scholarly journals Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome

2020 ◽  
Vol 28 (10) ◽  
pp. 1387-1393 ◽  
Author(s):  
Marc Tischkowitz ◽  
◽  
Chrystelle Colas ◽  
Sjaak Pouwels ◽  
Nicoline Hoogerbrugge ◽  
...  
Keyword(s):  
Multidisciplinary Approach ◽  
Cancer Colorectal ◽  
Evidence Base ◽  
Cancer Surveillance ◽  
Clinical Genetics ◽  
International Consensus ◽  
Comprehensive Literature Review ◽  
Increasing Risk ◽  
System Disorder ◽  
Current Guidelines

Abstract PTEN hamartoma tumour syndrome is a diverse multi-system disorder predisposing to the development of hamartomatous growths, increasing risk of breast, thyroid, renal cancer, and possibly increasing risk of endometrial cancer, colorectal cancer and melanoma. There is no international consensus on cancer surveillance in PHTS and all current guidelines are based on expert opinion. A comprehensive literature review was undertaken and guidelines were developed by clinicians with expertise from clinical genetics, gynaecology, endocrinology, dermatology, radiology, gastroenterology and general surgery, together with affected individuals and their representatives. Recommendations were put forward for surveillance for breast, thyroid and renal cancers. Limited recommendations were developed for other sites including endometrial, colon and skin. The proposed cancer surveillance recommendations for PHTS require a coordinated multidisciplinary approach and significant patient commitment. The evidence base for cancer surveillance in this guideline are limited, emphasising the need for prospective evaluation of the effectiveness of surveillance in the PHTS population.

scholarly journals Interactive Web-Based Resource for Annotation of Genetic Variants Causing Hereditary Angioedema (HADA): Database Development, Implementation, and Validation (Preprint)

2020 ◽  
Author(s):  
Alejandro Mendoza-Alvarez ◽  
Adrián Muñoz-Barrera ◽  
Luis Alberto Rubio-Rodríguez ◽  
Itahisa Marcelino-Rodriguez ◽  
Almudena Corrales ◽  
...  
Keyword(s):  
Hereditary Angioedema ◽  
Genetic Condition ◽  
First Line ◽  
International Consensus ◽  
Web Based ◽  
Genetics And Genomics ◽  
User Friendly ◽  
Current Guidelines ◽  
Generation Sequencing ◽  
Esterase Inhibitor

BACKGROUND Hereditary angioedema is a rare genetic condition caused by C1 esterase inhibitor deficiency, dysfunction, or kinin cascade dysregulation, leading to an increased bradykinin plasma concentration. Hereditary angioedema is a poorly recognized clinical entity and is very often misdiagnosed as a histaminergic angioedema. Despite its genetic nature, first-line genetic screening is not integrated in routine diagnosis. Consequently, a delay in the diagnosis, and inaccurate or incomplete diagnosis and treatment of hereditary angioedema are common. OBJECTIVE In agreement with recent recommendations from the International Consensus on the Use of Genetics in the Management of Hereditary Angioedema, to facilitate the clinical diagnosis and adapt it to the paradigm of precision medicine and next-generation sequencing–based genetic tests, we aimed to develop a genetic annotation tool, termed Hereditary Angioedema Database Annotation (HADA). METHODS HADA is built on top of a database of known variants affecting function, including precomputed pathogenic assessment of each variant and a ranked classification according to the current guidelines from the American College of Medical Genetics and Genomics. RESULTS HADA is provided as a freely accessible, user-friendly web-based interface with versatility for the entry of genetic information. The underlying database can also be incorporated into automated command-line stand-alone annotation tools. CONCLUSIONS HADA can achieve the rapid detection of variants affecting function for different hereditary angioedema types, and further integrates useful information to reduce the diagnosis odyssey and improve its delay.

scholarly journals Anticoagulant therapy in catheter ablation of atrial fibrillation and flutter

2021 ◽  
Vol 20 (5) ◽  
pp. 2974
Author(s):  
M. V. Serova ◽  
D. A. Andreev ◽  
M. I. Chashkina ◽  
Z. K. Salpagarova
Keyword(s):  
Atrial Fibrillation ◽  
Catheter Ablation ◽  
Anticoagulant Therapy ◽  
Randomized Trials ◽  
Web Of Science ◽  
Evidence Base ◽  
Thromboembolic Events ◽  
Practical Information ◽  
Atrial Fibrillation And Flutter ◽  
Current Guidelines

