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Family history cancer

Hagit Schayek, Hila Korach, Yael Laitman, Rinat Bernstein-Molho, Eitan Friedman
PURPOSE: To define the mutational spectrum of several candidate gene mutations in Israeli male breast cancer cases. METHODS: MBC cases counselled at the Oncogenetics unit, Sheba Medical Center from January 1998 to June 2017 were included. Relevant clinical and oncological data and cancer phenotype were retrieved. All participants were genotyped for the predominant Jewish BRCA1 and BRCA2 germline mutations using a chip-based assay. Those who tested negative were further genotyped for three recurring mutations in CHEK2 (c...
March 21, 2018: Breast Cancer Research and Treatment
Josephine Feliciano, Breanna Becker, Manish Shukla, Joann Bodurtha
BACKGROUND: The risk factors, diagnosis, management, and outcomes for lung cancer (LC) are a family experience. Genetic and environmental factors interact to predispose certain groups to LC, including family member, and the family or caregiving unit experiences the disease course as an interdependent group. This qualitative study examined the concerns and preferences of LC patients about incorporating family in addressing their lung cancer experiences and cancer risks. METHODS: This project aims to identify concerns and preferences for addressing family history documentation, risk assessment, prevention, and follow-up issues for LC patients and their family...
March 21, 2018: Supportive Care in Cancer: Official Journal of the Multinational Association of Supportive Care in Cancer
Ladan Goshayeshi, Benyamin Hoseini, Zahra Yousefli, Alireza Khooie, Kobra Etminani, Abbas Esmaeilzadeh, Amin Golabpour
Background and aim: Gastric cancer is one of the most prevalent cancers in the world. Characterized by poor prognosis, it is a frequent cause of cancer in Iran. The aim of the study was to design a predictive model of survival time for patients suffering from gastric cancer. Methods: This was a historical cohort conducted between 2011 and 2016. Study population were 277 patients suffering from gastric cancer. Data were gathered from the Iranian Cancer Registry and the laboratory of Emam Reza Hospital in Mashhad, Iran...
December 2017: Electronic Physician
Bradley A Perkins, C Thomas Caskey, Pamila Brar, Eric Dec, David S Karow, Andrew M Kahn, Ying-Chen Claire Hou, Naisha Shah, Debbie Boeldt, Erin Coughlin, Gabby Hands, Victor Lavrenko, James Yu, Andrea Procko, Julia Appis, Anders M Dale, Lining Guo, Thomas J Jönsson, Bryan M Wittmann, Istvan Bartha, Smriti Ramakrishnan, Axel Bernal, James B Brewer, Suzanne Brewerton, William H Biggs, Yaron Turpaz, J Craig Venter
Reducing premature mortality associated with age-related chronic diseases, such as cancer and cardiovascular disease, is an urgent priority. We report early results using genomics in combination with advanced imaging and other clinical testing to proactively screen for age-related chronic disease risk among adults. We enrolled active, symptom-free adults in a study of screening for age-related chronic diseases associated with premature mortality. In addition to personal and family medical history and other clinical testing, we obtained whole-genome sequencing (WGS), noncontrast whole-body MRI, dual-energy X-ray absorptiometry (DXA), global metabolomics, a new blood test for prediabetes (Quantose IR), echocardiography (ECHO), ECG, and cardiac rhythm monitoring to identify age-related chronic disease risks...
March 19, 2018: Proceedings of the National Academy of Sciences of the United States of America
Lisa Carter-Harris, James E Slaven, Patrick O Monahan, Rivienne Shedd-Steele, Nasser Hanna, Susan M Rawl
Lung cancer screening is a relatively new screening option. Inequalities related to screening behavior have been documented in other types of cancer screening. Because stage at presentation drives mortality in lung cancer, it is critical to understand factors that influence screening behavior in lung cancer screening in order to intervene. However, we must first understand where disparities exist in lung cancer screening participation in order to effectively guide intervention efforts. Therefore, the purpose of this study was to determine the association of sociodemographic (including key disparity-related variables) and knowledge with lung cancer screening behavior...
June 2018: Preventive Medicine Reports
Sarah E Chadwell, Hua He, Sara Knapke, Jaime Lewis, Rebecca Sisson, Jennifer Hopper
Genetic testing for inherited cancer risk has recently improved through the advent of multi-gene panels and the addition of deletion and duplication analysis of the BRCA genes. The primary aim of this study was to determine which factors influence the intent of individuals with a personal history of breast and/or ovarian cancer and negative or uncertain BRCA1 and BRCA2 testing to return to a hereditary cancer program for additional genetic risk assessment, counseling, and testing. Surveys were sent to 1197 individuals and 257 were returned...
