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https://www.readbyqxmd.com/read/28213624/oligometastatic-colorectal-cancer-is-single-site-bony-colorectal-metastasis-a-treatable-condition
#1
Noel Cassar, Adrian Ben Cresswell, Brendan Moran
INTRODUCTION: A potentially resectable bony metastasis in the context of oligometastatic colorectal cancer is uncommon. Bony metastases are usually considered a late event with poor prognosis and generally associated with liver and/or lung metastases. INDEX CASE: A previously healthy 33-year-old gentleman, with no family history of colorectal cancer, presented with rectal bleeding and at colonoscopy had a biopsy-proven adenocarcinoma of the rectum, 7 cm from the anal verge...
February 17, 2017: International Journal of Colorectal Disease
https://www.readbyqxmd.com/read/28206961/lynch-syndrome-related-small-intestinal-adenocarcinomas
#2
Sun-Young Jun, Eui-Jin Lee, Mi-Ju Kim, Sung Min Chun, Young Kyung Bae, Soon Uk Hong, Jene Choi, Joon Mee Kim, Kee-Taek Jang, Jung Yeon Kim, Gwang Il Kim, Soo Jin Jung, Ghilsuk Yoon, Seung-Mo Hong
Lynch syndrome is an autosomal-dominant disorder caused by defective DNA mismatch repair (MMR) genes and is associated with increased risk of malignancies in multiple organs. Small-intestinal adenocarcinomas are common initial manifestations of Lynch syndrome. To define the incidence and characteristics of Lynch syndrome-related small-intestinal adenocarcinomas, meticulous familial and clinical histories were obtained from 195 patients with small-intestinal adenocarcinoma, and MMR protein immunohistochemistry, microsatellite instability, MLH1 methylation, and germline mutational analyses were performed...
February 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28205045/characteristics-of-brca1-2-mutations-carriers-including-large-genomic-rearrangements-in-high-risk-breast-cancer-patients
#3
Boyoung Park, Ji Yeon Sohn, Kyong-Ah Yoon, Keun Seok Lee, Eun Hae Cho, Myong Cheol Lim, Moon Jung Yang, Soo Jin Park, Moo Hyun Lee, See Youn Lee, Yoon Jung Chang, Dong Ock Lee, Sun-Young Kong, Eun Sook Lee
PURPOSE: We investigated the prevalence of BRCA1/2 small mutations and large genomic rearrangements in high risk breast cancer patients who attended a genetic counseling clinic. METHODS: In total 478 patients were assessed for BRCA1/2 mutations by direct sequencing, of whom, 306 were identified as non-carriers of BRCA1/2 mutation and assessed for large rearrangement mutations by multiplex ligation-dependent probe amplification. Family history and clinicopathological characteristics of patients were evaluated...
February 15, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28202637/supplemental-selenium-may-decrease-ovarian-cancer-risk-in-african-american-women
#4
Paul D Terry, Bo Qin, Fabian Camacho, Patricia G Moorman, Anthony J Alberg, Jill S Barnholtz-Sloan, Melissa Bondy, Michele L Cote, Ellen Funkhouser, Kristin A Guertin, Edward S Peters, Ann G Schwartz, Joellen M Schildkraut, Elisa V Bandera
Background: To our knowledge, no previous study has evaluated the associations of antioxidant intake with the risk of ovarian cancer in African-American women, who are known to have high mortality from the disease.Objective: We sought to evaluate these associations among 406 ovarian cancer cases and 632 age- and site-matched controls of African-American descent recruited from AACES (African American Cancer Epidemiology Study), a population-based, case-control study in 11 geographical areas within the United States...
February 15, 2017: Journal of Nutrition
https://www.readbyqxmd.com/read/28202063/next-generation-sequencing-in-familial-breast-cancer-patients-from-lebanon
#5
Nadine Jalkh, Eliane Chouery, Zahraa Haidar, Christina Khater, David Atallah, Hamad Ali, Makia J Marafie, Mohamed R Al-Mulla, Fahd Al-Mulla, Andre Megarbane
BACKGROUND: Familial breast cancer (BC) represents 5 to 10% of all BC cases. Mutations in two high susceptibility BRCA1 and BRCA2 genes explain 16-40% of familial BC, while other high, moderate and low susceptibility genes explain up to 20% more of BC families. The Lebanese reported prevalence of BRCA1 and BRCA2 deleterious mutations (5.6% and 12.5%) were lower than those reported in the literature. METHODS: In the presented study, 45 Lebanese patients with a reported family history of BC were tested using Whole Exome Sequencing (WES) technique followed by Sanger sequencing validation...
