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Hereditary cancer

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https://www.readbyqxmd.com/read/28237283/ablative-therapies-for-renal-tumors-patient-selection-treatment-planning-and-follow-up
#1
Jean-Michel Correas, Christophe Delavaud, Jules Gregory, Thomas Le Guilchet, Lionel Lamhaut, Marc-Olivier Timsit, Arnaud Méjean, Olivier Hélénon
The increased use of abdominal imaging has led to a major increase in small renal tumors incidence particularly in the elderly population. Their management is evolving with the development of percutaneous ablation, particularly radiofrequency ablation, cryoablation, and microwave ablation. The typical indications that must be validated by a multidisciplinary committee include solid tumors less than 3cm in patients with multiple comorbidity factors (including age), contraindications to surgery, hereditary renal cancer, bilateral renal tumors, solitary kidney, pre-existing chronic kidney disease, or at high risk of predialysis renal function after partial nephrectomy...
February 2017: Seminars in Ultrasound, CT, and MR
https://www.readbyqxmd.com/read/28237281/hereditary-renal-tumor-syndromes-update-on-diagnosis-and-management
#2
Sonia Gaur, Baris Turkbey, Peter Choyke
Hereditary renal cancers account for approximately 5%-8% of all renal tumors. Over the past 2 decades, a number of syndromes have been identified that predispose patients to early renal cancer development, representing all the major histologic types of tumor pathology. In this article, we describe the current knowledge concerning the cell type, known mechanism of tumor development, other manifestations of the syndrome, imaging findings, genetic screening, and imaging surveillance recommendations for each of the major syndromes associated with hereditary renal cancers...
February 2017: Seminars in Ultrasound, CT, and MR
https://www.readbyqxmd.com/read/28224029/designing-clinical-and-genetic-guidelines-of-colorectal-cancer-screening-as-an-effective-roadmap-for-risk-management
#3
Mohammad Reza Zali, Reza Safdari, Elham Maserat, Hamid Asadzadeh Aghdaei
AIM: We aimed to present clinical and genetic guidelines of colorectal cancer screening for risk assessment of populations at risk. BACKGROUND: National guidelines can be used as a guide for choosing the method of screening for each individual. These guidelines facilitate decision making and support the delivery of cancer screening service. METHODS: In the first step, a comparative study was performed by using secondary data extracted from the literature review...
December 2016: Gastroenterology and Hepatology From Bed to Bench
https://www.readbyqxmd.com/read/28223670/-clinical-management-of-hboc-in-our-hospital
#4
Hidetaka Nomura, Nobuhiro Takeshima
The cumulative risks of developing epithelial ovarian cancer in women aged 70-75years with BRCA1 and BRCA2 germline mutations are approximately 39-40% and 11-18%, respectively. Here, we present the management of hereditary breast and ovarian cancer(HBOC)in our hospital. HBOC management commences with the selection of appropriate candidates for genetic testing, based on personal and familial characteristics that determine the individual's probability of being a mutation carrier. Pre-test counseling, which is an essential element of genetic counseling, should include discussion of why the test is being offered, how the test results may affect medical management, and the cancer risks associated with the gene mutation...
February 2017: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/28223669/-diagnosis-and-treatment-of-hboc-syndrome-by-a-breast-surgical-oncologist
#5
Kumiko Kida, Michiko Murai, Hideko Yamauchi
Of all breast cancer cases, 5-10% occur because of inherited germline mutation. For hereditary breast and ovarian cancer (HBOC)syndrome, congenital knowledge and strategies for breast cancer treatment and risk reduction are necessary. Regarding the surgical procedure for the cancer site, the ipsilateral breast tumor recurrence rate following breast-conserving surgery in breast cancers with BRCA1/2 mutation is not significantly higher than that in sporadic breast cancers. In addition, prognosis did not differ according to surgical methods...