March 17, 2018: Journal of Genetic Counseling
Tina H T Chiu, Wen-Harn Pan, Ming-Nan Lin, Chin-Lon Lin
BACKGROUND/OBJECTIVES: Vegetarian diets are inversely associated with diabetes in Westerners but their impact on Asians-whose pathophysiology differ from Westerners-is unknown. We aim to investigate the association between a vegetarian diet, change in dietary patterns and diabetes risk in a Taiwanese Buddhist population. METHODS: We prospectively followed 2918 non-smoking, non-alcohol drinking Buddhists free of diabetes, cancer, and cardiovascular diseases at baseline, for a median of 5 years, with 183 incident diabetes cases confirmed...
March 9, 2018: Nutrition & Diabetes
E C Sattler, O K Steinlein
BACKGROUND: Birt-Hogg-Dubé syndrome is a genetic syndrome caused by mutations in the FLCN gene. The main symptoms are lung bullae and pneumothorax, benign and malignant kidney tumors, and facial fibrofolliculoma. The risk of pneumothorax is considerable between ages 20-40 years, but decreases markedly after this age range and first-time pneumothorax after age 50 years is rare. Fibrofolliculomas usually occur between ages 35 and 45 years, while the risk for kidney cancer increases steadily with age, starting in young adulthood...
March 16, 2018: BMC Medical Genetics
Liyun Cao, Chi Hyun Lee, Jing Ning, Beverly C Handy, Elizabeth A Wagar, Qing H Meng
CONTEXT: - Prostate cancer antigen 3 (PCA3) is a noncoding RNA that is highly overexpressed in prostate cancer (PCa) tissue and excreted in urine in patients with PCa. OBJECTIVE: - To assess the clinical utility of urinary PCA3 in men at risk of PCa. DESIGN: - We retrospectively reviewed a cohort of 271 men (median age, 63 years) with elevated prostate-specific antigen (PSA), and/or strong family history, and/or abnormal digital rectal examination findings...
March 16, 2018: Archives of Pathology & Laboratory Medicine
Franco Armelao, Riccardo Pertile, Gianni Miori, Renzo Franch, Ivo Avancini, Alberto Meggio, Gaia Franceschini, Cecilia Pravadelli, Chiara Tieppo, Katia Faitini, Davide Giacomin, Pier Giuseppe Orlandi, Enrico Tasini, Giovanni de Pretis
BACKGROUND AND AIMS: There are few prospective data about the use of surveillance colonoscopy and the risk of recurrent neoplasia in first degree relatives (FDRs) of colorectal cancer (CRC) patients. We examined the use and yield of surveillance colonoscopy in a population-based screening program (Trentino, Italy) METHODS: 1252 FDRs have been included in this study. We calculated compliance (percentage of FDRs who underwent surveillance colonoscopy among those eligible), appropriateness of colonoscopy (appropriate if performed within 6 months of the guidelines recommended interval) and diagnostic yield for neoplasia...
February 21, 2018: Digestive and Liver Disease
Blanca De Unamuno, Zaida García-Casado, José Bañuls, Celia Requena, José Antonio Lopez-Guerrero, Eduardo Nagore
CDKN2A germline mutations increase the risk of melanoma development and are present in 20 and 10% of familial and multiple melanoma cases, respectively. Pancreatic cancer has been associated with CDKN2A in some populations and, accordingly, its presence in first-degree or second-degree relatives of a melanoma patient is considered as a criterion for genetic testing. In this study, we show that in an area with low melanoma incidence, CDKN2A germline mutations in patients with melanoma and personal or family history of pancreatic cancer are mainly present in the setting of familial or multiple melanoma cases...
March 14, 2018: Melanoma Research
Carol Cremin, Sarah Howard, Lyly Le, Aly Karsan, David F Schaeffer, Daniel Renouf, Kasmintan A Schrader
Background: Approximately 5% to 10% of pancreatic ductal adenocarcinoma (PDAC) has a hereditary basis. In most of these defined hereditary cancer syndromes, PDAC is not the predominant cancer type. Traditional criteria for publicly funded genetic testing typically require the presence of a set combination of the predominant syndrome-associated cancer types in the family history.We report the identification of a CDKN2A pathogenic variant in a PDAC-prone family without the cutaneous features of multiple moles or melanoma that are characteristic of the Familial Atypical Multiple Mole Melanoma (FAMMM) Syndrome identified in a universal testing algorithm for inherited mutations in pancreatic cancer patients...
2018: Hereditary Cancer in Clinical Practice
Shigeo Yamaguchi, Tomoaki Fujii, Yuki Izumi, Yuki Fukumura, Min Han, Hideki Yamaguchi, Tomomi Akita, Chikamasa Yamashita, Shunsuke Kato, Takao Sekiya
During next generation sequencing (NGS) analysis, many missense mutations were found in a well-known oncogene, many of which were variant of uncertain significance mutations. We recently treated an adult patient with pancreatoblastoma by chemotherapy. Using an NGS cancer panel, we found a previously unreported missense mutation in the 1835 codon of the adenomatous polyposis coli ( APC ) gene. We also found a heterogeneous mutation in the 1835 codon of the APC gene in the patient's germline by Sanger sequencing...
