Germline CDH1 variants and lifetime cancer risk

JAMA

2024-06-14

(Press-News.org) About The Study: Among families from North America with germline CDH1 P/LP variants, the cumulative risk of gastric cancer was 7% to 10%, which was lower than previously described, and the cumulative risk of breast cancer among female carriers was 37%, which was similar to prior estimates. These findings inform current management of individuals with germline CDH1 variants.

Quote from corresponding author Jeremy L. Davis, M.D.:

“We showed that the lifetime risk of cancer, specifically stomach cancer, in people born with CDH1 gene mutations is lower than we previously thought. This is very important to patients because for over 20 years we have recommended prophylactic stomach removal to eliminate the risk of hereditary gastric cancer. Complete stomach removal is a major operation, and life without a stomach has significant, long-lasting consequences.

“We believe these results will help many people save their stomachs. It is important to note that this research was made possible by a commitment to studying a rare disease and by sharing data across institutions.”

Contact information for Jeremy L. Davis, M.D.: email jeremy.davis@nih.gov.

To access the embargoed study: Visit our For The Media website at this link https://media.jamanetwork.com/

(doi:10.1001/jama.2024.10852)

Editor’s Note: Please see the article for additional information, including other authors, author contributions and affiliations, conflict of interest and financial disclosures, and funding and support.

# # #

Media advisory: This study is being presented at the International Gastric Cancer Linkage Consortium.

Embed this link to provide your readers free access to the full-text article This link will be live at the embargo time https://jamanetwork.com/journals/jama/fullarticle/10.1001/jama.2024.10852?guestAccessKey=9c9de2ae-3560-45c3-a7af-85de311bebc2&utm_source=For_The_Media&utm_medium=referral&utm_campaign=ftm_links&utm_content=tfl&utm_term=061424

END

ELSE PRESS RELEASES FROM THIS DATE:

Dapagliflozin for critically ill patients with acute organ dysfunction

2024-06-14

About The Study: The addition of dapagliflozin, a sodium-glucose cotransporter 2 inhibitor, to standard care for critically ill patients and acute organ dysfunction did not improve clinical outcomes; however, confidence intervals were wide and could not exclude relevant benefits or harms for dapagliflozin. Corresponding Author: To contact the corresponding author, Fernando G. Zampieri, M.D., Ph.D., email fernando.zampieri@einstein.br. To access the embargoed study: Visit our For The Media website at this link https://media.jamanetwork.com/ (doi:10.1001/jama.2024.10510) Editor’s ...

RECLARIT: Self-management in practice

2024-06-14

Disease activity, structural damage, and progression all impact the lives of people with rheumatoid arthritis (RA), and can cause psychosocial distress. While inhibition of inflammation and structural changes have improved significantly following advances in pharmacological treatment in recent dates, the observed impact of these disease-modifying antirheumatic drugs (DMARD) on key psychosocial outcomes is limited.3 An important feature within the EULAR recommendations on self-management in people with inflammatory arthritis is that digital healthcare is tagged as being essential in supporting and optimising self-management2. . Thus healthcare professionals need to be aware ...

Survey now open: EULAR invites patients across Europe to participate in groundbreaking study on rheumatic and musculoskeletal diseases

2024-06-14

People living with RMDs can now fill out the survey online, sharing their experiences to help build a comprehensive understanding of their disease's impact. The data collected will be invaluable for researchers, healthcare professionals, and patients themselves, providing insights into the burden of RMDs and identifying areas for improvement in care. EULAR is committed to inclusivity and accessibility; the survey will soon be available in multiple European languages in addition to English. This ensures that a diverse range of patients can contribute their perspectives, enhancing the richness and applicability of the data. Participants will answer a baseline survey ...