February 2017: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/28223667/-molecular-diagnosis-and-treatment-of-hboc-syndrome
#6
Yoshio Miki
Hereditary breast and ovarian cancer(HBOC)is an inherited cancer caused by mutations of the BRCA1 or BRCA2 genes. BRCA genetic testing is used for HBOC diagnosis and continues to progress such as the annotation of VUS. In HBOC clinical practice, surveillance methods have been established through collaboration between genetic medicine and cancer medicine, and treatment, including options based on genetic diagnosis, has advanced significantly. Furthermore, the analysis of BRCA1 and BRCA2 function has progressed, and a novel therapeutic method based on synthetic lethality, such as a PARP inhibitor use, has been developed...
February 2017: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/28214786/cost-effectiveness-of-risk-reducing-surgeries-in-preventing-hereditary-breast-and-ovarian-cancer
#7
Michael G Schrauder, Lisa Brunel-Geuder, Lothar Häberle, Marius Wunderle, Juliane Hoyer, André Reis, Rüdiger Schulz-Wendtland, Matthias W Beckmann, Michael P Lux
OBJECTIVES: Risk-reducing surgeries are a feasible option for mitigating the risk in individuals with inherited susceptibility to cancer, but are the procedures cost-effective in the current health-care system in Germany? This study compared the health-care costs for bilateral risk-reducing mastectomy (BRRM) and risk-reducing (bilateral) salpingo-oophorectomy (RRSO) with cancer treatment costs that could potentially be prevented. PATIENTS AND METHODS: The analysis is based on interdisciplinary consultations with individuals with a high familial risk for breast and ovarian cancer at the University Breast Center for Franconia (Germany) between 2009 and 2013 (370 consultations; 44 patients with BRCA1 mutations and 26 with BRCA2 mutations)...
February 16, 2017: Breast: Official Journal of the European Society of Mastology
https://www.readbyqxmd.com/read/28212807/prevalence-of-brca1-and-brca2-large-genomic-rearrangements-in-tunisian-high-risk-breast-ovarian-cancer-families-implications-for-genetic-testing
#8
Aouatef Riahi, Habiba Chabouni-Bouhamed, Maher Kharrat
Germline mutations in the BRCA tumor suppressor genes account for a substantial proportion of hereditary breast/ovarian cancer. However, this contribution is lower than expected. This underestimation can partly be explained by the BRCA alterations missed by using Sanger sequencing methods. Thus, large genomic rearrangements (LGRs) in BRCA1 and BRCA2 are responsible for 4-28% of all inherited BRCA mutations. In this study, Multiplex ligation-dependent probe amplification (MLPA) assay was used for detection of large rearrangements of BRCA1 and BRCA2 genes in 36 unrelated high-risk breast/ovarian cancer patients negative for BRCA1/2 point mutations...
January 2017: Cancer Genetics
https://www.readbyqxmd.com/read/28211093/gsskat-rapid-gene-set-analysis-and-multiple-testing-correction-for-rare-variant-association-studies-using-weighted-linear-kernels
#9
Nicholas B Larson, Shannon McDonnell, Lisa Cannon Albright, Craig Teerlink, Janet Stanford, Elaine A Ostrander, William B Isaacs, Jianfeng Xu, Kathleen A Cooney, Ethan Lange, Johanna Schleutker, John D Carpten, Isaac Powell, Joan E Bailey-Wilson, Olivier Cussenot, Geraldine Cancel-Tassin, Graham G Giles, Robert J MacInnis, Christiane Maier, Alice S Whittemore, Chih-Lin Hsieh, Fredrik Wiklund, William J Catolona, William Foulkes, Diptasri Mandal, Rosalind Eeles, Zsofia Kote-Jarai, Michael J Ackerman, Timothy M Olson, Christopher J Klein, Stephen N Thibodeau, Daniel J Schaid
Next-generation sequencing technologies have afforded unprecedented characterization of low-frequency and rare genetic variation. Due to low power for single-variant testing, aggregative methods are commonly used to combine observed rare variation within a single gene. Causal variation may also aggregate across multiple genes within relevant biomolecular pathways. Kernel-machine regression and adaptive testing methods for aggregative rare-variant association testing have been demonstrated to be powerful approaches for pathway-level analysis, although these methods tend to be computationally intensive at high-variant dimensionality and require access to complete data...
February 16, 2017: Genetic Epidemiology
https://www.readbyqxmd.com/read/28210747/extent-of-field-change-in-colorectal-cancers-with-braf-mutation
#10
Aaron Poh, Heidi Sian Ying Chang, Kok Yang Tan, Xin Xiu Sam, Avery Khoo, Shoa Nian Choo, Min En Nga, Wei Keat Wan
INTRODUCTION: Sporadic colorectal cancers with BRAF mutations constitute two distinct subgroups of colorectal cancers. Recent studies have linked the presence of the BRAF mutation to a familial inheritance pattern. This was a proof-of-concept study that aimed to examine: (a) the extent of field change in sporadic colorectal cancers with BRAF mutation; and (b) the extent of resection margins required and the pattern of DNA mismatch repair protein loss in these tumours. METHODS: Eight microsatellite instability-high (MSI-H) tumours with positive BRAF mutation from an existing histopathological database were selected for BRAF mutation and mismatch repair protein analysis...
February 17, 2017: Singapore Medical Journal
https://www.readbyqxmd.com/read/28204904/high-risk-individuals-perceptions-of-reproductive-genetic-testing-for-cdh1-mutations
#11
Nina Hallowell, Shirlene Badger, Sue Richardson, Carlos Caldas, Richard H Hardwick, Rebecca C Fitzgerald, Julia Lawton
Reproductive genetic testing- PreNatal Diagnosis (PND) and Preimplantation Genetic Diagnosis (PGD)-for CDH1 mutations associated with Hereditary Diffuse Gastric Cancer (HDGC)is available in the UK. This qualitative interview study examined high-risk individuals' (n = 35) views of CDH1 reproductive genetic testing. Interviewees generally regarded reproductive genetic testing as an acceptable form of HDGC risk management. However, some were concerned that their genetic risks required them to plan reproduction and anticipated difficulties communicating this to reproductive partners...
February 15, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28197815/choosing-not-to-undergo-predictive-genetic-testing-for-hereditary-colorectal-cancer-syndromes-expanding-our-understanding-of-decliners-and-declining
#12
Louise A Keogh, Heather Niven, Alison Rutstein, Louisa Flander, Clara Gaff, Mark Jenkins
While medical research continues to investigate the genetic basis of cancer, and personalised prevention gains momentum, little research has been conducted with the individuals who decline predictive genetic testing for cancer. We recruited individuals who had been offered genetic testing for Lynch syndrome or bi-allelic MUTYH mutations due to their participation in a large, population-based, Australia-wide colorectal cancer study. Thirty-three individuals in mutation-carrying families, unaffected by cancer, who had actively or passively declined testing at one of four decision-making points, took part in a qualitative interview about their decision...
February 14, 2017: Journal of Behavioral Medicine
https://www.readbyqxmd.com/read/28197806/recruiting-families-at-risk-for-hereditary-breast-and-ovarian-cancer-from-a-statewide-cancer-registry-a-methodological-study
#13
Maria C Katapodi, Deb Duquette, James J Yang, Kari Mendelsohn-Victor, Beth Anderson, Christos Nikolaidis, Emily Mancewicz, Laurel L Northouse, Sonia Duffy, David Ronis, Kara J Milliron, Nicole Probst-Herbst, Sofia D Merajver, Nancy K Janz, Glenn Copeland, Scott Roberts
PURPOSE: Cancer genetic services (counseling/testing) are recommended for women diagnosed with breast cancer younger than 45 years old (young breast cancer survivors-YBCS) and at-risk relatives. We present recruitment of YBCS, identification and recruitment of at-risk relatives, and YBCS willingness to contact their cancer-free, female relatives. METHODS: A random sample of 3,000 YBCS, stratified by race (Black vs. White/Other), was identified through a population-based cancer registry and recruited in a randomized trial designed to increase use of cancer genetic services...
March 2017: Cancer Causes & Control: CCC
https://www.readbyqxmd.com/read/28196407/comprehensive-genomic-and-phenotypic-characterization-of-germline-fh-deletion-in-hereditary-leiomyomatosis-and-renal-cell-carcinoma-hlrcc
#14
Cathy D Vocke, Christopher J Ricketts, Maria J Merino, Ramaprasad Srinivasan, Adam R Metwalli, Lindsay A Middelton, James Peterson, Youfeng Yang, W Marston Linehan
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a familial cancer syndrome associated with the development of cutaneous and uterine leiomyomas, and an aggressive form of type 2 papillary kidney cancer. HLRCC is characterized by germline mutation of the FH gene. This study evaluated the prevalence and clinical phenotype of FH deletions in HLRCC patients. Patients with phenotypic manifestations consistent with HLRCC who lacked detectable germline FH intragenic mutations were investigated for FH deletion...
February 14, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28195815/a-life-potentially-saved-through-hereditary-cancer-panel-testing
#15
Dustin Marks, Allison McHenry, Tara Biagi, Elizabeth Stark, Marie Borum, Paul Lin, Rebecca Kaltman
No abstract text is available yet for this article.
February 14, 2017: Journal of Oncology Practice
https://www.readbyqxmd.com/read/28195105/hereditary-leiomyomatosis-and-renal-cell-cancer-syndrome-associated-renal-cell-carcinoma
#16
Shraddha Adamane, Sangeeta Desai, Santosh Menon
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a recently described entity with unknown exact prevalence. The affected individuals are predisposed to have multiple leiomyomas and renal cancer due to germline mutation in fumarate hydratase gene on chromosome 1. The knowledge of this rare tumour is essential for early recognition and institution of appropriate therapy, since they have a grave prognosis. Herein, we present the first case from India of HLRCC in a 42 year old lady who presented with a renal mass and metastasis with consequent fulminant course of disease...
January 2017: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/28188963/high-risk-epithelial-ovarian-cancer-patients-for-hereditary-ovarian-cancer
#17
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
#18
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/28187278/translating-germline-cancer-risk-into-precision-prevention
#19
Matthew B Yurgelun, Georgia Chenevix-Trench, Scott M Lippman
Study of the biology of tumors caused by germline mutations has led to recent paradigm-changing therapy and is driving precision prevention efforts, including immune oncology and early detection research. Here, we explore recent biologic advances that are redefining the spectrum of cancers linked to various hereditary predisposition syndromes and can be leveraged to improve personalized risk assessment and develop novel interventions to prevent or intercept cancer.
February 9, 2017: Cell
https://www.readbyqxmd.com/read/28185119/biallelic-brca2-mutations-in-two-black-south-african-children-with-fanconi-anaemia
#20
Candice Feben, Careni Spencer, Anneline Lochan, Nakita Laing, Karen Fieggen, Engela Honey, Tasha Wainstein, Amanda Krause
Fanconi anaemia (FA) is a genotypically and phenotypically heterogeneous genetic condition, characterized cytogenetically by chromosomal instability and breakage secondary to impaired DNA repair mechanisms. Affected individuals typically manifest growth restriction and congenital physical abnormalities and most progress to hematological disease including bone marrow aplasia. A rare genetic subtype of FA (FA-D1) is caused by biallelic mutations in the BRCA2 gene. Affected individuals manifest severe congenital anomalies and significant pigmentary changes and are additionally at risk for early onset leukemia and certain solid organ malignancies, including Wilms tumors and brain tumors...
February 9, 2017: Familial Cancer
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