February 15, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28199193/epigenetic-and-risk-factors-of-testicular-germ-cell-tumors-a-brief-review
#6
Daniel Adrian Landero-Huerta, Rosa Maria Vigueras-Villasenor, Emiy Yokoyama-Rebollar, Elena Arechaga-Ocampo, Julio Cesar Rojas-Castaneda, Francisco Jimenez-Trejo, Margarita Chavez-Saldana
Testicular germ cell cancer (TGCT) is the most common malignancy among young adult males, which has become important due to its increased incidence and mortality in the population worldwide. The etiology is multifactorial. Recent studies have shown some associations between the development of isolated TGCT and certain risk factors, such as exposure to endocrine disruptors, cryptorchidism, and family history of cancer, in order to identify the key pieces in carcinogenesis. Some of the most important findings in recent years is the association of different genes, such as c-KIT/KITLG, expression of the miR-371-373 cluster and protein expression as c-KIT and POU5F1 in the development of this neoplasia, and the identification of new molecular markers as TGFBR3 gene, identifying aberrant methylation patterns in promoter regions of several genes, expression of miR-1297 which regulates PTEN and protein expression as DMTR1...
March 1, 2017: Frontiers in Bioscience (Landmark Edition)
https://www.readbyqxmd.com/read/28198505/migration-and-invasion-enhancer-1-mien1-is-overexpressed-in-breast-cancer-and-is-a-potential-new-therapeutic-molecular-target
#7
H-B Zhao, X-F Zhang, H-B Wang, M-Z Zhang
Migration and invasion enhancer 1 (MIEN1) is a membrane-anchored protein that is highly expressed in various types of cancer, and is correlated with the PI3K/AKT pathway. The aim of this study was to investigate the expression of MIEN1 and its clinical pathological significance in breast cancer. We used immunohistochemical staining to examine the expression of MIEN1 in 40 samples of human breast cancer tissue and 10 samples taken from regions adjacent to normal breast tissue. The rate of detection of MIEN1 protein was 67...
February 8, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28198461/risk-of-other-cancers-in-families-with-melanoma-novel-familial-links
#8
Christoph Frank, Jan Sundquist, Akseli Hemminki, Kari Hemminki
A family history of cutaneous melanoma ('melanoma') is a well-established risk factor for melanoma. However, less is known about the possible familial associations of melanoma with other discordant cancers. A risk for discordant cancer may provide useful information about shared genetic and environmental risk factors and it may be relevant background data in clinical genetic counseling. Using the Swedish Family-Cancer Database, we assessed the relative risk (RR) for any cancer in families with increasing numbers of first-degree relatives diagnosed with melanoma, including multiple melanoma, and in reverse order RR for melanoma in families of multiple discordant cancers...
February 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28197220/association-between-thyroid-cancer-and-epidermal-growth-factor-receptor-mutation-in-female-with-nonsmall-cell-lung-cancer
#9
Seo Yun Kim, Hye-Ryoun Kim, Cheol Hyeon Kim, Jae Soo Koh, Hee Jong Baek, Chang-Min Choi, Joon Seon Song, Jae Cheol Lee, Im Ii Na
BACKGROUND: The aim of this study was to investigate the association between epidermal growth factor receptor (EGFR) mutation and thyroid cancer in female patients with nonsmall-cell lung cancer (NSCLC). METHODS: In a retrospective study, we examined 835 female patients who were diagnosed with NSCLC and underwent an EGFR mutation test between June 2003 and August 2013. The associations of EGFR mutation with thyroid cancer and a family history of thyroid cancer were evaluated using logistic regression models...
January 2017: Annals of Thoracic Medicine
https://www.readbyqxmd.com/read/28195527/the-effect-of-women-s-breast-cancer-fear-and-social-support-perceptions-on-the-process-of-participating-in-screening
#10
Aygul Kissal, Birgül Vural, Fatma Ersin, Tuğba Solmaz
INTRODUCTION: Social support and fear have been shown to be important factors affecting women's participation in breast cancer screening. This study aimed to determine the effect of women's perceived breast cancer fear and social support on participating in the breast cancer screening process, and to investigate the relationship between the perception of breast cancer fear and social support. METHODS: This is a descriptive study, carried out in a state hospital on 198 women...
