International Agency for Research on Cancer
Ontology highlight
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PROVIDER: EGAO00000001013 | EGA |
REPOSITORIES: EGA
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Project description:Organisation EGAO00000000169
| EGAO00000000169 | EGA
Project description:ImportanceLi-Fraumeni syndrome is a cancer predisposition syndrome that is associated with a high, lifelong risk of a broad spectrum of cancers that is caused by pathogenic TP53 germline variants. A definition that reflects the broad phenotypic spectrum that has evolved since the gene discovery is lacking, and mechanisms leading to phenotypic differences remain largely unknown.ObjectiveTo define the phenotypic spectrum of Li-Fraumeni syndrome and conduct phenotype-genotype associations across the phenotypic spectrum.Design, setting, and participantsWe analyzed and classified the germline variant data set of the International Agency for Research on Cancer TP53 database that contains data on a cohort of 3034 persons from 1282 families reported in the scientific literature since 1990. We defined the term Li-Fraumeni spectrum to encompass (1) phenotypic Li-Fraumeni syndrome, defined by the absence of a pathogenic/likely pathogenic TP53 variant in persons/families meeting clinical Li-Fraumeni syndrome criteria; (2) Li-Fraumeni syndrome, defined by the presence of a pathogenic/likely pathogenic TP53 variant in persons/families meeting Li-Fraumeni syndrome testing criteria; (3) attenuated Li-Fraumeni syndrome, defined by the presence of a pathogenic/likely pathogenic TP53 variant in a person/family with cancer who does not meet Li-Fraumeni syndrome testing criteria; and (4) incidental Li-Fraumeni syndrome, defined by the presence of a pathogenic/likely pathogenic TP53 variant in a person/family without a history of cancer. Data analysis occurred from November 2020 to March 2021.Main outcomes and measuresDifferences in variant distribution and cancer characteristics in patients with a germline TP53 variant who met vs did not meet Li-Fraumeni syndrome testing criteria.ResultsTumor spectra showed significant differences, with more early adrenal (n = 166, 6.5% vs n = 0), brain (n = 360, 14.17% vs n = 57, 7.46%), connective tissue (n = 303, 11.92% vs n = 56, 7.33%), and bone tumors (n = 279, 10.98% vs n = 3, 0.39%) in patients who met Li-Fraumeni syndrome genetic testing criteria (n = 2139). Carriers who did not meet Li-Fraumeni syndrome genetic testing criteria (n = 678) had more breast (n = 292, 38.22% vs n = 700, 27.55%) and other cancers, 45% of them occurring after age 45 years. Hotspot variants were present in both groups. Several variants were exclusively found in patients with Li-Fraumeni syndrome, while others where exclusively found in patients with attenuated Li-Fraumeni syndrome. In patients who met Li-Fraumeni syndrome genetic testing criteria, most TP53 variants were classified as pathogenic/likely pathogenic (1757 of 2139, 82.2%), whereas 40.4% (404 of 678) of TP53 variants identified in patients who did not meet the Li-Fraumeni syndrome genetic testing criteria were classified as variants of uncertain significance, conflicting results, likely benign, benign, or unknown.Conclusions and relevanceThe findings of this cohort study suggest that this new classification, Li-Fraumeni spectrum, is a step toward understanding the factors that lead to phenotypic differences and may serve as a model for other cancer predisposition syndromes.
| S-EPMC8554692 | biostudies-literature
Project description:BackgroundCanada has one of the highest incidences of colorectal cancer (CRC) worldwide. CRC screening improves CRC outcomes and is cost-effective. This study compares Canadian CRC screening programs using essential elements of an organized screening program outlined by the International Agency for Research on Cancer (IARC).MethodsWe collaborated with the Cancer Screening in 5 continents (CanScreen5) program, an initiative of IARC. Standardized data collection forms were sent to representatives of provincial and territorial CRC screening programs. Twenty-five questions were selected to reflect IARC's essential elements of an organized screening program. We performed a qualitative analysis of Canada's CRC screening programs and compared programs within Canada and internationally.ResultsCRC screening programs exist in 10 provinces and 2 territories. None of the programs in Canada met all the essential criteria of an organized screening program outlined by IARC. Three programs do not send invitations to participate in screening. Among those that do, 4 programs do not include a stool test kit in the invitations. While all provinces met the essential elements for leadership, governance, finance, and access to essential services, there was more heterogeneity in the domains of service delivery as well as information systems and quality assurance.ConclusionsThere is considerable heterogeneity in the design of CRC screening programs in Canada and worldwide. Programs should strive to meet all the essential IARC criteria for organized screening if local resources allow, such as issuing invitations and implementing systems to track and compare outcomes to maximize screening program quality, effectiveness, and impact.
| S-EPMC11317627 | biostudies-literature
Project description:Organisation EGAO00000001061
| EGAO00000001061 | EGA
Project description:Organisation EGAO00000000145
| EGAO00000000145 | EGA
Project description:The agency of international students has long been neglected and undertheorised, though recent literature indicates that this has started to change. This paper systematically reviews 51 studies that address student agency in international higher education. Focusing on research published in the last two decades (2000-2020), the review draws on studies that foreground student voices, or international students' perspectives, rather than the perspectives of teachers, administrators or policymakers. A detailed discussion of how international student agency is positioned in the literature found that agency appears as either: a research object, as part of a theoretical or conceptual framework, or an emergent finding. Furthermore, our analysis suggests that the term "agency" is often used as a buzzword rather than as a fleshed-out concept. Thus, drawing on this initial analysis, the review synthesises varying but overlapping conceptualisations of international student agency in the literature into an integrative framework. Implications for future research are drawn, based on our findings about the understudied populations and methodological limitations in the literature.Supplementary informationThe online version contains supplementary material available at 10.1007/s10734-022-00952-3.
| S-EPMC9676751 | biostudies-literature
Project description:Organisation EGAO00000000060
| EGAO00000000060 | EGA
Project description:Gaps in the translation of research findings to clinical management have been recognized for decades. They exist for the diagnosis as well as the management of cancer. The international standards for cancer diagnosis are contained within the World Health Organization (WHO) Classification of Tumours, published by the International Agency for Research on Cancer (IARC) and known worldwide as the WHO Blue Books. In addition to their relevance to individual patients, these volumes provide a valuable contribution to cancer research and surveillance, fulfilling an important role in scientific evidence synthesis and international standard setting. However, the multidimensional nature of cancer classification, the way in which the WHO Classification of Tumours is constructed, and the scientific information overload in the field pose important challenges for the translation of research findings to tumour classification and hence cancer diagnosis. To help address these challenges, we have established the International Collaboration for Cancer Classification and Research (IC3 R) to provide a forum for the coordination of efforts in evidence generation, standard setting and best practice recommendations in the field of tumour classification. The first IC3 R meeting, held in Lyon, France, in February 2019, gathered representatives of major institutions involved in tumour classification and related fields to identify and discuss translational challenges in data comparability, standard setting, quality management, evidence evaluation and copyright, as well as to develop a collaborative plan for addressing these challenges.
| S-EPMC7756795 | biostudies-literature
Project description:Organisation EGAO00000000142
| EGAO00000000142 | EGA