10 research outputs found
Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes
Approximately 27-36million patients in Europe have one of the similar to 5.000-8.000 known rare diseases. These patients often do not receive the care they need or they have a substantial delay from diagnosis to treatment. In March 2017, twenty-four European Reference Networks (ERNs) were launched with the aim to improve the care for these patients through cross border healthcare, in a way that the medical knowledge and expertise travels across the borders, rather than the patients. It is expected that through the ERNs, European patients with a rare disease get access to expert care more often and more quickly, and that research and guideline development will be accelerated resulting in improved diagnostics and therapies. The ERN on Genetic Tumour Risk Syndromes (ERN GENTURIS) aims to improve the identification, genetic diagnostics, prevention of cancer, and treatment of European patients with a genetic predisposition for cancer. The ERN GENTURIS focuses on syndromes such as hereditary breast cancer, hereditary colorectal cancer and polyposis, neurofibromatosis and more rare syndromes e.g. PTEN Hamartoma Tumour Syndrome, Li Fraumeni Syndrome and hereditary diffuse gastric cancer
Boosting care and knowledge about hereditary cancer: European Reference Network on Genetic Tumour Risk Syndromes
Approximately 27–36 million patients in Europe have one of the ~ 5.000–8.000 known rare diseases. These patients often
do not receive the care they need or they have a substantial delay from diagnosis to treatment. In March 2017, twenty-four
European Reference Networks (ERNs) were launched with the aim to improve the care for these patients through cross
border healthcare, in a way that the medical knowledge and expertise travels across the borders, rather than the patients.
It is expected that through the ERNs, European patients with a rare disease get access to expert care more often and more
quickly, and that research and guideline development will be accelerated resulting in improved diagnostics and therapies.
The ERN on Genetic Tumour Risk Syndromes (ERN GENTURIS) aims to improve the identification, genetic diagnostics,
prevention of cancer, and treatment of European patients with a genetic predisposition for cancer. The ERN GENTURIS
focuses on syndromes such as hereditary breast cancer, hereditary colorectal cancer and polyposis, neurofibromatosis and
more rare syndromes e.g. PTEN Hamartoma Tumour Syndrome, Li Fraumeni Syndrome and hereditary diffuse gastric cancer
Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome
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
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Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome
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
Rolnictwo wspierane przez społeczność jako forma zrównoważonej konsumpcji
The article describes the activities and specificity of so-called CSA groups
(Community Supported Agriculture) as one of the forms of the observable trend related
to the formation of different types of informal, mutual social initiatives. Certainly such
activities can be categorized as sustainable consumption. The article presents the results of
research conducted on CSA groups operating in Poland. This study aims is to contribute
to the discussion by combining data from basic research with a comparative analysis. The
research shows that the various CSA-projects differ a lot from each other and that there is
a variety of approaches within the CSA-movement.W artykule opisano działania i specyfikę grup RWS (rolnictwo wspierane
przez społeczność) jako jednej z form obserwowanego trendu związanego z tworzeniem
różnego rodzaju nieformalnych, wzajemnych inicjatyw społecznych. Takie działania można
zaliczyć do zrównoważonej konsumpcji. W artykule przedstawiono wyniki badań przeprowadzonych
na grupach RWS działających w Polsce. Wyniki badania powinny przyczynić
się do dyskusji. Dane z badań podstawowych połączono z analizą porównawczą. Badania
pokazują, że projekty RWS różnią się znacznie i że istnieje wiele podejść w ramach tego
ruchu
Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes
Fifty years after the recognition of the Li–Fraumeni syndrome (LFS), our perception of cancers related to germline alterations of TP53 has drastically changed: (i) germline TP53 alterations are often identified among children with cancers, in particular soft-tissue sarcomas, adrenocortical carcinomas, central nervous system tumours, or among adult females with early breast cancers, without familial history. This justifies the expansion of the LFS concept to a wider cancer predisposition syndrome designated heritable TP53-related cancer (hTP53rc) syndrome; (ii) the interpretation of germline TP53 variants remains challenging and should integrate epidemiological, phenotypical, bioinformatics prediction, and functional data; (iii) the penetrance of germline disease-causing TP53 variants is variable, depending both on the type of variant (dominant-negative variants being associated with a higher cancer risk) and on modifying factors; (iv) whole-body MRI (WBMRI) allows early detection of tumours in variant carriers and (v) in cancer patients with germline disease-causing TP53 variants, radiotherapy, and conventional genotoxic chemotherapy contribute to the development of subsequent primary tumours. It is critical to perform TP53 testing before the initiation of treatment in order to avoid in carriers, if possible, radiotherapy and genotoxic chemotherapies. In children, the recommendations are to perform clinical examination and abdominal ultrasound every 6 months, annual WBMRI and brain MRI from the first year of life, if the TP53 variant is known to be associated with childhood cancers. In adults, the surveillance should include every year clinical examination, WBMRI, breast MRI in females from 20 until 65 years and brain MRI until 50 years. © 2020, The Author(s)
Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromes
Fifty years after the recognition of the Li–Fraumeni syndrome (LFS), our perception of cancers related to germline alterations of TP53 has drastically changed: (i) germline TP53 alterations are often identified among children with cancers, in particular soft-tissue sarcomas, adrenocortical carcinomas, central nervous system tumours, or among adult females with early breast cancers, without familial history. This justifies the expansion of the LFS concept to a wider cancer predisposition syndrome designated heritable TP53-related cancer (hTP53rc) syndrome; (ii) the interpretation of germline TP53 variants remains challenging and should integrate epidemiological, phenotypical, bioinformatics prediction, and functional data; (iii) the penetrance of germline disease-causing TP53 variants is variable, depending both on the type of variant (dominant-negative variants being associated with a higher can