Catheter ablation (CA) of atrial fibrillation and flutter is associated with a high risk of both perioperative thromboembolic events and bleeding. Adequate anticoagulation is imperative to reduce the risk of complications. The aim of this review was to analyze modern approaches to anticoagulant therapy for CA of atrial fibrillation and flutter, as well as provide practical information based on a comparison of current guidelines and evidence base. The search for literature sources on anticoagulant therapy in CA was carried out in the PubMed, Scopus, Web of Science databases. The results of key randomized trials and meta-analyzes are presented, and a comparison of current Russian and international guidelines is given. Unresolved issues requiring further research are discussed.

The evidence base in support of breast cancer surveillance guidelines: Flying without a net?

2016 ◽  
Vol 34 (3_suppl) ◽  
pp. 25-25
Author(s):  
Shrujal S. Baxi ◽  
Rubaya Yeahia ◽  
Deborah Korenstein
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Survivors ◽  
Primary Care Providers ◽  
Evidence Base ◽  
Cancer Surveillance ◽  
Primary Study ◽  
Supporting Evidence ◽  
Care Providers ◽  
Cancer Knowledge ◽  
The Uk

25 Background: There are a growing number of breast cancer survivors, and they are often followed by primary care providers (PCP). With limited specialized cancer knowledge, PCPs may rely on guidelines (GL), but surveillance recommendations vary based on source. The data informing post-treatment surveillance is limited. We reviewed the evidence in support of varying breast cancer surveillance recommendations found in national GLs. Methods: We included breast cancer GLs containing surveillance recommendations from professional societies and government organizations in North America, the UK, and Europe (2010-5). We used online search engines and organization websites to identify GLs. Surveillance testing recommendations were recorded; relevant citations for each recommendation were identified and classified by evidence type. Results: We identified 6 breast cancer GLs from US, UK, and Europe; all recommended mammography. Other recommendations varied, with contradictory recommendations regarding MRI and US. Overall, 13 systematic reviews (SR) were cited; 9 related to mammography. One SR of MRI and one of mammography were cited by 2 GLs; remaining SRs were each cited by 1 GL. Other references included 34 primary studies, 9 narrative reviews and 11 older GLs. Among 23 surveillance testing recommendations from the 6 GLs, the highest level of supporting evidence was a SR in 44% and a primary study in 22%; the remainder cited no direct evidence. At times, the same citation supported contradictory recommendations in different guidelines. Conclusions: Evidence for surveillance recommendations is often low-level and cited references vary across GLs; the same evidence is used to support contradictory recommendations. Better evidence and its more consistent application would facilitate high quality breast cancer survivorship care.

scholarly journals Comparing and contrasting clinical consensus and guidelines for anal intraepithelial neoplasia in different geographical regions

2021 ◽  
Author(s):  
Danielle R. L. Brogden ◽  
Micol E. E. Lupi ◽  
Oliver J. Warren ◽  
Christos Kontovounisios ◽  
Sarah C. Mills
Keyword(s):  
Clinical Guidelines ◽  
Intraepithelial Neoplasia ◽  
Evidence Base ◽  
Anal Intraepithelial Neoplasia ◽  
International Consensus ◽  
Significant Discrepancy ◽  
Anal Squamous Cell Carcinoma ◽  
Geographical Variations ◽  
Geographical Regions