EULAR launches the EULAR Network of Trial Centres (ENTRI), a unique initiative transforming the way clinical trials are delivered

2024-06-14

ENTRI aims to: Create a network of clinical trial centres, accessible to all investigators and sponsors from both public and private sectors. Build capacity and training in clinical trials and experimental medicine studies. Provide RMD-related clinical trials toolkits underpinned by best practice. By facilitating the delivery of incisive research trial studies, ENTRI helps generate the evidence required to implement changes in clinical practice that are meaningful and beneficial to patients. ENTRI members will be invited to participate in cutting-edge projects sponsored by both public and private sectors. Facilitating faster translation of results into ...

Could interferon signature aid in the diagnosis and stratification of pediatric Sjögren’s?

2024-06-14

Sjögren’s disease is rare in children, and presenting symptoms differ from those seen in adults. For example, paediatric patients present less often with sicca complaints, and more frequently with parotid gland swelling and fever.1 This new work aimed to identify potentially dysregulated molecular pathways in children with Sjögren’s disease by comparing the transcriptome of peripheral blood cells between 18 patients and 23 controls – using differential gene expression and pathway analysis. In addition to whole transcriptome analysis of blood samples, expression of interferon-stimulated genes (ISG) was measured in paired ...

Putting rheumatic and musculoskeletal diseases (RMDs) at the forefront of the next European Union healthcare agenda

2024-06-14

Why are RMDs an issue for Europe? RMDs, often dubbed 'the invisible diseases', affect approximately 120 million Europeans, constituting one in five individuals across the continent. Despite their prevalence, there remains a significant lack of awareness among policymakers and the general public, leading to their frequent neglect in political and financial agendas. However, the impact of RMDs is far-reaching, contributing to physical disability, chronic health conditions, and substantial economic burdens, amounting to an estimated 240 billion Euros annually. Furthermore, RMDs not only pose a direct threat to individual health but also contribute to the ...

Tackling issues in childhood arthritis

2024-06-14

Community awareness that children and young people get arthritis is low.1 This is associated with delays in diagnosis, worse clinical outcomes, and adverse societal factors such as stigma and isolation. Raising awareness of childhood arthritis is crucial in combatting these issues to improve the lives of those living with JIA. An abstract plenary session at the 2024 EULAR congress shared work from Juvenile Arthritis Research – a patient organisation in the UK that is involved in a variety of projects to raise awareness and support JIA patients and their families. These include a variety ...

Predictors for organ damage

2024-06-14

cSLE is a rare multisystem disorder with significant associated morbidity, but evidence-based guidelines are sparse, and as such management is often based on clinical expertise.2 The EULAR/ACR-2019 criteria have shown sensitivity in cSLE patients, which could allow earlier recognition of patients with single or major organ involvement,3 but identifying specific predictors in this vulnerable group is vital for preventing long-lasting damage. The new work, presented at the 2024 EULAR congress, aimed ...

Osteoarthritis: associations and comorbidities

2024-06-14

In the 2023 update of their recommendations for osteoarthritis management, EULAR – The European Alliance of Associations for Rheumatology – recognise osteoarthritis as a severe disease, and one with important implications for both the individual and society.3 However, most people with osteoarthritis do not receive optimal management,4,5 and this represents an important unmet need – especially when considering additional systemic comorbidities. To explore this further, ComOA6 has combined case-control and cohort studies for over 3 million people in primary care in the UK, Netherlands, Sweden, and Spain. The analyses – shared at ...

High-precision measurements challenge our understanding of Cepheids

2024-06-14

“Classical Cepheids” are a type of pulsating star that rhythmically brightens and dims over time. These pulsations help astronomers measure vast distances across space, which makes Cepheids crucial “standard candles” that help us understand the size and scale of our universe. Despite their importance, studying Cepheids is challenging. Their pulsations and potential interactions with companion stars create complex patterns that are difficult to measure accurately. Different instruments and methods used over the years have led to inconsistent data, ...

Modular assembly of chiral nitrogen-bridged rings achieved by palladium-catalyzed diastereoselective and enantioselective cascade cyclization reactions

Germline CDH1 variants and lifetime cancer risk

ELSE PRESS RELEASES FROM THIS DATE:

LAST 30 PRESS RELEASES: