[HTML][HTML] Clinical-grade detection of microsatellite instability in colorectal tumors by deep learning

A Echle, HI Grabsch, P Quirke, PA van den Brandt… - Gastroenterology, 2020 - Elsevier
Background & Aims Microsatellite instability (MSI) and mismatch-repair deficiency (dMMR)
in colorectal tumors are used to select treatment for patients. Deep learning can detect MSI …

A review of the cost-effectiveness of genetic testing for germline variants in familial cancer

S Teppala, B Hodgkinson, S Hayes… - Journal of Medical …, 2023 - Taylor & Francis
Background Targeted germline testing is recommended for those with or at risk of breast,
ovarian, or colorectal cancer. The affordability of genetic sequencing has improved over the …

Economic evaluations of predictive genetic testing: A sco** review

Q **, S **, S Morris - PLoS One, 2023 - journals.plos.org
Predictive genetic testing can provide information about whether or not someone will
develop or is likely to develop a specific condition at a later stage in life. Economic …

[HTML][HTML] A registry-based study on universal screening for defective mismatch repair in colorectal cancer in Denmark highlights disparities in screening uptake and …

JA Durhuus, M Galanakis, T Maltesen… - Translational …, 2024 - Elsevier
Universal screening for defective mismatch repair (dMMR) in colorectal cancer utilizes
immunohistochemical staining for MLH1, MSH2, MSH6 and PSM2. Additionally, BRAF …

Improving Lynch syndrome detection: a mixed-methods process evaluation of a hybrid type III effectiveness-implementation trial

A Morrow, R Baffsky, K Tucker, B Parkinson… - BMC Health Services …, 2024 - Springer
Translating evidence-based practices into real-world healthcare settings is challenging,
particularly in the rapidly evolving field of genomics. A pragmatic two-arm cluster …

Direct image to subtype prediction for brain tumors using deep learning

KJ Hewitt, CML Löffler, HS Muti… - Neuro-oncology …, 2023 - academic.oup.com
Abstract Background Deep Learning (DL) can predict molecular alterations of solid tumors
directly from routine histopathology slides. Since the 2021 update of the World Health …

Evaluation of yield and experiences of age‐related molecular investigation for heritable and nonheritable causes of mismatch repair deficient colorectal cancer to …

JR Vos, IE Fakkert, L Spruijt… - … journal of cancer, 2020 - Wiley Online Library
Universal mismatch repair deficiency (dMMR) testing of colorectal cancer (CRC) is promoted
as routine diagnostics to prescreen for Lynch syndrome. We evaluated the yield and …

Mismatch repair deficiency: how reliable is the two‐antibody approach? A national real‐life study

E Vink‐Börger, M den Bakker, R Voorham… - …, 2024 - Wiley Online Library
Aims Traditionally, mismatch repair (MMR) status is determined by a panel of four antibodies
(MLH1, PMS2, MSH2, MSH6). If all proteins are retained, cases are MMR proficient (pMMR) …

[HTML][HTML] The predicted effect and cost-effectiveness of tailoring colonoscopic surveillance according to mismatch repair gene in patients with Lynch syndrome

YJ Kang, M Caruana, K McLoughlin, J Killen… - Genetics in …, 2022 - Elsevier
Purpose Lynch syndrome-related colorectal cancer (CRC) risk substantially varies by
mismatch repair (MMR) gene. We evaluated the health impact and cost-effectiveness of …

[HTML][HTML] Molecular analysis of colorectal cancers suggests a high frequency of lynch syndrome in Indonesia

S Susanti, S Wibowo, G Akbariani, N Yoshuantari… - Cancers, 2021 - mdpi.com
Simple Summary The incidence of young people< 50 years old who are diagnosed with
colorectal cancer (CRC), termed as early onset colorectal cancer (EOCRC), accounted for …