AbstractAnal Squamous Cell Carcinoma (ASCC) is an uncommon cancer with a recognised precursor Anal Intraepithelial Neoplasia (AIN). Although there are consistent evidence-based guidelines for the management of ASCC, historically this has not been the case for AIN and as a result there have been geographical variations in the recommendations for the treatment of AIN. More recently there have been updates in the literature to the recommendations for the management of AIN. To assess whether we are now closer to achieving an international consensus, we have completed a systematic scoping review of available guidelines for the screening, treatment and follow-up of AIN as a precursor to ASCC. MEDLINE and EMBASE were systematically searched for available clinical guidelines endorsed by a recognised clinical society that included recommendations on either the screening, treatment or follow-up of AIN. Nine clinical guidelines from three geographical areas were included. The most recent guidelines agreed that screening for AIN in high-risk patients and follow-up after treatment was necessary but there was less consensus on the modality of screening. Six Guidelines recommended the treatment of high-grade AIN and four guidelines describe a follow-up protocol of patients diagnosed with AIN. There appears to be increasing consensus on the treatment and follow-up of patients despite a poor evidence base. There is still significant discrepancy in guidance on the method to identify patients at risk of ASCC and AIN despite consensus between geographical regions on which patient subgroups are at the highest risk.

Breakthrough cancer pain (BTcP) management: a review of international and national guidelines

2018 ◽  
Vol 8 (3) ◽  
pp. 241-249 ◽  
Author(s):  
Andrew Neil Davies ◽  
Frank Elsner ◽  
Marilène Jeanne Filbet ◽  
Josep Porta-Sales ◽  
Carla Ripamonti ◽  
...  
Keyword(s):  
Cancer Pain ◽  
Rescue Medication ◽  
Low Grade ◽  
National Guidelines ◽  
International Consensus ◽  
Breakthrough Cancer Pain ◽  
Patients With Cancer ◽  
Personal Opinion ◽  
Diagnosis Criteria ◽  
Current Guidelines

ObjectiveBreakthrough cancer pain (BTcP) is common and has a significant impact on the quality of life of patients with cancer. This review compares current national/international BTcP guidelines in order to identify disparities and priorities for further research.MethodsRelevant guidelines were identified using searches of PubMed, the National Guideline Clearinghouse, the internet (commercial search engines), and correspondence with key opinion leaders and relevant pharmaceutical companies. Identified guidelines were compared, using the Association for Palliative Medicine of Great Britain and Ireland recommendations as the ‘reference’ guideline.ResultsTen specific BTcP guidelines were identified/reviewed, as well as major international generic cancer pain guidelines. In general, there was good agreement between the specific BTcP guidelines, although there remain some differences in terms of definition, diagnostic criteria and treatment of BTcP. Disparities between the different BTcP guidelines invariably reflect personal opinion rather than research evidence. Generic cancer pain guidelines continue to support the use of oral opioids as rescue medication, while specific BTcP guidelines invariably endorse the use of transmucosal opioids as rescue medication.ConclusionCurrent guidelines agree on many aspects of the management of BTcP. However, the evidence to support current guidelines remains low grade, and so more research is needed in this area of care. Moreover, there needs to be an international consensus on the definition and diagnosis criteria of BTcP.

Managing risk and self-harm: Keeping young people safe

2019 ◽  
Vol 25 (3) ◽  
pp. 610-624 ◽  
Author(s):  
Nicholas J Westers ◽  
Paul L Plener
Keyword(s):  
At Risk ◽  
Multidisciplinary Approach ◽  
Healthcare Professionals ◽  
Policy Recommendations ◽  
Self Injury ◽  
Youth At Risk ◽  
Self Harm ◽  
Future Policy ◽  
Managing Risk ◽  
Current Guidelines

Suicide is the second leading cause of death among adolescents worldwide, yet adequate mental health services for children and adolescents are lacking across the globe. Likewise, youth who engage in non-suicidal self-injury (NSSI) are at heightened risk for suicide, but few pediatric settings have established protocols for screening and responding to youth who engage in NSSI and/or endorse thoughts of suicide. In this article, we highlight similarities and differences of managing suicide and NSSI across cultures, including persisting stigma associated with youth at risk for self-harm. We summarize current guidelines for screening youth at risk for suicide and NSSI across services, consider the use of online and telehealth services, and offer recommendations for a multidisciplinary approach to treating youth who engage in self-harming behaviors as well as how healthcare professionals can communicate with each other using common, non-stigmatizing language. We conclude with a discussion of future policy recommendations and areas for research.

scholarly journals Cancer Surveillance in Healthy Carriers of Germline Pathogenic Variants in BRCA1/2: A Review of Secondary Prevention Guidelines