February 13, 2018: Oncotarget
Jiekai Yu, Yanqin Huang, Chen Lin, Xiaofen Li, Xuefeng Fang, Chenhan Zhong, Ying Yuan, Shu Zheng
The serum protein markers of colorectal adenoma in patients with a family history of colorectal cancer have been rarely reported. Serum samples from colorectal adenoma patients with or without a family history of colorectal cancer and healthy controls were profiled using Matrix-Assisted Laser Desorption/Ionization Time of Flight Mass Spectrometry (MALDI-TOF-MS). The model to distinguish colorectal adenoma patients with a family history of colorectal cancer from atypical hereditary colorectal families (CRA-H) and sporadic colorectal adenoma patients without a family history of colorectal cancer (CRA-S) was established with 85...
2018: Journal of Cancer
D Zidekova, I Waczulikova, L Dolesova, L Vavrova, O Hamidova, R Lohajova Behulova, M Konecny
The average risk of breast cancer in general Slovak population of women is 4-5% and the risk of ovarian cancer is 2%. Probability of breast/ovarian cancer development is higher in individuals carrying a causative germline DNA variant in BRCA1 or BRCA2 gene responsible for hereditary breast/ovarian cancer (HBOC). Although a major proportion of inherited breast/ovarian cancers are due to the mentioned causal mutations, a number of new genes have emerged. Here we describe a rapid, multiplex and comprehensive approach for the detection of pathogenic variants in BRCA1 and BRCA2 genes which most frequently occur in Slovak HBOC population...
2018: Neoplasma
Elerson Gaetti-Jardim, Ellen Cristina Gaetti Jardim, Christiane Marie Schweitzer, Júlio Cesar Leite da Silva, Murilo Moura Oliveira, Danilo Chizzolini Masocatto, Cauê Monteiro Dos Santos
OBJECTIVE: This case-control study aimed to evaluate the effects of conventional radiotherapy (RT) on the prevalence and populations of oral microorganisms in head and neck cancer patients who did not receive adequate preventive dental care. It was hypothesized that side effects of radiotherapy could be associated with radiation dose, microbiological aspects, and socioeconomic conditions of the patients. DESIGN: Twenty-eight dentate patients with head and neck cancer submitted to RT were included in the study...
January 8, 2018: Archives of Oral Biology
Sahra Gibbon, Waleska Aureliano
Within the context of a globalising agenda for genetic research where 'global health' is increasingly seen as necessarily informed by and having to account for genomics, the focus on rare genetic diseases is becoming prominent. Drawing from ethnographic research carried out separately by both authors in Brazil, this paper examines how an emerging focus on two different arenas of rare genetic disease, cancer genetics and a class of degenerative neurological diseases known as Ataxias, is subject to and a product of the dynamics of inclusion and exclusion as this concerns participation in research and access to health care...
April 2018: Anthropology & Medicine
Charles J Kahi, Heiko Pohl, Laura J Myers, Dalia Mobarek, Douglas J Robertson, Thomas F Imperiale
Background: Colonoscopy is widely used in the Veterans Affairs (VA) health care system for colorectal cancer (CRC) prevention, but its effect on CRC mortality is unknown. Objective: To determine whether colonoscopy is associated with decreased CRC mortality in veterans and whether its effect differs by anatomical location of CRC. Design: Case-control study. Setting: VA-Medicare administrative data. Participants: Case patients were veterans aged 52 years or older who were diagnosed with CRC between 2002 and 2008 and died of the disease by the end of 2010...
March 13, 2018: Annals of Internal Medicine
Huma Q Rana, Rebecca Gelman, Holly LaDuca, Rachel McFarland, Emily Dalton, Jennifer Thompson, Virginia Speare, Jill S Dolinsky, Elizabeth C Chao, Judy E Garber
Background: Li-Fraumeni syndrome (LFS) has traditionally been identified by single-gene testing (SGT) of TP53 triggered by clinical criteria, but the widespread use of multigene panel tests (MGPTs) has upended this paradigm. We sought to compare the personal and family cancer histories of TP53-positive result (TP53+) carriers who were identified by either MGPT or SGT. Methods: Of 44 310 individuals who underwent testing of TP53 in a single clinical diagnostic laboratory between 2010 and 2014, 44 086 (40 885 MGPT and 3201 SGT) met study eligibility criteria...
February 26, 2018: Journal of the National Cancer Institute
Ali Jad Abdelwahab Yousef
Male breast cancer is a rare malignancy that accounts for less than 1% of all cancers in men and less than 1% of all breast cancers. But the incidence is rising and in some patient groups reaching 15% over the course of their lives. The major risk factors for the development of male breast cancer include advancing age, hormonal imbalance, radiation exposure, and a family history of breast cancer. Regarding the latter, incidence can be linked to mutations in high- or low-penetrance genes. The most relevant risk factor for the development of male breast cancer is a mutation in the BRCA2 gene...
August 2017: Seminars in Oncology
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