (age 44 ± 5.3 years) without clinical symptoms of ischemic heart disease...
June 2016: Transplantation Proceedings
S Vujovic, S Vujosevic, S Kavaric, J Sopta, M Ivovic, A Saveanu, T Brue, M Korbonits, V Popovic
People are at higher risk of cancer as they get older or have a strong family history of cancer. The potential influence of environmental and behavioral factors remains poorly understood. Earlier population and case control studies reported that upper quartile of circulating IGF-I is associated with a higher risk of developing cancer suggesting possible involvement of the growth hormone (GH)/IGF system in initiation or progression of cancer. Since GH therapy increases IGF-1 levels, there have been concerns that GH therapy in hypopituitarism might increase the risk of cancer...
May 2016: Endocrine
Joel Krier, Richard Barfield, Robert C Green, Peter Kraft
BACKGROUND: Disease risk assessments based on common genetic variation have gained widespread attention and use in recent years. The clinical utility of genetic risk profiles depends on the number and effect size of identified loci, and how stable the predicted risks are as additional loci are discovered. Changes in risk classification for individuals over time would undermine the validity of common genetic variation for risk prediction. In this analysis, we quantified reclassification of genetic risk based on past and anticipated future GWAS data...
February 17, 2016: Genome Medicine
Dong Wha Jun, Mihwa Hwang, Hyun Jung Kim, Soo Kyung Hwang, Sunshin Kim, Chang-Hun Lee
Modulation of the DNA repair pathway is an emerging target for the development of anticancer drugs. DNA interstrand cross-links (ICLs), one of the most severe forms of DNA damage caused by anticancer drugs such as cisplatin and mitomycin C (MMC), activates the Fanconi anemia (FA)/BRCA DNA repair pathway. Inhibition of the FA/BRCA pathway can enhance the cytotoxic effects of ICL-inducing anticancer drugs and can reduce anticancer drug resistance. To find FA/BRCA pathway inhibitory small molecules, we established a cell-based high-content screening method for quantitating the activation of the FA/BRCA pathway by measuring FANCD2 foci on DNA lesions and then applied our method to chemical screening...
2013: PloS One
Kai Insa Schneider, Jörg Schmidtke
For this literature review, medical literature data bases were searched for studies on patient compliance after genetic risk assessment. The review focused on conditions where secondary or tertiary preventive options exist, namely cancer syndromes (BRCA-related cancer, HNPCC/colon cancer), hemochromatosis, thrombophilia, smoking cessation, and obesity. As a counterpart, patient compliance was assessed regarding medication adherence and medical advice in some of the most epidemiologically important conditions (including high blood pressure, metabolic syndrome, and coronary heart disease) after receiving medical advice based on nongenetic risk information or a combination of genetic and nongenetic risk information...
January 2014: Journal of Community Genetics
Danielle Campfield Bonadies, Anne Moyer, Ellen T Matloff
We retrospectively studied BRCA carriers with a history of prophylactic bilateral salingo-oophorectomy (PBSO) regarding: (1) their post-operative symptoms, (2) their recollection of pre-operative conversations with their health care providers regarding possible surgical side-effects and (3) what information they would have found helpful to have before surgery. Female BRCA carriers seen through the Yale Cancer Genetic Counseling Program who had PBSO were invited to participate in a questionnaire that assessed their recall of information they received pre-operatively compared with their post-operative knowledge and symptoms related to menopause, cognitive changes, loss of fertility, cancer risks, osteoporosis, heart disease, vasomotor symptoms, urogenital symptoms, sexuality and body image...
March 2011: Familial Cancer
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