2020 ◽  
Vol 2020 ◽  
pp. 1-13
Author(s):  
Boudewijn Dullens ◽  
Robin de Putter ◽  
Matteo Lambertini ◽  
Angela Toss ◽  
Sileny Han ◽  
...  
Keyword(s):  
Cancer Susceptibility ◽  
Predictive Testing ◽  
Professional Associations ◽  
Breast Cancer Susceptibility ◽  
Cancer Surveillance ◽  
Cancer Type ◽  
International Consensus ◽  
Screening Guidelines ◽  
Cancer Susceptibility Genes ◽  
Increased Risk

Germline pathogenic alterations in the breast cancer susceptibility genes 1 (BRCA1) and 2 (BRCA2) are the most prevalent causes of hereditary breast and ovarian cancer. The increasing trend in proportion of cancer patients undergoing genetic testing, followed by predictive testing in families of new index patients, results in a significant increase of healthy germline BRCA1/2 mutation carriers who are at increased risk for breast, ovarian, and other BRCA-related cancers. This review aims to give an overview of available screening guidelines for female and male carriers of pathogenic or likely pathogenic germline BRCA1/2 variants per cancer type, incorporating malignancies that are more or less recently well correlated with BRCA1/2. We selected guidelines from national/international organizations and/or professional associations that were published or updated between January 1, 2015, and February 1, 2020. In total, 12 guidelines were included. This review reveals several significant discordances between the different guidelines. Optimal surveillance strategies depend on accurate age-specific cancer risk estimates, which are not reliably available for all BRCA-related cancers. Up-to-date national or international consensus guidelines are of utmost importance to harmonize counseling and proposed surveillance strategies for BRCA1/2 carriers.

scholarly journals Genetic Counseling and Germline Testing in the Era of Tumor Sequencing: A Cohort Study

2020 ◽  
Vol 4 (3) ◽  
Author(s):  
Stefan Klek ◽  
Brandie Heald ◽  
Alex Milinovich ◽  
Ying Ni ◽  
Jame Abraham ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Statistical Tests ◽  
Tumor Board ◽  
Clinical Genetics ◽  
Treatment And Prevention ◽  
Pathogenic Variants ◽  
Testing Uptake ◽  
Next Generation Sequencing Ngs ◽  
Current Guidelines ◽  
Germline Testing

Abstract Background The clinical impact of addressing potential germline alterations from tumor-only next-generation sequencing (NGS) is not well characterized. Current guidelines for cancer genetic testing may miss clinically actionable germline changes, which may have important implications for cancer screening, treatment, and prevention. We examined whether increasing involvement of the clinical genetics service during somatic tumor-only NGS review at Molecular Tumor Board (MTB) increases the detection of germline findings. Methods In a retrospective evaluation of patients who underwent tumor-only NGS and were reviewed at MTB, we quantified genetic counseling (GC) referrals as well as germline testing uptake and results across three cohorts: before (C1) and after (C2) the addition of tumor-only NGS review and after (C3) instituting a formal process to coordinate NGS-based genetics referrals to preexisting oncology appointments. All statistical tests were two-sided. Results From 2013 to 2017, 907 tumor-only NGS reports were reviewed at MTB (nC1 = 281, nC2 = 493, nC3 = 133); gastrointestinal (22.5%), lung (19.7%), genitourinary (14.8%), and breast (14.1%) were the most common index cancers. GC visits due to MTB increased with each successive cohort (C1 = 1.1%, C2 = 6.9%, C3 = 13.5%; P for trend [Ptrend] < .001), as did germline testing (C1 = 0.7%, C2 = 3.2%, C3 = 11.3%; Ptrend < .001). Diagnosis of germline pathogenic variants increased with each successive cohort (C1 = 1.4%, C2 = 2.0%, C3 = 7.5%; Ptrend = .003) and with germline pathogenic variants found by MTB review (C1 = 0.4%, C2 = 0.4%, C3 = 2.3%; Ptrend = .12). Conclusions Both review of tumor-only NGS by genetics and the institution of a process coordinating GC with oncology appointments increased the discovery of germline pathogenic variants from tumor-only NGS testing. Furthermore, this process identified germline pathogenic variant carriers who would not have otherwise met standard criteria for germline testing.

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