February 1, 2017: Global Health Promotion
https://www.readbyqxmd.com/read/28192846/-how-do-primary-care-physicians-manage-their-patients-with-helicobacter-pylori-infection-results-of-a-survey-and-their-implementation-into-the-german-s2k-guideline-2016
#11
Wolfgang Fischbach, Annemarie Zerl, Christine Klassert
Background The German S3 guideline "H. pylori and gastroduodenal ulcer disease" clearly recommends how to diagnose H. pylori infection. It also states when and how eradication therapy should be done. However, there are only few data available on the management of these patients in daily routine. With this survey, we wanted to gather information on how primary care physicians are involved in the management of H. pylori infection and how they follow the guideline recommendations. From this, consequences for the update of the new S2k guideline 2016 and their communication should be derived...
February 2017: Zeitschrift Für Gastroenterologie
https://www.readbyqxmd.com/read/28192371/somatic-mutations-in-telomerase-promoter-counterbalance-germline-loss-of-function-mutations
#12
Lindley Maryoung, Yangbo Yue, Ashley Young, Chad A Newton, Cindy Barba, Nicolai S C van Oers, Richard C Wang, Christine Kim Garcia
Germline coding mutations in different telomere-related genes have been linked to autosomal-dominant familial pulmonary fibrosis. Individuals with these inherited mutations demonstrate incomplete penetrance of clinical phenotypes affecting the lung, blood, liver, skin, and other organs. Here, we describe the somatic acquisition of promoter mutations in telomerase reverse transcriptase (TERT) in blood leukocytes of approximately 5% of individuals with inherited loss-of-function coding mutations in TERT or poly(A)-specific ribonuclease (PARN), another gene linked to telomerase function...
February 13, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28190657/cross-sectional-analysis-of-biobank-japan-clinical-data-a-large-cohort-of-200-000-patients-with-47-common-diseases
#13
Makoto Hirata, Yoichiro Kamatani, Akiko Nagai, Yutaka Kiyohara, Toshiharu Ninomiya, Akiko Tamakoshi, Zentaro Yamagata, Michiaki Kubo, Kaori Muto, Taisei Mushiroda, Yoshinori Murakami, Koichiro Yuji, Yoichi Furukawa, Hitoshi Zembutsu, Toshihiro Tanaka, Yozo Ohnishi, Yusuke Nakamura, Koichi Matsuda
BACKGROUND: To implement personalized medicine, we established a large-scale patient cohort, BioBank Japan, in 2003. BioBank Japan contains DNA, serum, and clinical information derived from approximately 200,000 patients with 47 diseases. Serum and clinical information were collected annually until 2012. METHODS: We analyzed clinical information of participants at enrollment, including age, sex, body mass index, hypertension, and smoking and drinking status, across 47 diseases, and compared the results with the Japanese database on Patient Survey and National Health and Nutrition Survey...
February 9, 2017: Journal of Epidemiology
https://www.readbyqxmd.com/read/28188963/high-risk-epithelial-ovarian-cancer-patients-for-hereditary-ovarian-cancer
#14
Seksit Chirasophon, Tarinee Manchana, Chinachote Teerapakpinyo
AIM: Risk assessment to identify patients at risk for hereditary ovarian cancer is important. The objectives of this study were to evaluate the frequency of high-risk epithelial ovarian cancer (EOC) patients and the frequency of germline mutation in these patients. METHODS: A total of 335 patients with histologically confirmed non-mucinous EOC were included. High-risk patients were defined as patients who had: (i) significant family history of breast/ovarian/colorectal/endometrial cancers; (ii) synchronous breast/endometrial/colorectal cancer; or (iii) high-grade serous carcinoma...
February 11, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28188191/payer-coverage-for-hereditary-cancer-panels-barriers-opportunities-and-implications-for-the-precision-medicine-initiative
#15
Julia R Trosman, Christine B Weldon, Michael P Douglas, Allison W Kurian, R Kate Kelley, Patricia A Deverka, Kathryn A Phillips
Background: Hereditary cancer panels (HCPs), testing for multiple genes and syndromes, are rapidly transforming cancer risk assessment but are controversial and lack formal insurance coverage. We aimed to identify payers' perspectives on barriers to HCP coverage and opportunities to address them. Comprehensive cancer risk assessment is highly relevant to the Precision Medicine Initiative (PMI), and payers' considerations could inform PMI's efforts. We describe our findings and discuss them in the context of PMI priorities...
February 2017: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/28186998/somatic-molecular-subtyping-of-prostate-tumors-from-hoxb13-g84e-carriers
#16
Tamara L Lotan, Alba Torres, Miao Zhang, Jeffrey J Tosoian, Liana B Guedes, Helen Fedor, Jessica Hicks, Charles M Ewing, Sarah D Isaacs, Dorhyun Johng, Angelo M De Marzo, William B Isaacs
A recurrent germline mutation (G84E) in the HOXB13 gene is associated with early onset and family history-positive prostate cancer in patients of European descent, occurring in up to 5% of prostate cancer families. To date, the molecular features of prostate tumors occurring in HOXB13 G84E carriers have not been studied in a large cohort of patients. We identified 101 heterozygous carriers of G84E who underwent radical prostatectomy for prostate cancer between 1985 and 2011 and matched these men by race, age and tumor grade to 99 HOXB13 wild-type controls...
February 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28184945/first-description-of-a-double-heterozygosity-for-brca1-and-brca2-pathogenic-variants-in-a-french-metastatic-breast-cancer-patient-a-case-report
#17
Guillaume Meynard, Laura Mansi, Pierre Lebahar, Cristian Villanueva, Elodie Klajer, Fabien Calcagno, Adrian Vivalta, Marie Chaix, Marie-Agnès Collonge-Rame, Céline Populaire, Marie-Paule Algros, Prudence Colpart, Julie Neidich, Xavier Pivot, Elsa Curtit
Hereditary breast and ovarian cancer syndrome is an autosomal dominant disease caused primarily by germline mutations in the BRCA1 or BRCA2 gene. Rare cases of double heterozygosity for BRCA1 and BRCA2 mutations have been reported quite exceptionally in non-Ashkenazi individuals. We describe the case of a woman who developed a bilateral breast cancer, discovered concomitantly, at 46 years old. Biopsies confirmed the presence of two breast cancers with distinct histology. BRCA analysis was tested due to a positive family history of breast cancer, and two pathogenic monoallelic mutations were detected, one in the BRCA1 gene and one in the BRCA2 gene...
March 2017: Oncology Reports
https://www.readbyqxmd.com/read/28184943/analysis-of-chromosomal-radiosensitivity-of-healthy-brca2-mutation-carriers-and-non-carriers-in-brca-families-with-the-g2-micronucleus-assay
#18
Annelot Baert, Julie Depuydt, Tom Van Maerken, Bruce Poppe, Fransiska Malfait, Tim Van Damme, Sylvia De Nobele, Gianpaolo Perletti, Kim De Leeneer, Kathleen B M Claes, Anne Vral
Breast cancer risk drastically increases in individuals with a heterozygous germline BRCA1 or BRCA2 mutation, while it is estimated to equal the population risk for relatives without the familial mutation (non-carriers). The aim of the present study was to use a G2 phase-specific micronucleus assay to investigate whether lymphocytes of healthy BRCA2 mutation carriers are characterized by increased radiosensitivity compared to controls without a family history of breast/ovarian cancer and how this relates to healthy non-carrier relatives...
March 2017: Oncology Reports
https://www.readbyqxmd.com/read/28183138/overall-survival-and-clinical-characteristics-of-brca-mutation-carriers-with-stage-i-ii-pancreatic-cancer
#19
Talia Golan, Tal Sella, Eileen M O'Reilly, Matthew H G Katz, Ron Epelbaum, David P Kelsen, Ayelet Borgida, Hannah Maynard, Hedy Kindler, Eitan Friedmen, Milind Javle, Steven Gallinger
BACKGROUND: BRCA1/BRCA2 germ line (GL) mutation carriers with pancreatic adenocarcinoma (PDAC) may have distinct outcomes. We recently described an apparent more favourable prognosis of surgically resected BRCA-associated PDAC patients in a single-arm, uncontrolled, retrospective study. However, the prognostic impact of GL BRCA1/2 mutations in surgically resected PDAC has not been compared with a matched control population. METHODS: A larger multi-centre, case-control retrospective analysis was performed...
February 9, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28181993/bariatric-surgery-prior-to-index-screening-colonoscopy-is-associated-with-a-decreased-rate-of-colorectal-adenomas-in-obese-individuals
#20
Dmitriy Kedrin, Shaan-Chirag Chandrahas Gandhi, Molly Wolf, Jatin Roper, Omer Yilmaz, Kathleen Corey, Hamed Khalili, Fatima Cody Stanford, Manish Gala
OBJECTIVES: Obesity is an important risk factor for the development of colorectal cancer (CRC). Although the impact of bariatric surgery on CRC is conflicting, its impact on precursor lesions is unknown. The aim of this study was to determine whether bariatric surgery before index screening colonoscopy is associated with decreased development of colorectal adenomas. METHODS: We performed a retrospective cohort study of bariatric surgery patients who had undergone index, screening colonoscopy at an academic center from 2001 to 2014...
February 9, 2017: Clinical and Translational Gastroenterology
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